Preimplantation Genetic Diagnosis (PGD) Services at Penn Fertility Care

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Preimplantation Genetic Diagnosis (PGD) can be used to determine whether embryos produced through in vitro fertilization carry a gene mutation associated with a specific inherited disorder (such as cystic fibrosis, muscular dystrophy, etc). Unaffected embryos are selected for transfer to the uterus.

Anuja Dokras, MD, PhD, medical director, for Penn Fertility Care’sIn Vitro Fertilization Program states, “PGD greatly reduces the risk that a couple will pass the disease onto their child. Thousands of clinical PGD cycles have been performed worldwide, resulting in the birth of hundreds of healthy babies.”

Reasons for Considering PGD

PGD can be beneficial to couples who have a high risk of having a child with a severe genetic disorder. They may choose PGD for many reasons, including:

  • Loss of a child from the disease.

  • Fetus from a previous pregnancy affected by genetic disorder.

  • Relative with the disease.

  • Objection to termination of a future pregnancy affected by genetic condition.

PGD can also be used to determine if embryos have chromosomal disorders, such as unbalanced translocations or aneuploidy.

Chromosomal abnormalities can prevent embryo implantation, lead to pregnancy loss or result in the birth of a child with congenital malformations and/or mental retardation.

Specific to chromosomal issues, this technique is offered primarily to couples when one partner has a balanced translocation or other chromosome abnormality.

In these situations, PGD reduces the risk of achieving a pregnancy that will miscarry due to chromosome abnormalities or from having chromosomally abnormal offspring.

Dr. Dokras adds, “Genetic counseling is an important step for patients to take to ensure that PGD is the right option for them. In addition, PGD does not replace prenatal testing, such as chorionic villus sampling or amniocentesis. The technique provides diagnostic information based on the analysis of a single cell. Therefore, prenatal testing is still recommended, as this is currently the standard-of-care.”

To learn more about preimplantation genetic diagnosis or to refer a patient, please contact Penn Fertility Care at 800-789-7366 (PENN).

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