2018 Demystifying Medicine: Prenatal Genomics and Fetal Gene Therapy

2018 Demystifying Medicine: Prenatal Genomics and Fetal Gene Therapy

Air date: Tuesday, April 24, 2018, 4:00:00 PM

Category: Demystifying Medicine

Runtime: 01:22:15

Description: Demystifying Medicine

Technologies to not merely detect fetal abnormalities but to treat them in utero at the earliest stages of human development have merged and are poised to improve pregnancy outcomes and the long-term health and wellbeing of the baby.

Two leaders in this challenging new field — NICHD Director Diana Bianchi, M.D., and NICHD Senior Investigator Alan Decherney, M.D. — discuss the remarkable advances in recent years, such as understanding fetal and placental biology through sequence analysis of nucleic acids that circulate within the pregnant woman's blood, collected noninvasively. Although such advances hold great promise, they are coupled with thorny ethical issues concerning the efficacy of treatment and proper safeguarding of data.

Widely used methods to detect fetal abnormalities include imaging and placental biopsies. Noninvasive prenatal DNA testing is now in the vanguard of genomic medicine and has revolutionized prenatal care globally and has created new opportunities for personalized medicine for the fetus. The technique is based on detection of prenatal DNA in cells isolate from the mother’s circulation during pregnancy. There is need for pretest education for all pregnant women and consistent post-test management recommendations for those with discordant results. Prenatal DNA testing has had profound effects on diagnosis and management of fetal abnormalities. However, the accumulating datasets of genomic information on pregnant women and their fetuses raises ethical issues concerning data-mining and intellectual property.

For more information go to https://demystifyingmedicine.od.nih.gov

Author: Diana Bianchi, MD, NICHD, NIH and Alan De Cherney, MD, NICHD, NIH

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