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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