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A two-year prospective study assessing the performance of fetal chromosomal microarray analysis and next-generation sequencing in high-risk pregnancies.

Molecular genetics & genomic medicine - 1 Oct 2021

Ridnõi Konstantin, Muru Kai, Keernik Maria, Pajusalu Sander, Ustav Eva-Liina, Tammur Pille, Mölter-Väär Triin, Kahre Tiina, Šamarina Ustina, Asser Karin, Szirko Ferenc, Reimand Tiia, Õunap Katrin

Abstract excerpt

BACKGROUND: Introduction of cell-free fetal DNA (cff-DNA) testing in maternal blood opened possibilities to improve the performance of combined first-trimester screening (cFTS) in terms of better detection of trisomies and lowering invasive testing rate. The use of new molecular methods, such as chromosomal microarray analysis (CMA) and next-generation sequencing (NGS), has shown benefits in prenatal diagnosis of...

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Source

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Identifiers

PMID: 34486251
DOI: 10.1002/mgg3.1787
PMCID: PMC8580097

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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