Recent advances in maternal serum screening for Down syndrome.
For the past 15 years, addition of serum markers to screening for Down syndrome has enhanced the ability to identify affected pregnancies. During the 1990s, incremental improvements in screening have been tested and implemented, first with the addition of a fourth biochemical marker, inhibin A, to second trimester screening protocols, and second with the development of combined first trimester serum and ultrasound screening. With the new century, we are on the verge of a major breakthrough in the performance of prenatal screening for Down syndrome, with the opportunity to spare almost all pregnant women the risk of amniocentesis and CVS, yet attain levels of detection approaching 90%.
Messerlian
Geralyn M
GM
Division of Prenatal and Special Testing, Department of Pathology and Laboratory Medicine, Women & Infants' Hospital, Providence, RI 02903, USA. GMesserl@wihri.org
Canick
Jacob A
JA
D015415:Biomarkers / Q000097:blood*; D002887:Chromosomes, Human, Pair 18; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D011296:Prenatal Diagnosis / Q000379:methods*; D019082:Smith-Lemli-Opitz Syndrome / Q000175:diagnosis; D014314:Trisomy / Q000175:diagnosis
D015415:Biomarkers