» Articles » PMID: 38336835

Detection of Chromosomal Abnormalities and Monogenic Variants in Fetal CfDNA for Prenatal Diagnosis

Overview
Journal Nat Med
Date 2024 Feb 9
PMID 38336835
Affiliations
Soon will be listed here.
References
1.
Chiu R, Chan K, Gao Y, Lau V, Zheng W, Leung T . Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008; 105(51):20458-63. PMC: 2600580. DOI: 10.1073/pnas.0810641105. View

2.
Dungan J, Klugman S, Darilek S, Malinowski J, Akkari Y, Monaghan K . Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2022; 25(2):100336. DOI: 10.1016/j.gim.2022.11.004. View

3.
Zhang J, Li J, Saucier J, Feng Y, Jiang Y, Sinson J . Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA. Nat Med. 2019; 25(3):439-447. DOI: 10.1038/s41591-018-0334-x. View

4.
Xu C, Li J, Chen S, Cai X, Jing R, Qin X . Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening. Cell Discov. 2022; 8(1):109. PMC: 9562363. DOI: 10.1038/s41421-022-00457-4. View