Efficiency of expanded noninvasive prenatal testing in the detection of fetal subchromosomal microdeletion and microduplication in a cohort of 31,256 single …

H Xue, A Yu, M Lin, X Chen, Q Guo, L Xu, H Huang - Scientific Reports, 2022 - nature.com
Noninvasive prenatal testing (NIPT) is widely used to screen for common fetal chromosomal
aneuploidies. However, the ability of NIPT-Plus to detect copy number variation (CNV) is …

Expanding the scope of non-invasive prenatal testing to detect fetal chromosomal copy number variations

S Chen, L Zhang, J Gao, S Li, C Chang… - Frontiers in molecular …, 2021 - frontiersin.org
Non-invasive prenatal testing (NIPT) for common fetal trisomies is effective. However, the
usefulness of cell-free DNA testing to detect other chromosomal abnormalities is poorly …

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 8141 single pregnancies

H Hu, L Wang, J Wu, P Zhou, J Fu, J Sun, W Cai, H Liu… - Human genomics, 2019 - Springer
Background Noninvasive prenatal testing (NIPT) for fetal aneuploidies by scanning cell-free
fetal DNA in maternal plasma is rapidly becoming a first-tier aneuploidy screening test in …

Expanding the application of non-invasive prenatal testing in the detection of foetal chromosomal copy number variations

C Wang, J Tang, K Tong, D Huang, H Tu, Q Li… - BMC Medical …, 2021 - Springer
Purpose The aim of this study was to assess the detection efficiency and clinical application
value of non-invasive prenatal testing (NIPT) for foetal copy number variants (CNVs) in …

Efficiency of noninvasive prenatal testing for the detection of fetal microdeletions and microduplications in autosomal chromosomes

Y Pei, L Hu, J Liu, L Wen, X Luo, J Lu… - Molecular genetics & …, 2020 - Wiley Online Library
Background Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal
genetic abnormalities. However, the ability of NIPT to detect copy number variations (CNVs) …

Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low‐pass whole‐genome sequencing

D Yu, K Zhang, M Han, W Pan, Y Chen… - Molecular genetics & …, 2019 - Wiley Online Library
Background Expanding noninvasive prenatal testing (NIPT) to include the detection of fetal
subchromosomal copy number variations (CNVs) significantly decreased the sensitivity and …

Identification of copy number variants by NGS-based NIPT at low sequencing depth

X Ye, S Lin, X Song, M Tan, J Li, J Wang, H Yan… - European Journal of …, 2021 - Elsevier
Objective To explore the clinical utility of detecting chromosome copy number variants
(CNVs) in the fetus by noninvasive prenatal testing (NIPT) using the low-pass whole …

Limited ability of increased sequencing depth in detecting cases missed by noninvasive prenatal testing: a comparative analysis of 3 clinical cases

Y Lu, N Zuo, M Ning, Y Xie, W Liu, S Ning, Y Liang… - Scientific Reports, 2024 - nature.com
Increased sequencing depth can improve the detection rate of noninvasive prenatal testing
(NIPT) for chromosome aneuploidies and copy number variations (CNVs). However, due to …

Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with …

Y Chen, Q Yu, X Mao, W Lei, M He, W Lu - Human Genomics, 2019 - Springer
Background Since the discovery of cell-free DNA (cfDNA) in maternal plasma, it has opened
up new approaches for non-invasive prenatal testing. With the development of whole …

Clinical value for the detection of fetal chromosomal deletions/duplications by noninvasive prenatal testing in clinical practice

L Gou, F Suo, Y Wang, N Wang, Q Wu… - … Genetics & Genomic …, 2021 - Wiley Online Library
Objective This study was to report the experiences on the clinical value of noninvasive
prenatal testing (NIPT) for the screening of fetal chromosomal deletions/duplications …