title: Down syndrome screening in twins.
abstract: Available methods for screening for Down syndrome (DS) in twin gestations include maternal age, first-trimester nuchal translucency, first-trimester combined screening, second-trimester genetic sonography, second-trimester quad screening, and combinations of tests across different gestational ages. Biochemical screening is generally associated with detection rates at least 15% less than in singleton pregnancies. Nuchal translucency measurement may help close that gap, but the best available data (based on modeling) show approximately 75% to 85% detection rates for DS, with a 5% false-positive rate. Patients accepting screening should be aware of all options should a diagnosis of fetal aneuploidy be confirmed, including pregnancy continuation, termination of the entire pregnancy, and selective termination of an aneuploid fetus.
authors.affiliation: Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of California, Irvine, 101 The City Drive, Orange, CA 92868, USA. melissacbush@hotmail.com
authors.forename: Melissa C
authors.initials: MC
authors.lastname: Bush
authors.forename: Fergal D
authors.initials: FD
authors.lastname: Malone
mesh_terms: D002986:Clinical Trials as Topic; D004200:Diseases in Twins / Q000175:diagnosis*; D004314:Down Syndrome / Q000175:diagnosis*; D005260:Female; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D016216:Ultrasonography, Prenatal