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Preimplantation Genetic Diagnosis (PGD)

State-of-the-art Embryo Screening

What is PGD?

FISHPre-implantation genetic diagnosis (PGD) offers a way to test patients’ embryos for genetic disorders before transferring them into the uterus. The procedure is particularly useful for patients with a serious, inherited disorder who wish to avoid passing the disorder to their child. PGD also can be used to prevent abnormal pregnancies and it provides explanations for recurrent miscarriages or implantation failures. PGD is performed in combination with in vitro fertilization (IVF).

In 2002, Abington Reproductive Medicine was the first fertility center in the Philadelphia area to offer this cutting-edge procedure. Today, working with one of the nation’s leading molecular geneticists and our own onsite embryologist, we are able to screen for over 100 genetic disorders.

How is PGD performed?

  1. Under a microscope, a three-day, eight-cell embryo is held in place with a pipette while the embryologist makes a hole in the wall of the embryo shell.
  2. A biopsy pipette is inserted into the embryo, and gentle suction is used to dislodge one or two blastomeres (single cells).
  3. The genetic material in the blastomere(s) undergoes a DNA analysis using the polymerase chain reaction (PCR) technique, depending on the type of testing required.
  4. The unaffected embryos are then transferred to the patient’s uterus.

What are the advantages of the PGD procedure?

There are many advantages to PGD testing, such as fewer babies born with devastating diseases, fewer pregnancy terminations, the option to avoid transmission of genetic diseases, an increased implantation rate after IVF, greater embryo survival rates, reduction in spontaneous abortions and lowered medical costs.

Are there any risks involved with PGD?

Accidental damage to an embryo during the embryo biopsy and the possibility of foreign DNA contamination resulting in faulty results and misdiagnosis are both risks associated with PGD. Concern also has been raised over those wishing to use the procedure for sex selection and family-balancing purposes.

Polymerase Chain Reaction (PCR)

For patients who are fearful of passing inherited, single-gene defects to their children, Abington Reproductive can offer Polymerase Chain Reaction (PCR) as the preferred testing method. PCR can be used to screen for beta thalassemia, Bloom syndrome, cystic fibrosis, familial dysautonomia, Fanconi’s anemia, fragile-X syndrome, Gaucher’s disease, hemophilia A and B, Huntington’s disease, Marfan’s syndrome, polycystic kidney disease, sickle cell anemia and Tay-Sachs disease, among others.

We perform the PCR technique at the Abington IVF and Genetics, Toll Center for Reproductive Sciences at Abington Memorial Hospital. The analysis is completed by Mark Hughes, M.D., at Wayne State University. Results are typically available within 36 hours, and any affected embryos are excluded from the subsequent transfer.

Genetic Testing and Counseling

For patients with a serious, inherited disorder or a history of certain medical conditions, genetic testing is an important consideration. To help patients evaluate their options, we offer onsite genetic counseling for all individuals undergoing IVF.

Working in tandem with the patient’s care team, genetic counselors use their specialized knowledge in medical genetics and counseling to provide patients with education and support, testing coordination and follow-up counseling, if necessary.

We have an on-site genetics counselor who specializes in the fertility field. She works closely with our physicians to ensure the best possible treatment plan.