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What is PGD?
Pre Implantation Genetic Diagnosis (PGD) is performed in combination with in vitro fertilization (IVF). PGD offers a way to test patient's 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 onto their child. PGD also can be used to prevent abnormal pregnancies and offer explanations for recurrent miscarriages or implantation failures.
In 2002, Abington Reproductive Medicine was the first fertility center in the Philadelphia, Pennsylvania, area to offer this 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? |
- Under a microscope, a three-day-old, eight-cell embryo created through IVF is held in place with a pipette while making a hole in the wall of the embryo shell.
- A biopsy pipette is inserted into the embryo, and gentle suction is used to dislodge one or two blastomeres (single cells).
- The genetic material in the blastomere(s) undergoes a DNA analysis using the Fluorescent In Situ Hybridization (FISH) or Polymerase Chain Reaction (PCR) technique, depending on the type of testing required.
- The unaffected embryos are then placed back in the patient’s uterus.
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| Which genetic diseases can be diagnosed through PGD? |
| Now over 100 diseases can be detected. Below is a partial list of genetic disorders that can be detected through PGD: |
- Cystic fibrosis
- Fragile-X syndrome
- Sickle-cell anemia
- Polycystic kidney disease
- Thalassemia
- Huntington’s disease
- Klinefelter syndrome
- Tay-Sachs disease
- Duchenne dystrophy
- Lesch-Nyhan syndrome
- Retinitis pigmentosa
- X-linked disease mutations (e.g. hemophilia and muscular dystrophy)
- Marfan syndrome
- Turner syndrome
- Hemophilia A
- Kennedy disease
- Treacher Collins syndrome
- Charcot-Marie-Tooth disease
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What are the advantages of the PGD procedure?
There are many advantages of PGD testing, such as fewer malformed babies and 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.
Is genetic counseling available?
Yes. All of our IVF patients meet with Rosanne Keep, our genetics counselor, prior to their first cycle. For those with a family history of a genetic disorder, she provides education and support, coordinates testing and offers follow-up counseling once patients receive their results.
How can I learn more about PGD testing?
For more information about PGD testing, please call our office at 215-887-2010 to schedule an appointment with one of our physicians.
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