Pre-implantation Genetic Diagnosis (PGD)

Pre-implantation Genetic Diagnosis (PGD) is an evolving program that holds the promise of reducing the incidence of genetic diseases. This program combines expert technology and IVF experience with access to advanced genetic testing and counseling. PGD is a medical testing option that can be used during in vitro fertilization (IVF) procedures to test embryos for genetic disorders prior to their transfer to the woman's uterus. First introduced over a decade ago, PGD can make it possible for couples or individuals with serious inherited disorders to significantly decrease the risk of having a child who is affected by the same disorder.

PGD is most commonly performed in four different situations, depending on the couple's or individual's needs:

1. Genetic disorders - for couples aware of genetic disorders through family history or based on carrier testing, PGD testing can be performed to help avoid a pregnancy or child born with the specific genetic condition.
2. Advanced maternal age - chromosomal abnormalities due to advancing maternal age are more likely to occur in women over the age of 35, leading to problems like Down Syndrome or early miscarriage. PGD testing can determine the number and character of the chromosomes and determine which embryos are the most likely to result in a healthy, ongoing pregnancy.
3. Recurrent miscarriages - balanced translocation or rearrangement of chromosomes can lead to recurrent miscarriages. PGD testing can determine which eggs and/or embryos are the most likely to result in a healthy pregnancy, screening out the chromosomes that have joined up incorrectly.
4. Male factor infertility - in some cases of severe male factor infertility, a high rate of chromosomal abnormality has been seen in embryos that result from men with azoospermia. Azoospermia is when no sperm is present in the ejaculate. PGD testing can prevent implanting chromosomally abnormal embryos.

Why is PGD important?

To date, over 40 life-threatening and debilitating genetic diseases may be screened before embryonic implantation. PGD also changes reproductive options for families at risk. Parents who have previously given birth to a child with Cystic Fibrosis or Tay-Sachs, for example, now have the option to genetically screen their embryos before pregnancy. Those embryos that tests indicate do not possess the disease-causing genes will be transferred. Most chromosomally abnormal embryos either do not implant or spontaneously abort shortly after implantation. The use of PGD allows that abnormal embryos are not transferred back into the woman's uterus, providing a much better chance of achieving a full-term pregnancy with chromosomally healthy embryos.

The role of IVF

In Vitro Fertilization (IVF) therapy is used as part of the PGD Program to first create the embryos for PGD testing and then to enable the healthy ones to be transferred back into the uterus.

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