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The Use of Nuchal Translucency in Contemporary Obstetric Practice

SAID, SOHA MRCOG, MRCPI; MALONE, FERGAL D. MD

Clinical Obstetrics & Gynecology: March 2008 - Volume 51 - Issue 1 - pp 37-47
doi: 10.1097/GRF.0b013e318160f2ea
Current Concepts in Prenatal Genetics

Nuchal translucency sonography is the most powerful single prenatal marker for Down syndrome. Its detection rate is 75% at a 5% false-positive rate. The combination of nuchal translucency and maternal serum-free β-human chorionic gonadotropin and pregnancy-associated plasma protein-A can identify 85% to 90% of fetuses with Down syndrome for a false-positive rate of 5%. This method can also identify more than 90% of fetuses with trisomies 18 and 13, Turner syndrome, and triploidy for a screen-positive rate of 1%.

Department of Obstetrics and Gynecology, Royal College of Surgeons in Ireland (RCSI), Rotunda Hospital, Parnell Square, Dublin 1, Republic of Ireland

Correspondence: Prof Fergal D. Malone, MD, Department of Obstetrics and Gynecology, Royal College of Surgeons in Ireland (RCSI), Rotunda Hospital, Parnell Square, Dublin 1, Republic of Ireland. E-mail: fmalone@rcsi.ie

© 2008 Lippincott Williams & Wilkins, Inc.