|January 2009 · Vol. 21, No. 01
Here are recommendations, and cautions, when you are considering a patient’s request for preimplantation genetic diagnosis or screening
PGD has been extended to women who possess a gene mutation placing them at higher risk of cancer, and who don’t want to transmit that gene to offspring
PGS does not increase the rate of pregnancy. In fact, it significantly reduces the rate of pregnancy among women of advanced maternal age
We’ve learned that embryos have the potential to self-correct early mosaicism. With PGS, therefore, random biopsy solely of an abnormal cell would relegate a potentially euploid embryo to nontransfer
Embryos that are of poor quality before biopsy—such as those found in women of advanced maternal age—may be more susceptible to the effects of biopsy
A 2008 literature review concludes that:
1) the indications for preimplantation genetic screening are, at this time, undefined and
2) PGS should therefore be considered experimental
Dr. Wilkins-Haug is Division Director, Maternal–Fetal Medicine and Reproductive Genetics, Brigham and Women’s Hospital, and Associate Professor, Department of Obstetrics, Gynecology and Reproductive Biology, Harvard Medical School, Boston.
The author reports no financial relationships relevant to this article.
Population-based screening for carriers of genetic diseases and advances in neonatal and pediatric genetic testing have resulted in more and more couples identified as at-risk for inherited disorders. Increasingly, women in these couples ask their ObGyn about their options for future pregnancies.