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Sequential genomic testing in prenatal diagnosis: incremental yield of chromosomal microarray and exome sequencing, real-world NIPT confirmation rates and pregnancy outcomes in 120 consecutive amniocenteses from northeastern Türkiye — a retrospective cohort study

2026-08-28

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<title>Abstract</title> <p> <bold>Background:</bold> Chromosomal microarray analysis (CMA) and exome sequencing (ES) have been added to prenatal diagnosis alongside conventional cytogenetics rather than in place of it, and most evidence on what each platform contributes comes from high-volume tertiary centres. How much of the diagnostic information that finally reaches parents is attributable to the later tiers...

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Literature Corpus work
f462f9a3-43fe-54bd-ac06-08954bd673a0
DOI
10.21203/rs.3.rs-10562214/v1
Open publication

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Sequential genomic testing in prenatal diagnosis: incremental yield of chromosomal microarray and exome sequencing, real-world NIPT confirmation rates and pregnancy outcomes in 120 consecutive amniocenteses from northeastern Türkiye — a retrospective cohort studyDOI 10.21203/rs.3.rs-10562214/v1
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