• Benn, P.
• Siddiqui, A.
• Lacroute, P.
• Sj, Gross
• Wayham, N.
• Sigurjonsson, S.
• Banjevic, M.
• Rabinowitz, Matthew
• Levy, B.
• Hu, J.
• Je, Babiarz
• Ryan, A.
• Stosic, M.
• Demko, Z.
• Hill, M.

Abstract

<h4>Objective</h4>The purpose of this study was to estimate the performance of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test for 5 microdeletion syndromes.<h4>Study design</h4>Four hundred sixty-nine samples (358 plasma samples from pregnant women, 111 artificial plasma mixtures) were amplified with the use of a massively multiplexed polymerase chain reaction, sequenced, and analyzed with the use of the Next-generation Aneuploidy Test Using SNPs algorithm for the presence or absence of deletions of 22q11.2, 1p36, distal 5p, and the Prader-Willi/Angelman region.<h4>Results</h4>Detection rates were 97.8% for a 22q11.2 deletion (45/46) and 100% for Prader-Willi (15/15), Angelman (21/21), 1p36 deletion (1/1), and cri-du-chat syndromes (24/24). False-positive rates were 0.76% for 22q11.2 deletion syndrome (3/397) and 0.24% for cri-du-chat syndrome (1/419). No false positives occurred for Prader-Willi (0/428), Angelman (0/442), or 1p36 deletion syndromes (0/422).<h4>Conclusion</h4>SNP-based noninvasive prenatal microdeletion screening is highly accurate. Because clinically relevant microdeletions and duplications occur in >1% of pregnancies, regardless of maternal age, noninvasive screening for the general pregnant population should be considered.

Topics

• impedance spectroscopy