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Home › Articles › Trouble Getting Pregnant › Pre-implantation Genetic Diagnosis

Pre-implantation Genetic Diagnosis

Ensuring Your Baby's Health

By Gwen Morrison

Pages:  1  2  3  

Recent technical advances in molecular genetics now enable in-vitro fertilization (IVF) physicians to detect some inherited genetic and chromosomal defects from a single cell of an embryo.

"Pre-implantation genetic diagnosis, referred to as PGD, is a process by which embryos can be tested for chromosomal abnormalities through an embryo biopsy," says Dr. Eric Scott Sills, FACOG, FACS, director of the Division of Reproductive Endocrinology & Infertility at Atlanta Medical Center. "This procedure allows the selection and transfer of only the 'normal' embryos, resulting in a higher implantation rate."

When is PGD Considered?
Couples who choose to have PGD undergo an IVF cycle where embryos are created from the woman's eggs and the man's sperm. Genetic testing is done prior to re-placing the embryos into the woman's uterus

According to the UCSF Fertility Group in San Francisco, Calif., PGD evaluates known carriers of specific single-gene defects, such as cystic fibrosis, and parents whose offspring are at increased risk for selected chromosomal abnormalities such as Down syndrome, Turner syndrome and certain unbalanced translocations.

Dr. Sills explains that the traditional method of detecting genetic diseases in utero is by amniocentesis or Chorionic villa sampling (CVS). PGD is fast becoming a popular option for couples who are faced with an increased risk of passing on a genetic disease to their babies.

"Couples are given the option of transferring only healthy embryos and are not faced with the decision of whether or not to terminate a pregnancy once prenatal tests reveal a genetic deformity," says Dr. Sills.

PGD is not appropriate for all couples undergoing fertility treatment, says Dr. Sills. "As the risk of conceiving chromosomally abnormal offspring increases with age, the test is typically only done on women age 38 or older," he says. "Other indications for PGD include recurrent pregnancy loss, repeated IVF failure, history of infertility, carrying of autosomal dominant diseases or risk of inheriting a life-threatening disease."


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