Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.

  title={Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes.},
  author={Ronald J. Wapner and Joshua Babiarz and Brynn Levy and Melissa Stosic and Bernhard G. Zimmermann and Styrmir Sigurjonsson and Nicholas Wayham and Allison Ryan and Milena Banjevic and Phil Lacroute and Jing Jie Hu and Megan P. Hall and Zachary P. Demko and Asim Siddiqui and Matthew Rabinowitz and Susan J. Gross and Matthew Hill and Peter Benn},
  journal={American journal of obstetrics and gynecology},
  volume={212 3},
OBJECTIVE The purpose of this study was to estimate the performance of a single-nucleotide polymorphism (SNP)-based noninvasive prenatal test for 5 microdeletion syndromes. STUDY DESIGN 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… CONTINUE READING
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