title: First-trimester sonographic screening for Down syndrome.
abstract: Screening for Down syndrome is an important part of routine antenatal care. The most common screening method in the United States involves the assessment of a combination of factors: maternal age, multiple second-trimester serum markers, and second-trimester ultrasonography (as a so-called "genetic sonogram"). More recently, however, there has been significant interest in first-trimester methods of screening, including screening for first-trimester serum markers and the sonographic measurement of fetal nuchal translucency. Multiple studies have demonstrated that fetal nuchal translucency has the potential of being a very powerful predictor of fetal aneuploidy. However, for clinicians a large void remains between this knowledge and the practical issues that must be addressed prior to endorsing this form of screening for widespread use. This article provides an objective assessment of the literature describing nuchal translucency, as well as some adjunct first-trimester sonographic techniques, such as ductus venosus flow and nasal bone studies. Additionally, a detailed description of practical problems that might limit the implementation of this form of screening is presented.
authors.affiliation: Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, Columbia Presbyterian Medical Center, New York, New York 10032, USA. fdm9@columbia.edu
authors.forename: Fergal D
authors.initials: FD
authors.lastname: Malone
authors.forename: Mary E
authors.initials: ME
authors.lastname: D'Alton
mesh_terms: D004314:Down Syndrome / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D009295:Nasal Bone / Q000000981:diagnostic imaging / Q000196:embryology; D009333:Neck / Q000000981:diagnostic imaging / Q000196:embryology; D011237:Predictive Value of Tests; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D016216:Ultrasonography, Prenatal / Q000592:standards