Chromosome-selective sequencing of maternal plasma cell–free DNA for first-trimester detection of trisomy 21 and trisomy 18

Objective The purpose of this study was to assess the prenatal detection rate of trisomy 21 and 18 and the false-positive rate by chromosome-selective sequencing of maternal plasma cell–free DNA. Study Design Nested case-control study of cell-free DNA was examined in plasma that was obtained at 11-1...

Full description

Saved in:

Bibliographic Details
Published in:	American journal of obstetrics and gynecology 2012-04, Vol.206 (4), p.322.e1-322.e5
Main Authors:	Ashoor, Ghalia, MD, Syngelaki, Argyro, RM, Wagner, Marion, MD, Birdir, Cahit, MD, Nicolaides, Kypros H., MD
Format:	Article
Language:	eng
Subjects:	Adult Biological and medical sciences Case-Control Studies Chromosome aberrations Chromosomes, Human, Pair 18 - genetics DNA - blood DNA Mutational Analysis Down Syndrome - blood Down Syndrome - diagnosis False Positive Reactions Female first trimester Gynecology. Andrology. Obstetrics Humans Medical genetics Medical sciences Obstetrics and Gynecology Pregnancy Pregnancy Trimester, First Risk Sensitivity and Specificity Trisomy - diagnosis trisomy 18 trisomy 21
Online Access:	Get full text
Tags:	Add Tag No Tags, Be the first to tag this record!

Description
Summary:	Objective The purpose of this study was to assess the prenatal detection rate of trisomy 21 and 18 and the false-positive rate by chromosome-selective sequencing of maternal plasma cell–free DNA. Study Design Nested case-control study of cell-free DNA was examined in plasma that was obtained at 11-13 weeks before chorionic villous sampling from 300 euploid pregnancies, 50 pregnancies with trisomy 21, and 50 pregnancies with trisomy 18. Laboratory personnel were blinded to fetal karyotype. Results Risk scores for trisomy 21 and 18 were given for 397 of the 400 samples that were analyzed. In all 50 cases of trisomy 21, the risk score for trisomy 21 was ≥99%, and the risk score for trisomy 18 was ≤0.01%. In all 50 cases of trisomy 18, the risk score for trisomy 21 was ≤0.01%, and the risk score for trisomy 18 was ≥99% in 47 cases, 98.8% in 1 case, 88.5% in 1 case, and 0.11% in 1 case. In 3 of the 300 euploid pregnancies (1%), no risk score was provided, because there was failed amplification and sequencing. In the remaining 297 cases, the risk score for trisomy 21 was ≤0.01%, and the risk score for trisomy 18 was ≤0.01% in 295 cases, 0.04% in 1 case, and 0.23% in 1 case. Therefore, the sensitivity for detecting trisomy 21 was 100% (50/50 cases); the sensitivity for trisomy 18 was 98% (49/50 cases), and the specificity was 100% (297/297 cases). Conclusion In this study, chromosome-selective sequencing of cell-free DNA separated all cases of trisomy 21 and 98% of trisomy 18 from euploid pregnancies.
ISSN:	0002-9378 1097-6868