Non‐invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies

ABSTRACT Objectives To report the clinical performance of massively parallel sequencing‐based non‐invasive prenatal testing (NIPT) in detecting trisomies 21, 18 and 13 in over 140 000 clinical samples and to compare its performance in low‐risk and high‐risk pregnancies. Methods Between 1 January 201...

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Vydáno v:	Ultrasound in obstetrics & gynecology Ročník 45; číslo 5; s. 530 - 538
Hlavní autoři:	Zhang, H., Gao, Y., Jiang, F., Fu, M., Yuan, Y., Guo, Y., Zhu, Z., Lin, M., Liu, Q., Tian, Z., Chen, F., Lau, T. K., Zhao, L., Yi, X., Yin, Y., Wang, W.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	Chichester, UK John Wiley & Sons, Ltd 01.05.2015 Wiley Subscription Services, Inc
Témata:	Adult Cell-Free System cell‐free DNA China - epidemiology Chromosome Disorders - diagnosis Chromosome Disorders - embryology Chromosome Disorders - genetics Chromosomes, Human, Pair 13 - genetics Chromosomes, Human, Pair 18 - genetics clinical performance CNV DNA - genetics DNA Methylation Down Syndrome - diagnosis Down Syndrome - embryology Down Syndrome - genetics false negative false positive Female Follow-Up Studies Genetic Testing - methods Humans Infant, Newborn low‐risk population Maternal Serum Screening Tests mosaicism NIPT Pregnancy Pregnancy Outcome Prenatal Diagnosis Reproducibility of Results trisomy Trisomy - diagnosis Trisomy - genetics Trisomy 13 Syndrome Trisomy 18 Syndrome China false negative clinical performance mosaicism cell-free DNA CNV NIPT low-risk population trisomy false positive
ISSN:	0960-7692, 1469-0705, 1469-0705
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