Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
Volume 145C, Issue 1, Pages 18-32Publisher
WILEY
DOI: 10.1002/ajmg.c.30119
Keywords
trisomy 21; trisomy 18; trisomy 13; nuchal translucency
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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 1, Trisomy 13, Trisomy 18 using a combination of fetal nuchal translucency (NT) thickness and maternal serum free B-hCG and PAPP-A at 11 + 0 to 13 + 6 weeks of gestation. (c) 2007 Wiley-Liss, Inc.
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