NIPT became available in 2011 and has gained traction because of its accuracy for detecting a high risk of Down syndrome and because it can also determine the baby’s sex. Prenatal screening and diagnosis have existed in some form since the development of the ultrasound in the 1950s, but has become more advanced in the last decade. “How it would influence their care.” Informed decisions “If the pretest counseling occurs, gives the prospective parents an opportunity to think about what they want to know ahead of time,” Bianchi says. Bianchi, MD, a geneticist, researcher, and director of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, who has received international recognition for her contributions to prenatal diagnosis and therapies. Still, the screening can provide important clinical information, provided it is given along with thorough, accurate, and non-directive counseling, says Diana W. In its guidelines, “cell-free DNA testing is not equivalent to diagnostic testing,” is written in bold type. It’s a fact that the American College of Obstetricians and Gynecologists (ACOG) emphasizes should be clearly communicated when counseling a pregnant person about the screening results. On the other hand, for several extremely rare conditions, the NIPT results produce more false positives than true positives, as the New York Times reported in January. “There’s no guarantee of a healthy baby.” “It is an extremely accurate test for a couple of conditions, but pregnancy can be affected by hundreds of genetic conditions,” Norton says. “The biggest problem that I see is that patients and their providers lack a complete understanding of the limitations of the test.”įor one, the screening is currently only reliably available for a handful of conditions. “The test itself is very good,” Norton says. The screening, which is done by analyzing the pregnant person’s blood to look for the more common chromosomal abnormalities, can detect if a baby is at higher risk for trisomy 21 (also known as Down syndrome), trisomy 18 (Edwards syndrome), and trisomy 13 (Patau syndrome), and can also screen for several rare disorders, as early as 10 weeks of pregnancy.īut Norton, who is a professor and division chief of obstetrics, gynecology, and reproductive sciences, and chief of maternal-fetal medicine at the University of California, San Francisco School of Medicine, points out that the screening results for some patients may lead to unnecessary anxiety or false reassurance. Mary Norton, MD, advises her pregnant patients to think carefully about whether they want to have prenatal cell-free DNA screening, also commonly known as noninvasive prenatal testing (NIPT).
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |