[HTML][HTML] Systematic evidence-based review: the application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies

NC Rose, ES Barrie, J Malinowski, GP Jenkins… - Genetics in …, 2022 - Elsevier
Purpose Noninvasive prenatal screening (NIPS) using cell-free DNA has been assimilated
into prenatal care. Prior studies examined clinical validity and technical performance in high …

Antenatal screening for chromosomal abnormalities

KO Kagan, J Sonek, P Kozlowski - Archives of gynecology and obstetrics, 2022 - Springer
Screening for chromosomal disorders, especially for trisomy 21, has undergone a number of
changes in the last 50 years. Today, cell-free DNA analysis (cfDNA) is the gold standard in …

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 …

Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies

J Zhang, Y Wu, S Chen, Q Luo, H **, J Li, X Qin… - Nature Medicine, 2024 - nature.com
Prenatal cell-free DNA (cfDNA) screening uses extracellular fetal DNA circulating in the
peripheral blood of pregnant women to detect prevalent fetal chromosomal anomalies …

Current controversies in prenatal diagnosis: Expanded NIPT that includes conditions other than trisomies 13, 18, and 21 should be offered

L Christiaens, LS Chitty, S Langlois - Prenatal Diagnosis, 2021 - Wiley Online Library
Non‐invasive prenatal testing (NIPT) based on analysis of cell free DNA circulating in the
maternal plasma has been available clinically to screen for chromosomal abnormalities …

Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening

C Xu, J Li, S Chen, X Cai, R **g, X Qin, D Pan, X Zhao… - Cell Discovery, 2022 - nature.com
Current non-invasive prenatal screening (NIPS) analyzes circulating fetal cell-free DNA
(cfDNA) in maternal peripheral blood for selected aneuploidies or microdeletion/duplication …

Performance of a targeted cell‐free DNA prenatal test for 22q11. 2 deletion in a large clinical cohort

E Bevilacqua, JC Jani, R Chaoui… - … in Obstetrics & …, 2021 - Wiley Online Library
ABSTRACT Objective 22q11. 2 deletion is more common than trisomies 18 and 13
combined, yet no routine approach to prenatal screening for this microdeletion has been …

Non‐invasive cell‐free fetal DNA testing for aneuploidy: multicenter study of 31 515 singleton pregnancies in southeastern China

L Xu, H Huang, N Lin, Y Wang, D He… - … in Obstetrics & …, 2020 - Wiley Online Library
Objective To analyze the non‐invasive prenatal testing (NIPT) for aneuploidy results of 31
515 singleton pregnancies in Fujian province, southeastern China, and assess its …

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 …

Noninvasive prenatal diagnosis targeting fetal nucleated red blood cells

Y Chen, Z Wu, J Sutlive, K Wu, L Mao, J Nie… - Journal of …, 2022 - Springer
Noninvasive prenatal diagnosis (NIPD) aims to detect fetal-related genetic disorders before
birth by detecting markers in the peripheral blood of pregnant women, holding the potential …