Journal of Clinical Trials
Open Access
ISSN: 2167-0870
ISSN: 2167-0870
Department of Maternal and Child Health, Gansu Province Maternal and Child Health Care Hospital, Lanzhou, China
Research Article
Expanded Noninvasive Prenatal Testing for Chromosomal Aneuploidies and Copy Number Variants in a Cohort of 16128 Single Pregnancies
Author(s): Xing Wang, Qing-hua Zhang, Lei Zheng, Peng-Wu Lin, Jing He, Xuan Feng and Sheng-ju Hao*
Background: Noninvasive Prenatal Testing (NIPT) is based on second-generation genomic sequencing technology to
scan cell-free fetal DNA originating from the placenta in maternal plasma. As the depth of sequencing increases, it
can be used to focus on chromosomal aneuploidies, Copy Number Variants (CNVs), and monogenic diseases. It can
significantly improve the accuracy of prenatal screening and reduces the number of invasive testing.
Methods: In this study, we retrospectively analyzed 16128 naturally conceived singleton pregnancies, which underwent
expanded NIPT to calculate the True Positive Rate (TPR) of chromosomal aneuploidies and CNVs, and analyzed the
potential influence of maternal Sex Chromosome Abnormalities (SCAs) and maternal CNVs on expanded NIPT
results.
Results: After invasive prenatal d.. View More»
DOI:
10.35248/2167-0870.21.11.479