pre-implantation genetic testing – Fertility Center & Applied Genetics Of Florida https://geneticsandfertility.com Designated as Top Fertility Doctor by USNews & World Report Thu, 17 Apr 2025 20:07:59 +0000 en-US hourly 1 https://wordpress.org/?v=5.2.21 Diet and Nutrition for a Healthy ICSI Pregnancy https://geneticsandfertility.com/diet-and-nutrition-for-a-healthy-icsi-pregnancy/ https://geneticsandfertility.com/diet-and-nutrition-for-a-healthy-icsi-pregnancy/#respond Fri, 18 Apr 2025 16:57:14 +0000 https://geneticsandfertility.com/?p=3860

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  1. Special Prenatal Care for ICSI Pregnancies
  2. Risks of Miscarriage After ICSI: What You Should Know (2025)
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Introduction: Nutrition’s Critical Role in ICSI Pregnancy Success

Achieving pregnancy through Intracytoplasmic Sperm Injection (ICSI) represents both a scientific breakthrough and the beginning of an important nutritional journey. While ICSI helps overcome fertilization challenges by directly injecting sperm into an egg, the nutritional choices you make before, during, and after this procedure significantly impact embryo development, implantation success, and your baby’s long-term health.

Research increasingly shows that nutrition plays an even more critical role in assisted reproductive technology (ART) pregnancies. The delicate balance of nutrients supports not only your changing body but also promotes optimal embryonic and fetal development during this crucial time.

Pre-ICSI Nutritional Preparation: Setting the Foundation

Nutritional Optimization Before Treatment (3-6 Months Prior)

Starting nutritional preparation 3-6 months before your ICSI cycle gives both partners time to optimize their reproductive health:

For Women:

  • Achieve a healthy BMI: Studies show that a BMI between 20-25 correlates with higher ICSI success rates
  • Reduce inflammatory foods: Minimize processed foods, refined sugars, and trans fats
  • Increase antioxidant intake: Colorful fruits and vegetables protect egg quality
  • Stabilize blood sugar: Regular, balanced meals support hormonal balance

For Men:

  • Antioxidant-rich diet: Protects sperm DNA integrity, which is especially important for ICSI where individual sperm selection occurs
  • Zinc and selenium: Support sperm production and quality
  • Omega-3 fatty acids: Improve sperm membrane function
  • Moderate alcohol and eliminate tobacco: Both significantly impact sperm parameters

Essential Nutrients for ICSI Pregnancies

Protein: Building Blocks for Your Baby

Daily needs: 75-100g (approximately 25g more than pre-pregnancy)

Best sources:

  • Lean poultry and grass-fed meats
  • Fish low in mercury (salmon, trout, sardines)
  • Plant-based options (lentils, chickpeas, quinoa)
  • Dairy or dairy alternatives
  • Eggs (particularly beneficial as they contain choline)

Protein requirements increase during pregnancy to support your baby’s rapid cell growth and your expanding blood volume. Quality matters as much as quantity—focus on complete proteins containing all essential amino acids.

Folate/Folic Acid: Critical for Neural Development

Daily needs: 600-800mcg (higher than the standard 400mcg recommendation)

Best sources:

  • Leafy greens (spinach, kale, arugula)
  • Broccoli and asparagus
  • Legumes
  • Fortified foods
  • High-quality prenatal supplements with methylfolate

ICSI pregnancies particularly benefit from optimal folate levels, as this B vitamin is crucial for proper neural tube formation during the first weeks of pregnancy—often before you even know you’re pregnant.

Iron: Preventing Anemia and Supporting Oxygen Transport

Daily needs: 27mg (nearly double pre-pregnancy requirements)

Best sources:

  • Red meat and organ meats (highest bioavailability)
  • Dark poultry meat
  • Plant sources (spinach, beans, fortified cereals)
  • Vitamin C-rich foods consumed with iron sources to enhance absorption

Iron requirements significantly increase during pregnancy to support your expanded blood volume and your baby’s oxygen needs. ICSI pregnancies may need careful monitoring of iron status, as studies show assisted reproduction pregnancies have slightly higher rates of anemia.

Calcium: Building Strong Bones and Teeth

Daily needs: 1000-1300mg

Best sources:

  • Dairy products (milk, yogurt, cheese)
  • Calcium-fortified plant milks
  • Leafy greens (especially kale and bok choy)
  • Almonds and almond butter
  • Small fish with edible bones (sardines, canned salmon)

Your body prioritizes your baby’s calcium needs, so adequate intake prevents depletion of your bone density while supporting your baby’s skeletal development.

Omega-3 Fatty Acids: Supporting Brain Development

Daily needs: 200-300mg DHA

Best sources:

  • Low-mercury fatty fish (salmon, sardines, trout)
  • Algae-based supplements (vegetarian option)
  • Walnuts and flaxseeds (contain ALA, which converts to DHA in small amounts)
  • DHA-enriched eggs

DHA, a specific omega-3 fatty acid, is particularly crucial during pregnancy for your baby’s brain and eye development. Some research suggests that optimal DHA levels may help reduce pregnancy complications that are slightly more common in ICSI pregnancies.

Vitamin D: The Sunshine Vitamin’s Crucial Role

Daily needs: 600-4000 IU (based on blood levels)

Best sources:

  • Sunlight (15-20 minutes of direct sun exposure)
  • Fatty fish
  • Egg yolks
  • Fortified foods
  • Supplements (often needed to achieve optimal levels)

Vitamin D deficiency is extremely common in women undergoing fertility treatments and during pregnancy. Adequate levels support immune function, bone health, and may reduce pregnancy complications like preeclampsia.

Foods to Avoid During Pregnancy

High-Mercury Seafood

Completely avoid:

  • Shark
  • Swordfish
  • King mackerel
  • Tilefish
  • Marlin
  • Bigeye tuna

Mercury can cross the placenta and affect your baby’s developing nervous system. Since ICSI pregnancies are precious achievements after fertility challenges, extra caution with known neurotoxins is warranted.

Foodborne Illness Risks

Exercise caution with:

  • Raw or undercooked meats, poultry, and seafood
  • Unpasteurized dairy products
  • Raw sprouts
  • Unwashed produce
  • Deli meats and hot dogs (unless heated until steaming)

Your immune system is naturally suppressed during pregnancy to prevent rejection of your baby, making you more vulnerable to foodborne illnesses that could potentially harm your baby or trigger pregnancy complications.

Caffeine Considerations

Recommendation: Limit to 200mg daily (approximately one 12oz cup of coffee)

While moderate caffeine consumption appears safe during pregnancy, some studies suggest that women who conceived through assisted reproduction might benefit from even lower caffeine intake, particularly during the first trimester.

Alcohol

Recommendation: Avoid completely

No amount of alcohol has been proven safe during pregnancy, and it may be particularly important to avoid in ICSI pregnancies where embryo implantation and early development are critical milestones.

Managing Common Pregnancy Symptoms Through Diet

First Trimester Nausea and Food Aversions

Supportive strategies:

  • Small, frequent meals to stabilize blood sugar
  • Protein-rich snacks before bed to prevent morning nausea
  • Ginger tea or supplements (shown to reduce nausea intensity)
  • Bland, easy-to-digest foods like crackers, rice, and bananas
  • Cold foods (often better tolerated than hot, aromatic foods)
  • Separating food and fluid intake by 30 minutes

Morning sickness affects up to 80% of pregnant women, and some studies suggest it may be more common in ART pregnancies. While uncomfortable, mild to moderate nausea is associated with better pregnancy outcomes, likely due to higher hormone levels.

Heartburn and Acid Reflux

Dietary approaches:

  • Smaller, more frequent meals
  • Avoiding spicy, acidic, and fatty foods
  • Staying upright after eating
  • Consuming liquid and solid foods separately
  • Including yogurt and other probiotic-rich foods
  • Avoiding eating 2-3 hours before bedtime

As your pregnancy progresses and your growing uterus puts pressure on your stomach, these strategies can provide significant relief without medication.

Constipation

Preventative measures:

  • Gradually increasing fiber intake to 25-30g daily
  • Prioritizing whole food fiber sources over supplements
  • Drinking 8-10 glasses of water daily
  • Regular physical activity as approved by your healthcare provider
  • Probiotic-rich foods to support gut flora

Hormonal changes, prenatal vitamins, and reduced physical activity can all contribute to constipation during pregnancy. Dietary strategies often provide relief without the need for laxatives.

Gestational Diabetes Risk Management

Women who conceive through ICSI may have a slightly higher risk of developing gestational diabetes. Proactive dietary strategies include:

  • Pairing carbohydrates with protein and healthy fats
  • Choosing complex carbohydrates over simple sugars
  • Regular meals and snacks to prevent blood sugar spikes and crashes
  • Moderate exercise as approved by your healthcare provider
  • Limiting added sugars and highly processed foods

Early nutritional intervention often prevents or minimizes the need for medication or insulin therapy.

Hydration and Supplements

Optimal Hydration

Daily needs: 8-10 cups (64-80oz) of fluids, primarily water

Adequate hydration supports:

  • Amniotic fluid production
  • Nutrient delivery to your baby
  • Prevention of urinary tract infections
  • Reduction of constipation and hemorrhoids
  • Temperature regulation

Hydration needs increase during pregnancy as your blood volume expands by up to 50%. Water is the ideal choice, with limited amounts of fruit-infused water, herbal teas, and diluted juices as alternatives.

Prenatal Supplements: Beyond the Basics

Core recommendations:

  • Prenatal multivitamin: Look for one with methylfolate rather than folic acid (better utilized by women with MTHFR gene variations)
  • Omega-3 supplement: If dietary intake is insufficient
  • Vitamin D: Based on blood level testing
  • Probiotic: Supports gut health and reduces inflammation

Additional considerations for ICSI pregnancies:

  • CoQ10: Some research suggests continuing this fertility-supporting supplement through the first trimester may support embryo development
  • Choline: Often insufficient in prenatal vitamins despite its crucial role in brain development
  • Inositol: May help manage insulin resistance in women with PCOS who conceived through ICSI

Always consult with your healthcare provider before starting any supplements, as individual needs vary.

Specialized Nutritional Considerations for ICSI Pregnancies

Multiple Pregnancy Nutrition

ICSI procedures sometimes result in twin pregnancies, which have unique nutritional requirements:

  • Higher caloric needs: 500-600 extra calories per day (compared to 300-400 for singleton pregnancies)
  • Increased protein: 100-120g daily
  • Higher iron requirement: Often requiring supplementation beyond prenatal vitamins
  • Earlier nutrient density: Twin pregnancies often deliver earlier, making early nutritional optimization crucial

Advanced Maternal Age Considerations

Many women pursuing ICSI are of advanced maternal age (35+), requiring specific nutritional awareness:

  • Increased choline needs: Supports healthy brain development
  • Antioxidant-rich foods: Help reduce oxidative stress
  • Optimal vitamin D status: May reduce complications more common in older mothers
  • Anti-inflammatory focus: Mediterranean-style eating pattern shows particular benefits

PCOS-Specific Nutrition (If Applicable)

Many women undergoing ICSI have polycystic ovary syndrome (PCOS), which benefits from tailored nutritional approaches:

  • Blood sugar stability: Regular meals containing protein, fiber, and healthy fats
  • Anti-inflammatory foods: Berries, leafy greens, fatty fish, nuts, seeds, olive oil
  • Limited refined carbohydrates: Focus on whole food sources with fiber
  • Appropriate weight management: Working with a registered dietitian for individualized guidance

Practical Meal Planning for ICSI Pregnancy

First Trimester Sample Meals (Focus: Nausea Management & Nutrient Density)

Breakfast options:

  • Ginger-banana smoothie with Greek yogurt and ground flaxseed
  • Steel-cut oatmeal with walnuts, berries, and a side of scrambled eggs
  • Whole grain toast with avocado and a hard-boiled egg

Lunch options:

  • Lentil soup with spinach and a side of crackers with cheese
  • Greek yogurt parfait with fruit, nuts, and granola
  • Quinoa bowl with roasted vegetables and grilled chicken

Dinner options:

  • Baked salmon with sweet potato and steamed broccoli
  • Turkey and vegetable stir-fry with brown rice
  • Chickpea pasta with tomato sauce, spinach, and ground turkey

Snacks:

  • Apple slices with almond butter
  • Cheese and whole grain crackers
  • Trail mix with nuts, seeds, and dried fruit
  • Greek yogurt with berries

Second and Third Trimester Sample Meals (Focus: Sustained Energy & Optimal Growth)

Breakfast options:

  • Veggie and cheese omelet with whole grain toast
  • Overnight chia pudding made with Greek yogurt and topped with berries
  • Whole grain pancakes with nut butter and fruit

Lunch options:

  • Mediterranean salad with chickpeas, feta, olives, and olive oil dressing
  • Whole grain wrap with hummus, vegetables, and grilled chicken
  • Quinoa and black bean bowl with avocado and salsa

Dinner options:

  • Baked cod with roasted Brussels sprouts and quinoa
  • Turkey meatballs with whole grain pasta and vegetable sauce
  • Slow cooker chicken and vegetable stew with a side salad

Snacks:

  • Hummus with vegetable sticks
  • Homemade energy balls (dates, nuts, coconut, cacao)
  • Greek yogurt with cinnamon and honey
  • Hard-boiled eggs

Working with Healthcare Professionals

The Fertility Nutrition Team Approach

For optimal support during your ICSI pregnancy, consider working with:

  • Reproductive Endocrinologist: Oversees your ICSI procedure and early pregnancy
  • Registered Dietitian Nutritionist (RDN): Provides personalized nutrition guidance
  • Obstetrician or Maternal-Fetal Medicine Specialist: Manages your pregnancy
  • Mental Health Professional: Supports emotional wellbeing, which impacts eating behaviors

Many fertility centers now offer integrated care teams to support all aspects of your ICSI journey.

Conclusion: Nourishing Your ICSI Pregnancy Journey

Nutrition during an ICSI pregnancy involves more than simply “eating for two”—it’s about providing the optimal building blocks for your baby’s development while supporting your changing body. By focusing on nutrient-dense whole foods, staying adequately hydrated, and working with healthcare professionals to address your individual needs, you create an internal environment that supports your precious pregnancy.

Remember that perfect eating isn’t the goal—consistency and overall dietary patterns have the greatest impact on pregnancy outcomes. Approach your ICSI pregnancy nutrition with knowledge, intention, and self-compassion, celebrating both this achievement and the powerful way your dietary choices support your growing baby.

References and Resources

  • American College of Obstetricians and Gynecologists. (2024). “Nutrition During Pregnancy.”
  • Academy of Nutrition and Dietetics. (2023). Position Paper: “Nutrition and Lifestyle for a Healthy Pregnancy Outcome.”
  • Harvard T.H. Chan School of Public Health. (2023). “Pregnancy Nutrition Guidelines.”
  • International Federation of Fertility Societies. (2024). “Nutrition Recommendations for ART Pregnancies.”
  • Journal of Assisted Reproduction and Genetics. (2023). “Nutritional Considerations for ICSI Pregnancies: A Review.”

This information is provided for educational purposes and should not replace personalized medical advice. Always consult with your healthcare provider regarding your specific nutritional needs during pregnancy.

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Special Prenatal Care for ICSI Pregnancies https://geneticsandfertility.com/special-prenatal-care-for-icsi-pregnancies/ https://geneticsandfertility.com/special-prenatal-care-for-icsi-pregnancies/#respond Thu, 17 Apr 2025 19:17:11 +0000 https://geneticsandfertility.com/?p=3855

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Introduction: Why Special Prenatal Care is Crucial for ICSI Pregnancies

Intracytoplasmic Sperm Injection (ICSI) has revolutionized fertility treatment, particularly for couples facing male factor infertility. As a specialized form of In Vitro Fertilization (IVF), ICSI involves the direct injection of a single sperm into an egg, bypassing many natural fertilization barriers. While ICSI has helped countless couples achieve pregnancy, these pregnancies do require special attention during prenatal care.

Pregnancies achieved through ICSI may have slightly different monitoring needs compared to naturally conceived pregnancies. This is not because ICSI pregnancies are inherently problematic—most result in perfectly healthy babies—but because we want to provide optimal care considering the journey taken to achieve pregnancy and some slightly elevated risks associated with assisted reproductive technologies.

Understanding ICSI and Its Implications for Pregnancy

Before discussing specialized prenatal care, it’s important to understand what ICSI involves and how it differs from conventional IVF. In standard IVF, eggs and sperm are placed together in a laboratory dish, allowing fertilization to occur naturally. In ICSI, a single sperm is selected by an embryologist and directly injected into the egg using a fine needle.

ICSI is typically recommended in cases of:

  • Low sperm count
  • Poor sperm motility
  • Abnormal sperm morphology
  • Previous unsuccessful IVF attempts
  • When preimplantation genetic testing is planned

While ICSI success rates are excellent, research indicates a slightly higher risk of certain complications compared to natural conception. These include a small increased risk of birth defects (3-5% compared to 2-3% in natural conception) and chromosomal abnormalities, particularly related to sex chromosomes. This is why specialized prenatal care is recommended.

First Trimester Monitoring

The first trimester of an ICSI pregnancy requires careful monitoring to ensure proper embryo implantation and development.

Early Beta-hCG Monitoring

Following embryo transfer, beta-hCG (human chorionic gonadotropin) blood tests are performed to confirm pregnancy and monitor early development:

  • First beta-hCG: 9-14 days post-transfer
  • Follow-up beta-hCG: 48-72 hours later to ensure appropriate doubling time
  • Multiple tests may be ordered until levels reach 1,500-2,000 mIU/mL

Early Ultrasounds

ICSI pregnancies typically receive earlier and more frequent ultrasounds:

  • First ultrasound: 5-6 weeks of pregnancy to confirm intrauterine pregnancy and rule out ectopic pregnancy
  • Follow-up ultrasound: 7-8 weeks to confirm fetal heartbeat and proper growth
  • Nuchal translucency scan: 11-13 weeks to assess risk of chromosomal abnormalities

Hormonal Support Monitoring

Many ICSI pregnancies require continued hormonal support in the first trimester:

  • Progesterone levels may be monitored to ensure adequate support
  • Estrogen levels may also be checked, particularly if the patient is on supplementation
  • Thyroid function tests are recommended, as thyroid disorders are more common in women with fertility issues

Genetic Screening and Diagnostic Testing

Given the slightly higher risk of genetic and chromosomal issues in ICSI pregnancies, comprehensive genetic screening is often recommended.

Non-Invasive Prenatal Testing (NIPT)

NIPT analyzes cell-free DNA from the placenta found in maternal blood and can be performed as early as 10 weeks:

  • Screens for common chromosomal conditions such as Down syndrome, Edwards syndrome, and Patau syndrome
  • Can detect sex chromosome abnormalities, which occur slightly more frequently in ICSI pregnancies
  • Offers high accuracy with a low false-positive rate

Invasive Diagnostic Testing Options

For patients with increased risk factors or abnormal screening results, diagnostic testing may be recommended:

  • Chorionic Villus Sampling (CVS): Performed at 10-13 weeks
  • Amniocentesis: Typically performed at 15-20 weeks
  • Microarray analysis can provide detailed genetic information beyond standard karyotyping

Screening for Pregnancy Complications

ICSI pregnancies, especially those in women of advanced maternal age or with other risk factors, benefit from vigilant monitoring for pregnancy complications.

Gestational Diabetes Screening

  • Early glucose challenge test may be performed in the first trimester for high-risk patients
  • Standard screening at 24-28 weeks for all patients
  • More frequent monitoring if glucose levels are borderline or elevated

Preeclampsia Risk Assessment and Prevention

  • Blood pressure monitoring at every prenatal visit
  • Urine protein screening
  • For high-risk patients, low-dose aspirin (81mg) may be recommended starting at 12-16 weeks
  • Early biomarker screening can help identify patients at higher risk

Multiple Pregnancy Considerations

Although modern ICSI protocols aim for single embryo transfers, multiple pregnancies still occur:

  • More frequent ultrasounds to monitor growth of each fetus
  • Earlier and more frequent fetal well-being assessments
  • Earlier screening for preterm labor risk
  • Consultation with maternal-fetal medicine specialist may be recommended

Fetal Growth and Development Monitoring

Ensuring proper fetal growth is critical in ICSI pregnancies.

Detailed Anatomy Scan

  • Comprehensive ultrasound at 18-22 weeks
  • Special attention to cardiac development, as certain heart defects may be slightly more common
  • Assessment of all major organ systems
  • Evaluation of placental position and function

Third Trimester Growth Scans

  • Serial ultrasounds every 3-4 weeks in the third trimester
  • Doppler studies to assess placental blood flow if growth concerns arise
  • Amniotic fluid assessment
  • Fetal position monitoring as delivery approaches

Medications and Supplements for a Healthy Pregnancy

Proper supplementation is crucial for optimizing outcomes in ICSI pregnancies.

Essential Supplements

  • Prenatal vitamins: Begin 3 months before conception if possible
  • Folic acid: 400-800 mcg daily (higher doses may be recommended for some patients)
  • Vitamin D: Levels should be checked and supplementation provided if deficient
  • Omega-3 fatty acids: Support fetal brain and eye development

Hormonal Support

  • Progesterone supplementation: Often continued through 10-12 weeks of pregnancy
  • Estrogen supplementation: May be required in some cases, particularly with donor eggs
  • Thyroid hormone: Monitored and supplemented as needed to maintain optimal levels

Medication Management

  • Careful review of all medications for safety during pregnancy
  • Transition from fertility medications to pregnancy-safe alternatives when needed
  • Documentation of all supplements and medications for coordination across healthcare providers

Special Considerations for Specific ICSI Scenarios

Different reasons for pursuing ICSI may warrant specific prenatal care approaches.

Advanced Maternal Age

Women over 35 undergoing ICSI may require:

  • More frequent prenatal visits
  • Additional genetic counseling
  • Consideration of cell-free DNA testing
  • Earlier screening for gestational diabetes
  • More vigilant monitoring for preeclampsia

Male Factor Infertility

When ICSI is performed due to male factor infertility:

  • Special attention to potential genetic inheritance patterns
  • Consider additional genetic screening if male partner has Y-chromosome microdeletions
  • Monitor for conditions like hypospadias which may be slightly more common

Prior Pregnancy Loss

For patients with previous losses:

  • Early and frequent reassurance ultrasounds
  • Closer monitoring of progesterone levels
  • Possible cervical length monitoring
  • Psychological support and counseling

Managing Anxiety in ICSI Pregnancies

The emotional journey through infertility treatment and subsequent pregnancy requires attention to mental health.

Understanding Pregnancy After Infertility

  • Recognition of post-infertility stress
  • Validation of complex emotions including joy, fear, and anxiety
  • Education about normal pregnancy symptoms versus concerning ones
  • Creating a supportive environment for questions and concerns

Mental Health Resources

  • Consideration of specialized counseling for pregnancy after infertility
  • Support groups for ICSI and IVF pregnancies
  • Mindfulness and stress reduction techniques
  • Partner inclusion in emotional support planning

Communication Strategies with Healthcare Team

  • Establishing clear communication protocols
  • Creating a responsive care team familiar with ICSI-specific concerns
  • Documentation of previous fertility treatment for all providers
  • Development of birth plans that address specific concerns

Preparing for Delivery and Beyond

Special planning for the birth process can help optimize outcomes.

Delivery Planning

  • Discussion of delivery options based on pregnancy course
  • Consideration of maternal age and other risk factors
  • Detailed birth plan development
  • Pediatrician selection with awareness of ICSI conception

Neonatal Considerations

  • Advance communication with pediatric team about ICSI conception
  • Planning for any specialized evaluations if indicated
  • Lactation support planning
  • Discussion of long-term follow-up needs, if any

Conclusion: Preparing for a Smooth Pregnancy Journey

ICSI pregnancies, while requiring some special consideration, most often result in healthy babies and normal pregnancies. The key to optimal outcomes lies in comprehensive prenatal care that acknowledges the unique journey to conception while providing evidence-based monitoring and support.

By working closely with your healthcare team, understanding the specific needs of an ICSI pregnancy, and maintaining open communication about concerns, you can navigate this special pregnancy with confidence. Remember that the vast majority of ICSI-conceived children develop normally and that the additional monitoring is primarily precautionary to ensure the best possible start for your growing family.

 

References and Further Reading

Centers for Disease Control and Prevention (CDC)
Birth defects statistics and prevention information
www.cdc.gov/birthdefects

American Society for Reproductive Medicine (ASRM)
Guidelines on genetic considerations in fertility treatments
www.asrm.org

March of Dimes
Birth defects prevention and resources
www.marchofdimes.org

For the most current information and personalized guidance, please consult with your Fertility specialist.

Disclaimer: This information is intended for educational purposes and should not replace personalized medical advice from your healthcare provider. Always consult with your physician for guidance specific to your individual situation.

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Birth Defect Risks in ICSI Pregnancies: What the Research Shows https://geneticsandfertility.com/birth-defect-risks-in-icsi-pregnancies/ Fri, 14 Mar 2025 12:08:25 +0000 https://geneticsandfertility.com/?p=3835

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If you’re considering ICSI or have conceived through this procedure, questions about birth defect risks have likely crossed your mind. It’s completely natural to wonder about these risks when pursuing any fertility treatment. Let’s explore what the research tells us about birth defect risks in ICSI pregnancies and how you can make informed decisions for your growing family.

Understanding the Concerns ⚠

Intracytoplasmic Sperm Injection (ICSI) involves directly injecting a single sperm into an egg, bypassing natural selection processes. This raises questions about whether this intervention might affect the baby’s development.

Some common concerns include:

  • Whether the procedure itself increases birth defect risks
  • If the underlying fertility issues might contribute to risks
  • How these risks compare to natural conception
  • What can be done to minimize potential risks

Let’s address these questions with the latest scientific evidence.

Research on Birth Defect Rates in ICSI Babies 📊

According to data from the Centers for Disease Control and Prevention (CDC) and other major research institutions:

✅ Overall birth defect risk: 2-3% for natural conception
⚠ Birth defect risks in ICSI pregnancies: 3-5% (slightly elevated)
✅ Most common types: Similar to those in natural conception

What the numbers mean:

  • There is a small increased risk of birth defects with ICSI
  • The vast majority (95-97%) of ICSI babies are born without major congenital abnormalities
  • The slight increase may be partially related to parental factors rather than the procedure itself

Types of Birth Defects That May Be Slightly More Common ⚠

Research suggests certain conditions may occur at slightly higher risks in ICSI pregnancies:

🧬 Chromosomal Abnormalities

  • Sex chromosome abnormalities (0.8-1% vs 0.2% in natural conception)
  • Slightly higher rates of conditions like Prader-Willi and Angelman syndromes

👶 Structural Birth Defects

  • Hypospadias (urethral opening issue in male babies)
  • Certain heart defects
  • Musculoskeletal conditions

🧠 Developmental Considerations

  • Most studies show normal cognitive development
  • Mixed findings on very slight increases in developmental disorders
  • Long-term follow-up studies continue to show reassuring results

Genetic Factors and ICSI: What We Know 🔍

Sperm DNA Fragmentation

  • Men with infertility often have higher levels of DNA fragmentation in sperm
  • This may contribute to slightly higher birth defect rates, rather than the ICSI procedure itself
  • Advanced sperm selection techniques can help identify healthier sperm

Underlying Fertility Issues

  • Many genetic factors causing infertility may independently increase birth defect risks
  • Separating these factors from the ICSI procedure itself is challenging
  • Genetic counseling before treatment can identify potential inherited risks

Paternal Age Factors

  • Advanced paternal age (>45) may increase certain genetic risks
  • Similar effects are seen in natural conception
  • Genetic testing can help screen for these risks

Screening for Birth Defects During Pregnancy 🩺

If you’ve conceived through ICSI, your healthcare provider may recommend:

🔬 First Trimester Screening

  • Non-Invasive Prenatal Testing (NIPT): Blood test analyzing fetal DNA for chromosomal abnormalities
  • Nuchal Translucency: Ultrasound measuring fluid at the back of baby’s neck
  • Blood Tests: Measuring hormone levels that may indicate increased risks

📋 Second Trimester Screening

  • Quad Screen: Blood test for specific proteins and hormones
  • Detailed Anatomy Scan: Comprehensive ultrasound at 18-22 weeks
  • Echocardiogram: Detailed heart examination if indicated

🧪 Diagnostic Testing

  • Amniocentesis: Testing amniotic fluid for chromosomal and genetic disorders
  • Chorionic Villus Sampling (CVS): Testing placental tissue earlier in pregnancy
  • Microarray Analysis: Detailed genetic testing if abnormalities are suspected

Ways to Reduce Birth Defect Risks in ICSI Pregnancies 🌱

While some risks cannot be eliminated, several strategies can help optimize your chances for a healthy pregnancy:

🧬 Preimplantation Genetic Testing (PGT) Options

PGT has revolutionized fertility treatment by allowing genetic screening of embryos before transfer, significantly reducing certain birth defect risks:

PGT-A (Aneuploidy Screening)

  • Screens embryos for correct chromosome number (23 pairs)
  • Can detect Down syndrome, Turner syndrome, and other chromosomal conditions
  • Reduces miscarriage risk and improves implantation rates
  • Particularly beneficial for women over 35 or those with recurrent pregnancy loss

PGT-M (Monogenic/Single Gene Disorder Testing)

  • Tests for specific inherited genetic conditions like cystic fibrosis, sickle cell anemia, or Tay-Sachs
  • Requires knowing which specific genetic mutations to test for
  • Usually recommended when one or both partners are known carriers
  • Can virtually eliminate the risk of passing on the tested condition

PGT-SR (Structural Rearrangements)

  • Identifies embryos affected by chromosome structural issues like translocations
  • Important for patients with known balanced translocations
  • Can significantly reduce miscarriage risk for affected couples

The PGT Process:

  1. Embryos are created through standard ICSI procedure
  2. Embryologists take a small biopsy from each embryo (usually at blastocyst stage)
  3. Cells are sent to a specialized genetics lab for analysis
  4. Results typically take 1-2 weeks
  5. Only embryos confirmed as genetically normal are transferred

 

🧬 Additional Preconception Options

  • Advanced Sperm Selection: Techniques like PICSI or MACS can select sperm with better DNA integrity
  • Comprehensive Genetic Carrier Screening: Tests both partners for 300+ recessive genetic conditions
  • Karyotyping: Chromosome analysis that can identify structural issues before treatment

💊 During Pregnancy

  • Prenatal Vitamins: Begin taking them 3 months before conception if possible
  • Folic Acid: 400-800 mcg daily reduces neural tube defects
  • Avoid Known Teratogens: Alcohol, smoking, certain medications
  • Manage Chronic Conditions: Especially diabetes and epilepsy

👩‍⚕️ Medical Care

  • Regular Prenatal Visits: Early and consistent monitoring
  • Consider Maternal-Fetal Medicine: Specialized care for higher-risk pregnancies
  • Follow Through with Recommended Screenings: Early detection allows for better preparation and treatment

What Parents Should Know About the Risks ✅

Here’s the most important perspective to keep in mind:

  • Absolute risk remains low: Even with the slight increase, over 95% of ICSI babies are born without major birth defects
  • Many factors are within your control: Preconception health, genetic testing, prenatal care
  • Early detection is possible: Modern screening methods can identify many conditions early
  • Treatment options continue to improve: Medical advances are constantly improving outcomes

Talking With Your Doctor

Questions to ask your fertility specialist or obstetrician:

  • What specific screening tests do you recommend based on my personal risk factors?
  • Should we consider preimplantation genetic testing?
  • What lifestyle changes would be most beneficial in my specific case?
  • How will my prenatal care differ from someone who conceived naturally?

Conclusion

While ICSI is associated with a small increased risk of birth defects, this should be viewed in context. The vast majority of ICSI-conceived children are born healthy, and many preventive measures can further reduce risks.

Remember that many factors contributing to the slight increase in risk may be related to underlying fertility issues rather than the ICSI procedure itself. Working closely with your healthcare providers and following recommended screening protocols provides the best foundation for a healthy pregnancy.

If you have specific concerns about birth defect risks, discuss them openly with your reproductive endocrinologist or obstetrician, who can provide personalized guidance based on your medical history and specific situation.

References and Further Reading

Centers for Disease Control and Prevention (CDC)
Birth defects statistics and prevention information
www.cdc.gov/birthdefects

American Society for Reproductive Medicine (ASRM)
Guidelines on genetic considerations in fertility treatments
www.asrm.org

March of Dimes
Birth defects prevention and resources
www.marchofdimes.org

For the most current information and personalized guidance, please consult with your Fertility specialist.

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The Role Of Genetics in Fertility Treatments: What You Need to Know https://geneticsandfertility.com/role-of-genetics-in-fertility-treatments/ Fri, 30 Aug 2024 21:51:45 +0000 https://geneticsandfertility.com/?p=3635

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The Role of Genetics in Fertility Treatments: Preimplantation Genetic Testing

Introduction

Genetics plays a significant role in fertility treatments. Infertility affects approximately 10% of the reproductive-age population, with about 1 in 6 people worldwide experiencing infertility challenges. Understanding the genetic factors behind these issues is crucial for effective treatment.

Assisted reproductive technologies (ART), such as in vitro fertilization (IVF), are pivotal in addressing infertility. ART includes advanced procedures like Preimplantation Genetic Diagnosis (PGD), Preimplantation Genetic Screening (PGS), and Preimplantation Genetic Testing (PGT). These techniques enhance the chances of conception by selecting embryos with the best genetic health.

Key Takeaway: The integration of genetics in fertility treatments, through methods like PGD, PGS, and PGT, can significantly improve your chances of successful conception.

Understanding the Genetic Factors Behind Infertility

Genetic factors play a crucial role in infertility, often manifesting through specific genetic disorders or chromosome problems. These genetic abnormalities can interfere with reproductive processes, leading to challenges in conception.

The Importance of Understanding Inheritance Patterns in Fertility

Understanding inheritance patterns is vital for identifying potential genetic risks associated with infertility. These patterns can reveal whether certain conditions are likely to be passed down from one generation to the next.

  • Autosomal Dominant Inheritance: A single copy of the mutated gene can cause the disorder.
  • Autosomal Recessive Inheritance: Two copies of the mutated gene are required for the disorder to manifest.
  • X-linked Inheritance: Disorders linked to genes on the X chromosome, affecting males more severely than females.

Recognizing these patterns helps tailor fertility treatments and provides valuable insights into potential outcomes for couples facing infertility challenges.

Genetic Testing Options for Couples Facing Infertility

Genetic testing methods are essential tools for couples dealing with infertility, providing crucial insights into underlying genetic issues. Various tests are available to identify potential genetic causes of infertility:

1. Karyotype Tests

These tests analyze the number and structure of chromosomes in a person’s cells. They help identify chromosomal abnormalities such as translocations, inversions, or aneuploidies that can lead to infertility or recurrent miscarriages. For instance, a balanced translocation in one of the partners might cause implantation failure or early pregnancy loss.

2. Expanded Carrier Screening

This method screens for a wide range of recessive genetic diseases that could affect offspring. By identifying carrier status for conditions like cystic fibrosis, spinal muscular atrophy, or fragile X syndrome, couples can make informed decisions about their reproductive options.

Both karyotype tests and expanded carrier screening play vital roles in diagnosing genetic factors contributing to infertility. By understanding these genetic elements, healthcare providers can better tailor fertility treatments to improve the chances of successful conception.

Preimplantation Genetic Testing (PGT): Optimizing Embryo Selection During IVF

Preimplantation genetic testing (PGT) is a crucial procedure in the realm of assisted reproductive technologies. It encompasses two primary types: preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS).

1. Preimplantation Genetic Diagnosis (PGD)

This process involves testing embryos for specific genetic disorders that one or both parents are known carriers of. PGD helps prevent the transmission of inherited conditions such as cystic fibrosis or sickle cell anemia.

2. Preimplantation Genetic Screening (PGS)

Unlike PGD, PGS examines embryos for chromosomal abnormalities that are not linked to a known parental condition. It identifies issues like aneuploidy, where embryos have missing or extra chromosomes, which can lead to failed implantation or miscarriage.

How PGT Enhances IVF Success Rates

By selecting genetically healthy embryos through PGT, the chances of a successful in vitro fertilization (IVF) cycle significantly improve. Healthy embryos are more likely to implant successfully and develop into viable pregnancies. This selection process:

  • Reduces Miscarriage Rates: By ensuring embryos have the correct number of chromosomes, the risk of miscarriage due to chromosomal abnormalities decreases.
  • Increases Live Birth Rates: Couples experience higher live birth rates as only the most viable embryos are chosen for transfer.

Including PGT in your fertility treatment plan at a reputable clinic like Genetics and Fertility, which offers advanced services such as IVF, IUI, ICSI, PGD, PGS and more, can enhance your chances of conception and lead to healthier pregnancy outcomes.

The Benefits and Considerations of PGT in Fertility Treatments

Reducing Miscarriage Risks

Preimplantation Genetic Testing (PGT) significantly reduces the risk of miscarriage. By selecting embryos with the correct chromosome count, PGT ensures that only genetically healthy embryos are implanted, thereby decreasing the chances of genetic abnormalities that often lead to miscarriage.

Identifying Suitable Candidates for PGT

PGT is particularly beneficial for specific groups:

  • Women over 37 years old: Age-related chromosomal abnormalities increase with maternal age.
  • Couples at risk for genetic diseases: Those with a history of inherited disorders.
  • Individuals with recurrent miscarriages: Helps identify underlying genetic issues.

Using PGT not only improves IVF success rates but also provides peace of mind by minimizing the emotional and physical toll associated with repeated IVF failures.

Tailoring Fertility Treatments with Genetic Information at Fertility Center and Applied Genetics of Florida

Integrating genetic information into fertility treatments is transforming personalized medicine in the field. At the Fertility Center and Applied Genetics of Florida, genetic insights are used to create customized treatment plans that specifically address the unique genetic makeup of each couple or individual.

How Genetic Information Enhances Treatment Plans:

  • Customized Medication Plans: Genetic screening helps identify how individuals metabolize various medications, allowing for precise dosage adjustments.
  • Targeted Interventions: By understanding specific genetic mutations, doctors can recommend specific interventions that address underlying issues directly.
  • Enhanced Embryo Selection: Utilizing preimplantation genetic testing (PGT), clinics can select the healthiest embryos, increasing the chances of a successful pregnancy.

Examples from Leading Clinics:

  1. Precision Medicine Approach: Clinics use comprehensive genomic profiling to tailor treatments, optimizing hormone therapies based on genetic susceptibility.
  2. Risk Management: Genetic data helps in assessing risks for conditions like PCOS or endometriosis, allowing for preemptive measures in treatment protocols.
  3. Advanced Screening Methods: Implementing expanded carrier screenings ensures that couples are aware of potential hereditary conditions, enabling informed decisions about their reproductive journey.

At Fertility Center and Applied Genetics of Florida we consider both medical history and genetic predispositions. This approach not only enhances fertility treatment outcomes but also provides peace of mind for prospective parents by addressing potential challenges proactively. The positive feedback from patients further attests to the effectiveness of this approach, as seen in their reviews.

Conclusion: The Role of Genetics in Successful Fertility Treatments at Fertility Center and Applied Genetics of Florida

Using genetic information in fertility treatments can greatly increase the chances of getting pregnant. If you live in the Tampa Bay area, considering options like PGD, PGS, and PGT procedures is a proactive step toward making your dream of becoming a parent come true.

The Fertility Center and Applied Genetics of Florida specializes in using advanced genetic knowledge to improve fertility treatments. Contact us to find out how these innovative methods can assist you in your fertility journey, giving you more assurance and success.

 


 

The top image: Fertility © Poppypixstock

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ACOG Recommends Expanded Genetic Screening https://geneticsandfertility.com/acog-recommends-expands-genetic-screening/ Fri, 25 Sep 2020 20:43:54 +0000 http://dev.geneticsandfertility.com/?p=1180

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American College of Obstetrics and Gynecology (ACOG) recommends carrier genetic screening.

In the March issue of Obstetrics & Gynecology journal published by the American College of Obstetrics and Gynecology (ACOG) there are two committee opinions that recommend expanded carrier screening for recessive genetic disorders.

This is due to the lower costs of expanded testing in our current age of “Genomic Medicine.”  Pre-conception genetic screening gives future parents valuable information as there are currently commonly employed technologies that can prevent the birth of an affected child.  Couples have the very viable option of Pre-implantation Genetic Disease (PGD) screening of embryos through “in vitro” fertilization procedures.  The committee opinions are well written and I plan to use them as part of my informed consent process.

First, some basic notions:

” Carrier genetic screening is a term used to describe genetic testing that is performed on an individual who does not have any overt phenotype for a genetic disorder but may have one variant allele within a gene(s) associated with a diagnosis. Information about carrier screening should be provided to every pregnant woman. Carrier screening and counseling ideally should be performed before pregnancy because this enables couples to learn about their reproductive risk and consider the most complete range of reproductive options. A patient may decline any or all screening.”

Fair enough. It makes a lot of sense to be informed beforehand about any adversity you might encounter on your path.

” When an individual is found to be a carrier for a genetic condition, his or her relatives are at risk of carrying the same mutation. The patient should be encouraged to inform his or her relatives of the risk and the availability of carrier genetic screening. If an individual is found to be a carrier for a specific condition, the patient’s reproductive partner should be offered testing in order to receive informed genetic counseling about potential reproductive outcomes. If both partners are found to be carriers of a genetic condition, genetic counseling should be offered. “

Here is an excerpt from the committee’s recommendations:

  • Ethnic-specific, pan-ethnic, and expanded carrier screening are acceptable strategies for prepregnancy and prenatal carrier screening. Each obstetrician–gynecologist or other health care provider or practice should establish a standard approach that is consistently offered to and discussed with each patient, ideally before pregnancy. After counseling, a patient may decline any or all carrier screening.
  • If a patient requests a screening strategy other than the one used by the obstetrician–gynecologist or other health care provider, the requested test should be made available to her after counseling on its limitations, benefits, and alternatives.
  • All patients who are considering pregnancy or are already pregnant, regardless of screening strategy and ethnicity, should be offered carrier screening for cystic fibrosis and spinal muscular atrophy, as well as a complete blood count and screening for thalassemias and hemoglobinopathies. Fragile X premutation carrier screening is recommended for women with a family history of fragile X-related disorders or intellectual disability suggestive of fragile X syndrome, or women with a personal history of ovarian insufficiency. Additional screening also may be indicated based on family history or specific ethnicity.

Essentially, their recommendations are all common sense: gather all information that’s possible at the moment, consult with a specialist, get clear understanding of the meaning of it, make your informed decision.

The committee opinions are clear and very well written. Our Clinic has been on the forefront of pre-implantation genetic testing (both, genetic screening and genetic  diagnosis) for our patients from the very beginning. And as I commented earlier, we plan to use the recommendations as part of our informed consent process.

You can read the ACOG Journal here.

 

Julio E. Pabon, M.D. 2014
Julio E. Pabon, M.D. , F.A.C.O.G., C.E.O., Fertility Center & Applied Genetics of Florida

 

 

 

 

 

 

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IVF Success with PGD, PGS: Videos in Spanish, Portuguese, Japanese, and Mandarin https://geneticsandfertility.com/ivf-pgs-pgd-success-videos-for-foreigners/ Mon, 23 Dec 2019 15:29:57 +0000 http://dev.geneticsandfertility.com/?p=1592

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IVF Success Rates Increase With PGS PGD Pre-Implantation Genetic Testing

 

Improving PGS Success with PGS Testing video in Spanish

Improving PGS Success with PGS Testing video in Portuguese

Improving PGS Success with PGS Testing video in Mandarin

Improving PGS Success with PGS Testing video in Japanese

 

Also:

Pre-Implantation Genetic Testing Services

Genetic disorders we screen for

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PGD To Prevent Diseases https://geneticsandfertility.com/services/pre-implantation-genetic-testing/genetic-diseases-we-screen-for/ Mon, 23 Dec 2019 10:07:50 +0000 http://dev.geneticsandfertility.com/?page_id=1466

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  2. Frequently Asked Questions & Answers
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PGD Prevents Genetic Diseases


PGD Prevents Genetic Diseases because pre-implantation genetic diagnosis allows the IVF clinic to test embryos (blastocysts) in the laboratory before implanting them into the patient. Some of the more common PGD indications for IVF are Cystic Fibrosis, Spinal Muscular Atrophy, Fragile X, and Sickle Cell Anemia.
Some patients have also sought PGD in order to have a child that is a good match for an older sibling that needs a tissue transplant. This application of PGD and IVF is not without controversy or critics. Each case is handled on an individual basis. Please refer to the general PGD/PGS section of this site for further information on these procedures.

Diseases we test for:

The DNA that two individuals mix together to make a baby is unique. Our primary reference laboratory for PGS and PGD, Genesis Genetics is known globally for their ability to test for some of the rarest genetic conditions, as well as the more common ones. Couples who are at-risk for essentially any serious inherited disease (They will not test for trivial traits like eye color, hair color, etc.) can reduce this risk to their offspring by working with our team.

Below are some of the genetic disorders for which genesis has successfully performed PGD. This is in no way a complete list of diseases for which PGD is possible; we add to this list every week. We can test for essentially any genetic disease that has been identified by a mutation report. If the disease of concern in your family is not listed below, contact us to determine if PGD is possible.

DiseaseGenes that have been tested
A 
AarskogFGD1
AchondroplasiaFGFR3
AdrenoleukodystrophyABCD1
AgammaglobulinemiaBTK
Alagille SyndromeJAG1
Alpha ThalassemiaHBA
Alpha-antitrypsinAAT
Alport SyndromeCOL4A5
AmyloidosisTTR
AniridiaPAX6
Ankylosing spondylitisHLA-B27
Argininosuccinic AciduriaASL
Autoimmune Polyendocrine SyndromeAIRE
Apert/Crouzon/PfeifferFGFR2
  
B 
Bardet Biedl SyndromeBBS1 and BBS10
Barth Dilated CardiomyopathyTAZ
Basal Cell Nevus Syndrome aka gorlinPTCH
Beta ThalassemiaHBB
Birt-Hogge-DubeFLCN
Blepharophimosis-ptosis-epicanthus inversusFOXL2
BrachydactylyGDF5
Brachydactyly – Hypertension SyndromeHTNB
Hereditary Breast and Ovarian CancerBRCA1 and BRCA2
  
C 
CADASIL – cerebral arteriopathy, AD, with subcortical infarcts & leukoencephalopathyNotch3
CanavanASPA
Carnitine – AcylCarn TranslocaseSLC25A20
Cerebral Cavernous MalformationCCM1
Ceroid-lipofuscinoses-BattonPPT1
Charcot Marie ToothPMP22, NEFL, GJB1 and MPZ
CherubismSH3BP2
ChoroideremiaCHM
Chronic Granulomatous DiseaseCYBB
Ciliary DyskinesiaDNAH5
CitrullinemiaASS1
Cleidocranial DysplasiaRUNX2
Cockayne SyndromeERCC6
Congenital Adrenal HyperplasiaCYP21A2
Congenital Disorder of GlycosylationCGD1
Congenital Icthyosis (Harlequin)ABCA12
Cornelia de Lange SyndromeNIPBL
Cystic FibrosisCFTR
Cysteinyl Leukotriene Receptor 1 DeficiencyCYSLTR1
  
D 
D-Bifunctional Protein DeficiencyHSD17B4
Darier DiseaseATP2A2
Deafness, Autosomal RecessiveGJB2 and GJB6
Denys-Drash SyndromeWT1
Desmin Storage MyopathyDES
Duchenne/Becker MDDMD
Dyskeratosis CongenitaDKC1
DystoniaTOR1A
Dystrophia MyotonicaDMPK
  
E 
Ectodermal DysplasiaEDA1 and GJB6
Ectrodactyly- Clefting SyndromeTP63
Ehlers DanlosCOL3A1
Emery-Dreifuss Muscular DystrophyEMD and LMNA
Epidermolysis BullosaKRT5, KRT14, LAMB3, ITGB4 and COL7A1
  
F 
Fabry DiseaseGLA
Facioscapulohumeral dystrophyFRG1
Factor V LeidenF5
Familial Adenomatous PolyposisAPC
Familial DysautonomiaIKBKAP
Familial Exudative VitreoretinopathyFZD4
Fanconi AnemiaFANCA, FANCC, FANDC2, FANCF, FANCJ and FANCG
Finnish NephrosisNPHS1
Fragile XFMR1
  
G 
GalactosemiaGALT
Gaucher DiseaseGBA
Gerstman-Straussler DiseasePRNP
Gluteric AcidemiaETFA and GCDH
Glycogen Storage DiseaseG6PC, SLC37A4, and GAA
gm1 gangliosidosisGLB1
Greig CephalopolysyndactylyGLI3
  
H 
Huntington Disease – NondisclosingHD
Hemophagocytic LymphohistiocytosisHPLH1 and PRF1
Hemophilia AF8
Hemophilia BF9
Hereditary AngioedemaC1NH
Hereditary Hemmorhagic TelangectasiaHHT1
Hereditary LeiomyomatosisFH
Hereditary LymphedemaFOXC2
Hereditary Nonpolyposis Colon CancerMSH2, MLH1
Hereditary PancreatitisPRSS1
HLAHLA-A
Holt-OramTBX5
HomocystinuriaCBS
Hunter SyndromeIDS
Huntington DiseaseHD
Hurler SyndromeIDUA
Hydrocephalus, X-linkedL1CAM
Hypertrophic CardiomyopathyLDB3, MYH7, TNNT2, and MYBPC3
Hypokalemic periodic paralysisSCN4A
HypophosphatasiaALPL
  
I 
Inclusion Body Myopathy with Early-Onset Paget Disease & Frontotemporal DementiaVCP
Incontinentia PigmentiNEMO
IPEX- immunodysregulation, polyendocrinopathy, and enteropathy, x-linkedFOXP3
  
J 
Joubert SyndromeINPP5E
  
K 
Kallmann SyndromeFGFR1
KELL AntigenKEL
Kennedy-Spinal bulbarSMAX1
Krabbe DiseaseGALC
  
L 
Leber Retinal Congenital Amaurosis -XGUCY2D and CEP290
Leigh Complex 1 Deficiencyc20ORF7
Leigh SyndromeLRPPRC
Leukocyte Adhesion DeficiencyITGB2
Li Fraumeni Syndromep53
Limb Girdle MDPOMT1 and LMNA
Long QT SyndromeKCNQ1, SCN5A and KCNE2
  
M 
Macular DystrophyVMD2
Maple Syrup Urine DiseaseBCKDHB
Marfan SyndromeFBN1
Meckel GruberMKS1 and MKS3
MCADDMCADH
MenkesATP7A
Merosin-deficient congenital muscular dystrophy 1AMCD1A
Metachromatic LeukodystrophyARSA
Methylmalonic AcidemiaMUT and MMACHC
MicrophthalmiaCHX
Mucolipidosis 2 I-CellGNPTAB
Multiple Endocrine NeoplasiaMEN1, MEN2A, MEN2B
Multiple ExostosesEXT1 and EXT2
Myasthenia GravisCHRNE
Myotubular MyopathyMTM
  
N 
NEMO immunodeficiencyNEMO
Neurofibromatosis 1NF1
Neurofibromatosis 2NF2
Niemann-PickSMPD1 and NPC1
Nonketotic HyperglycinemiaAMT and GLDC
Noonan SyndromeKRAS, PTPN11 and SOS1
Norrie DiseaseNDP
  
O 
Ocular AlbinismGPR143
Oculocutaneous AlbinismTYR and OCA2
Oculodentaldigital DysplasiaGJA1
Optic AtrophyOPA1
Ornithine Transcarbamylase DeficiencyOTC
Osteogenesis ImperfectaCOL1A2 and COL1A1
OsteopetrosisOSTM1, CLCN7 and TCIRG1
OTOF related deafnessOTOF
  
P 
Pachyonychia CongenitaKRT16, KRT6A
Peutz-Jeghers SyndromeSTK11
PhenylketonuriaPAH
PheochromocytomaSDHB
Polycystic Kidney DiseasePKD1 and PKD2
Polycystic Kidney Disease, ARPKHD1
Pompe DiseaseGAA
PseudohypoparathyroidismGNAS1
  
R 
Retinitis PigmentosaRHO
RetinoblastomaRB1
RetinoschesisRS1
RettMeCP2
RhDRHD
Rothmund-ThomsonRECQL4
  
S 
SanfillipoSGSH
Sathre-Chozen CraniosynostosisTWIST
Shwachman-Diamond syndromeSBDS
SCIDADA and IL2RG
Senior-Loken SyndromeIQCB1
SexingX and Y
Short Rib Polydactyly SyndromeDYNC2H1
Sickle Cell AnemiaHBB
Simpson-Golabi-BehmelGPC3
Sjogren-LarssonALDH3A2
Smith Lemli OpitzSLOS
Sorsby Fundus DystrophyTIMP3
Spinal Muscular AtrophySMN1
Spinocerebellar Ataxia 1ATNX1
Spinocerebellar Ataxia 2ATXN2
Spinocerebellar Ataxia 3SCA3
Spinocerebellar Ataxia 7ATXN7
Spondyloepiphyseal DysplasiaCOL2A1
Stickler syndromeCOL2A1
Surfactant Pulmonary BSFTPB
  
T 
Tay-Sachs DiseaseHEXA
Thrombocytopenia with Beta ThalassemiaGATA1
Torsion dystoniaDYT1
Treacher CollinsTCOF1
Tuberous SclerosisTSC1 and TSC2
  
U 
Ullrich Congenital Muscular DystrophyCOL6A2 and COL6A3
Usher SyndromeMYO7A
  
V 
von Hippel-LindauVHL
  
W 
WaardenburgMITF and PAX3
Walker-Warburg SyndromeFKTN
Wiskott-AldrichWAS
Wolman Lipase ALIPA
  
Z 
ZellwegerPEX1

What if there are no normal pre-embryos available for transfer?

  • Aneuploidy screen for advanced maternal age, recurrent pregnancy loss, and recurrent IVF failures.
  • Sex linked recessive disorders
  • Chromosomal translocations
  • Kleinfelter syndrome
  • Sex chromosome masaicism

Common Monogenic (single gene) diseases (Also see above table)

  • Cystic Fibrosis
  • Beta Thallasemias
  • Spinal muscular dystrophy
  • Tay-Sachs
  • Rh isoimunization
  • Gaucher disease
  • Sandhoff disease
  • Sickle cell anemia
  • Adrenoleukodystrophy
  • Dystonia
  • Factor V Leiden
  • Familial hypophosphatemia
  • Fanconi anemia
  • Freidrech ataxia
  • Medium chain AcylCoA deficiency
  • Methymalonic acidemia
  • Ornithine transcarbamylase deficiency
  • Pyruvate dehydrogenase deficiency
  • Polycystic kidney disease

Autosomal dominant diseases

  • Myotonic dystrophy
  • Huntington’s disease
  • Charcot-Marie-Tooth disease
  • Neurofibromatosis type 1
  • Marfan’s syndrome
  • Osteogenesis imperfecta

X-linked Diseases

  • Duchene and Becker’s muscular dystrophy
  • Hemophilia
  • Fragile X syndrome
  • Wiskott-Aldrich syndrome
  • Charcott-Marie Tooth disease
  • Coffin-Lowry syndrome
  • Granulomatous disease
  • Hydrocephalus
  • Agammaglobuminemia
  • Ataxia
  • X linked Autism
  • Barth Syndrome
  • Golz syndrome
  • Hunter syndrome
  • Hypohydrotic ectodermal dysplasia
  • Lucontinental pigmenti
  • Kennedy disease
  • Lowe syndrome
  • Pelizaeus-Merzbacher syndrome
  • Proliferative disease
  • Retinitis pigmentosa
  • Retinischisis
  • Vitamin D resistant rickets
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Frequently Asked Questions & Answers https://geneticsandfertility.com/services/pre-implantation-genetic-testing/frequently-asked-questions/ Mon, 23 Dec 2019 09:29:48 +0000 http://dev.geneticsandfertility.com/?page_id=1460

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Frequently Asked Questions

I have no fertility problem. Why is my chance of pregnancy not 100%?

Frequently Ask Questions

Here You Can Get Answer Of Frequently Ask Questions,

Infertility is characterized as not having the option to get pregnant subsequent to having normal intercourse (sex) without contraception following one year (or following a half year if a lady is 35 years or more established).

Fertility implies having the option to get pregnant (consider), and it includes numerous means, which must work perfectly for a lady to get pregnant. Around 90 out of 100 couples will have the option to get pregnant inside a year of endeavouring.

Causes infertility in women?

Ovulation problems

Most instances of fruitlessness are brought about by issues with ovulation. Ovulation is the arrival of the egg from the lady’s ovary, which happens once every month, around 12–14 days before the principal day of each menstrual period. Without ovulation, a lady can’t get pregnant. Ovulation issues can be brought about by hormone irregular characteristics from an assortment of causes.

We have found that even patients with normal fertility in the past make abnormal pre-embryos. When processing the cell or cells removed from the pre-embryo, these cells are tested for other common chromosomal problems that can result in an abnormal pregnancy. Of course, the genetically abnormal pre-embryos cannot be transferred into the mother.

Pregnancy rates in humans decrease with age. One reason for this is that the eggs available for conception were made prior to birth. The chromosomes in these immature eggs are in a state of arrested cell division that when prolonged more than 32 years starts to result in more genetically abnormal eggs. 

That is why we also see increased rates of miscarriage as well as increased rates of chromosomally abnormal babies as mothers get older. [Down’s syndrome results from an egg that matured containing two copies of chromosome # 21. 

When a normal sperm fertilizes this egg and adds another chromosome #21, the resulting embryo, fetus, or child would contain three copies of this chromosome. Excess chromosomes and missing chromosomes are common in human conceptuses. Fortunately, mother nature usually ends abnormal pregnancies very early.

 That is why a 29 year old has a one in one thousand chance of having a child with Down’s syndrome while a forty year old’s chance is about one in one hundred.
In summary, everyone makes abnormal embryos. With PGS/PGD one may know whether up to ten pairs of chromosomes are normal or not. Over the years our pregnancy rate with PGS/PGD has always remained around 50% while the children born have demonstrated no genetic surprises regarding sex or other chromosomes tested. Please review the issue of genetic mosaicsm with Dr. Pabon or with the genetic counselor.

What if there are no normal pre-embryos available for transfer?

Patients must think ahead and understand that regardless of their age, there may be no normal pre-embryos available for transfer. Reproduction in humans can be inefficient. Humans make abnormal gametes all the time and this phenomenon usually results in a failed attempt at conception or a pregnancy loss. Sometimes the results of the pre-implantation genetic screening inform us that there is a pre-embryo of the sex desired by the patients but that the pre-embryo has also been found to have abnormalities in other chromosomes tested other than the sex chromosomes.

For more information on Pre-Implantation & Genetic Screening as it relates to Family Balancing & Sex Selection, please click here.

What if not all Pre-embryos have complete genetic results?

The Fluorescent In Situ Hybridization procedures that tag the chromosomes with colorful probes may not yield results for all the chromosomes tested. Sometimes we transfer normal appearing pre-embryos with some chromosomal results lacking. Dr. Pabon or the genetic counselors can explain this further.

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PGS And PGD IVF https://geneticsandfertility.com/services/pre-implantation-genetic-testing/pgs-and-pgd-ivf/ Mon, 23 Dec 2019 09:07:26 +0000 http://dev.geneticsandfertility.com/?page_id=1439

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PGS And PGD IVF

PGS and PGD IVF

Vignette Preimplantation Genetic Diagnosis (PGD)

PGS and PGD IVF is a combination of procedures that apply the latest scientific breakthroughs in order to evaluate the genetics of an embryo before placing the embryo in the womb. We have been performing PGS and PGD IVF since June of 2000. Our first live birth was reported in 2001. Since then, FC & AG of Florida has been at the forefront of PGD/PGS in the Southeastern United States.

 We are happy to announce the continuation of our progress with another first for Florida and the Southeastern United States. We are happy to report our first pregnancies with 24 chromosome microarray technology in October of 2009 and our first pregnancies in 2012 after laser assisted trophectoderm blastocyst biopsies using complete genomic hybridization technology. Fertility Center and Applied Genetics of Florida and Dr. Pabon have one of the broadest experiences in Pre-implantation Genetics in the Southeastern United States.

Background Genetics Information:

The cells of our bodies have genetic information that is mostly in the nucleus of the cell.  In the nucleus there are 23 pairs of chromosomes that carry the genetic information given to us by our genetic mother and father.  We receive one of each pair from our mother’s egg and our father’s sperm. 

 The information in the DNA molecule condensed into the chromosomes in each of our cells.  One important function of our gonads is to duplicate and separate the chromosomes as eggs and sperm are made.  Unfortunately, the duplication process is far from perfect and produces eggs and sperm with an abnormal number of chromosomes quite often. 

 Think of the gonads as a copying machine that must copy 3,000 million DNA letters and then collate them into chromosome data books.  This has to be done thousands of times in the ovary and many billions of times in the testicle.  Errors that occur in nature usually result in a failed conception, a miscarriage, or an abnormal child with an extra chromosome like in Down’s syndrome.  With IVF and PGD technology we can find many mistakes before the embryo is implanted.

The PGD Process:

In order to perform PGD, patients must undergo “in vitro” fertilization.  Eggs are harvested and subsequently fertilized.  PGD requires insemination of single eggs with single sperm in order to avoid having multiple sperm cells from being adherent to the outer shell of the egg after standard insemination procedures.  The fertilization of a single egg with a single sperm cell is achieved with the intracytoplasmic sperm injection procedure (ICSI).  

This is an insemination technique that has been practiced since the early 1990’s very routinely for severe male factor infertility.  ICSI is required for PGD in order to be certain that genetic test results are those of the embryo and not those of a single sperm cell that happened to be picked up as part of the embryo biopsy.

Preimplantation testing for IVF: Intracytoplasmic Sperm Injection (ICSI)
Intracytoplasmic Sperm Injection (ICSI)

The embryo biopsy required for PGD can be performed on multicellular day 3 embryos or blastocysts.  After fertilization, the fertilized egg divides into 2-4 cells the next day.  The following day (day 3 post fertilization) the embryo is usually made up of 6-10 cells.  A small opening is made in the outer sugar coating (zona pellucida) of the embryo with either an acid solution or a laser.

  Then one or two cells is aspirated or teased out, collected, packaged, and sent to the reference laboratory for testing.

preimplantation testing for IVF

Day 3 biopsies are still performed in special situations.  Day 3 biopsies have been largely replaced by day 5 and 6 blastocyst trophectoderm biopsies.  This is due to the higher reliability of the results when the trophectoderm is tested as compared to only one or two cells from a day 3 embryo.

Copyright photo from Julio E. Pabon, M.D. collection

In the above photo the inner cell mass is the group of cells between one and three o’clock.  The trophectoderm cells are all the smaller surrounding cells best seen from six to nine o’clock.  Sperm cells are visibly attached to the zona pellucia at seven and nine o’clock.  Therefore, this blastocyst was the result of a non-ICSI “standard” insemination procedure six days earlier.

The trophectoderm of the embryo is the part of the embryo that is destined to become the placenta.  The genetic testing of the trophectoderm cells matches the genetics of the part of the embryo (the inner cell mass) that becomes the fetus and subsequently the baby with a higher accuracy than the biopsies on the third day of embryo growth.  It is estimated that the genetic evaluation of the trophectoderm agrees with the inner cell mass with greater than 98% accuracy.  

That being said, patients must understand that there can be no absolute guarantee of 100% accuracy in medicine and genetics.  The trophectoderm biopsy of a day 5 or 6 blastocyst begins with the laser assisted hatching of the outer sugar coating (the zona pellucida).  This small opening is usually made with the microscopic laser on the third or fourth day of culture.  The embryo is replaced in the incubator and two days later they checked for signs of herniation of the trophectoderm.  When the trophectoderm is “peeking” out, the microscopic laser is used to dissect a few cells.  These cells are packaged and sent to the reference laboratory for the desired genetic test.

photo multicellular day 3 embryo
The picture above shows a multicellular day 3 embryo demonstrating a laser assisted incision at the seven o’clock position.
Preimplantation Testing for IVF: A blastocyst (day 5 or 6 embryo) showing the herniating trophectoderm ready for biopsy.
A blastocyst (day 5 or 6 embryo) showing the herniating trophectoderm ready for biopsy.

The cells obtained are processed by our reference laboratories.  In the first years of the PGD program, these cells were processed for analysis using fluorescent in situ hybridization techniques FISH.  We and many other laboratories have gradually moved to complete genomic hybridization techniques that evaluate all 24 human chromosomes.  Patients must understand that even the latest complete genomic hybridization techniques are not infallible.  Limitations of the technology include and may not be limited to the following:

The cells obtained may not yield a “reading” or result.

The cells sampled cannot be assumed to represent the genetics of the baby 100% of the time.

Even a “normal” reading does not guarantee a “normal” baby.

A “normal” reading should be interpreted as “normal within the limits of the test” and the fact that only a few cells were tested and not the whole embryo.

If a patient is scheduled for day 5 or 6 blastocyst biopsies, the biopsies can only be performed if the patient’s embryos reach the blastocyst stage.  There may be some patients that do not have any blastocysts for biopsy.  Similarly, those that plan day 3 biopsies may not have any embryos reach the required 5 or more cells for biopsy.

Patients that plan a fresh embryo transfer may only have available for transfer those normal embryos that are biopsied on the third or fifth day.  Embryos that reach the blastocyst stage on the sixth day will have to be frozen.

Patients that choose the “all freeze” protocol must understand that there can be no absolute guarantee of the survival or recovery of frozen embryos.

There is a very rare risk of damage to an embryo during these procedures.

Not all genetic defects are detectable using this technology of PGD.

Testing for single gene mutations involves different technology that is not ordered or performed unless it has been determined that the patient has a very high risk (25-50%) of conceiving a baby with one of these diseases.  Standard PGD focuses on confirming that the embryo most likely has two pairs of each of the 23 chromosomes.

Standard PGD counts chromosomes in the smallest unit of life, one cell. The test does not examine tiny micro-events that occur along the inside of the DNA of these chromosomes.  That type of testing is many times more expensive and is usually reserved for a different field of medicine (pediatrics or peri-natology).

Even though these processes are very accurate, there is no absolute 100% guarantee of either a normal child or the gender of that child.

Signing this document gives Dr. Pabon, the embryologists, and/or designated assistants permission to discard genetically abnormal embryos.

The above described procedures are optional and have been recommended in order to try to improve our chances of achieving a normal pregnancy with IVF.

PGD that screens for chromosome number problems (aneuploidy) in embryos or specialized screening for a specific disease in an embryo does not eliminate the need for routine pregnancy screening with prenatal tests like chorionic villus sampling, amniocentesis, or some of the newer maternal blood screens that can screen fetal cells in maternal circulation for genetic abnormalities.

A Bit More Biology Background Information

Chromosomes are structures found in the center or nucleus of cells.  A human has 46 chromosomes (23 pairs).  Each of us received 23 chromosomes from our mother and 23 chromosomes from our father.  Chromosomes are made of very long strands of DNA.  Regions of the DNA strands in chromosomes are organized into definite coding regions called genes.  Particular genes contain the code for particular protein molecules that direct or carry out all the millions of functions of our bodies.  

Having an extra portion of a chromosome or a missing portion of a chromosome is called aneuploidy.  This can result in failure of implantation of the embryo, pregnancy loss, and other conditions such as infertility and congenital abnormalities such as Down’s syndrome (Down’s syndrome results when the embryo and subsequent child has extra genetic information in the form of an extra chromosome 21.

A normal blood chromosome analysis

Female Karyotype - 46 , XX Chart

Table of aneuploidy risk as related to maternal age

Trisomy 21 Karyotype chart - 47, XY, +21

Mosaic embryos are less of a problem with Blastocyst BiopsiesCurrently, most clinics still perform embryo biopsies on the third day of embryo culture by sampling one or two cells from an embryo composed of 5 to 10 cells.  Multicellular embryos can be made of different cell types.  Most research has shown that any single embryo has about a 7%-10% chance of being mosaic.  This means that if we sample a cell, that cell may not represent the part of the embryo that will become the fetus and baby.  

This means that the results are not absolute or “guaranteed”.  Nothing is absolute or guaranteed in medicine and genetics.  After performing hundreds of day 3 biopsies since 2001, our clinic has never had an error regarding a diagnosis as it applies to a baby’s PGD/PGS.  Nonetheless, more and more research and information has emerged over the years about the lower risk of false or incorrect results from trophectoderm blastocyst biopsies as compared to the multicellular day 3 embryo biopsies.

  For that reason, our clinic’s PGD/PGD program has moved to the biopsy of the trophectoderm of blastocyst as the primary technique for PGD/PGS.  Even a trophectoderm biopsy cannot guarantee that the results are 100% correct all the time. 

 It is estimated that the results of PGD/PGS with complete genomic hybridization to determine if an embryo has 23 pairs of chromosomes is more than 98% accurate.  The accuracy of the Pre-implantation diagnosis of single gene diseases is unique to each probe and or disease being tested for.  Due to the possible mosaicism in embryos and the limits of the technology, we always advise our patients to have all the standard obstetrical testing without regard for what was tested prior to the pregnancy.

 

Possible Benefits of PGD/PGS

Genetically abnormal (aneuploid) embryos can be indistinguishable in appearance and development from chromosomally normal ones. The PGD/PGS results can guide the selection of embryos for replacement into the mother.  Most chromosomally abnormal embryos either do not implant or spontaneously abort shortly after implantation.  Thus, if only normal embryos are replaced, each embryo will have a higher chance of implanting and reaching term.

  The probability of conceiving a healthy child is increased through PGD/PGS.  PGD/PGS for aneuploidy has been reported to increase implantation rates in several studies, to reduce the rate of pregnancy loss by half and to increase take-home baby rates.

The benefits of PGD/PGS increase when more embryos are available for analysis. If there are fewer than six embryos, there may not be any increase in the pregnancy rate.  Nonetheless, even with few embryos, the information gained from PGD/PGS can assist in the decisions involved in an IVF cycle.Patients with specific chromosomal rearrangements (like translocations) or specific gene or DNA defects can avoid passing this to their offspring through the application of PGD/PGS. The list of known single-gene defects for which we have specific probes grows each week.

Visit our website for a list of some of the conditions that can be tested for with PGD/PGS.

Performing embryo biopsies is not without risk of injury to the embryo.  Thus far, we estimate the risk of damage to any biopsied embryo as less than one percent. Embryos that have been biopsied in our laboratory have developmental rates comparable to age-matched and diagnosis-matched controls. 

 That is, the biopsy process does not appear to hurt embryos in our laboratory.  Nonetheless, patients must realize that the PGD/PGS process involves a micromanipulation that could injure a dividing embryo so that it may subsequently arrest or degenerate.
Even with microarrays, there is no guarantee that results will be available on all the embryos or all the chromosomes.   Microarray technology does not give results regarding every single gene in an embryo.  Early embryonic development is complex. It has been shown that human embryos can develop into an abnormal or disorganized fetus even in the presence of a completely normal complement of 23 pairs of chromosomes.

  Most of the time, these abnormal pregnancies abort spontaneously. Patients must understand that PGD/PGS may fail in individual cases because of unforeseen technical malfunctions.  It is not possible to guarantee pregnancy after PGD/PGS or even promise that there will be benefits for any individual case.  Additionally, there are rare diseases where the genetic problem lies in places other than the DNA in the chromosomes in the nucleus of the cell.  These are the inherited mitochondrial inherited diseases for which PGD/PGS technology is not yet available.

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Pre-Implantation Genetic Testing https://geneticsandfertility.com/services/pre-implantation-genetic-testing/ Sun, 22 Dec 2019 11:56:20 +0000 http://dev.geneticsandfertility.com/?page_id=1315

Related posts:

  1. Frequently Asked Questions & Answers
  2. PGS And PGD IVF
  3. Sperm Testing
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Pre-Implanation Genetic Testing

What is PGT?

PGT is Pre-implantation genetic testing. PGT is umbrella term for both Pre-implantation Genetic Screening (PGS) or Diagnostic (PGD).

The term Pre-implantation Genetic Screening (PGS) refers to the set of techniques for testing whether embryos (obtained through IVF/ICSI) have abnormal chromosomes’ number. In other words, it tests if embryo is aneuploid or not. PGS is also called aneuploidy screening.

How does Pre-implantation Genetic Screening work?

Pre-implantationGeneticScreening(PGS) can detect the presence and copynumber of every chromosome: numbers 1-22 plus X and Y. It works by detecting short stretches of DNA along the length of every chromosome. A typical screening test uses thousands of these DNA markers. The DNA sequences that are used for screening are like molecular bar codes.

 

Can PGS be performed at the same time as PGD?

Yes. Embryos can be screened for chromosomal abnormalities that occur as a result of aging in addition to heritable genetic diseases or specific heritable chromosomal disorders

What is PGD?

PGD is Preimplantation Genetic Diagnosis – the process that helps potential parents prevent the birth of a child with a serious genetic condition. This serves to prevent certain genetic diseases or disorders from being passed on to the child.

Pre-implantation genetic diagnosis is the genetic profiling of embryos prior to implantation, and sometimes even of oocytes prior to fertilization. PGD is considered in a similar fashion to prenatal diagnosis. When used to screen for a specific genetic disease, its main advantage is that it avoids selective abortion, as the method makes it highly likely that the baby will be free of the disease under consideration.

PGD is an adjunct to assisted reproductive technology, and requires in vitro fertilization to obtain oocytes or embryos for evaluation. Embryos are generally obtained through blastomere or blastocyst biopsy. The latter technique has proved to be less deleterious for the embryo, therefore it is advisable to perform the biopsy around day 5 or 6 of development.

Is Preimplantation Genetic Diagnosis (PGD) safe?

Thousands of clinical preimplantation genetic diagnosis cycles have been performed worldwide, resulting in the birth of hundreds of healthy babies. PGD was introduced in 1990 and has been increasing used since that time. The procedure does not appear to affect the development of the embryo and subsequent pregnancy or the child once it is born. However, more follow up studies of children born after PGD are needed.

How does Pre-implantation Genetic Testing works?

Pre-implantation Genetic Testing (PGT) enables the selection of healthy embryos during IVF treatments.

PGD is performed as part of the IVF process. For all couples the following steps will be performed:

  • Female partner takes medications to stimulate the ovaries to make multiple eggs grow
  • Eggs are retrieved with a trans-vaginal needle in an office procedure
  • Eggs are fertilized by sperm using a process called ICSI
  • Embryos develop in the embryology laboratory over the course of 5-6 days

On day 5 or 6 of development, when embryos have reached the blastocyst stage, a few cells that would eventually become placental cells are removed from the outer layer of the embryo (this is called a trophectoderm biopsy). The cells are then sent to a special laboratory that will test for the specific abnormality in question using the most advanced techniques.The embryos are frozen immediately, using vitrification.

When the results are returned, normal embryos can be thawed and placed back in the uterus in a subsequent frozen embryo cycle. Of the embryo(s) that are not affected by the genetic disorder or chromosomal abnormality, the best quality embryo(s) are selected for transfer to the uterus. If additional unaffected and good-quality embryos are available, they may remain cryopreserved for a future embryo transfer.

Do you perform PGT (PGS & PGD)?

Yes, we perform pre-implantation genetic testing all the time for our patients  because it can increase the chances of conceiving a healthy child.

We have been performing PGS and PGD IVF since June of 2000. Our first live birth was reported in 2001.

Our clinic and Dr. Pabon have one of the broadest experiences in Pre-implantation Genetics in the Southeastern United States.

 

Can I Have PGT (PGS & PGD) done in Tampa?

It’s a frequent question, so we included it here.

Any kind of Genetic Testing is done in the Clinic environment and a lab because it’s a complicated multi-step process. You can read about it on the next page.

You can get to our Clinic from Tampa proper in less than an hour, usually the traffic from Tampa on I-75 (East shore of Tampa Bay) is light.

We have patients from Tampa, North Tampa and Riverview on regular basis. They say they were attracted by our warm personal approach of a private practice and did not mind the drive.

Here’s the map with driving directions from Tampa to our Clinic:

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