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Aneuploidy screening in the first trimester
Author(s) -
Spencer Kevin
Publication year - 2007
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30119
Subject(s) - trisomy , aneuploidy , obstetrics , first trimester , down syndrome , gestation , nuchal translucency , second trimester , gynecology , pregnancy , medicine , fetus , nuchal translucency measurement , pregnancy associated plasma protein a , biology , genetics , chromosome , gene
This article reviews the performance of first trimester screening for chromosomal anomalies using various combinations of ultrasound and maternal serum biochemical modalities. Detection rates in excess of 90% can be routinely achieved for Trisomy 21, Trisomy 13, Trisomy 18 using a combination of fetal nuchal translucency (NT) thickness and maternal serum free ß‐hCG and PAPP‐A at 11 + 0 to 13 + 6 weeks of gestation. © 2007 Wiley‐Liss, Inc.