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Article

Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center study.

Journal of human genetics - 1 Sept 2026

Uchida Shiho, Mizuguchi Yuki, Sato Suguru, Sueoka Kou, Tanaka Mamoru

Abstract excerpt

Non-invasive prenatal testing (NIPT) is widely used for fetal aneuploidy screening; however, most evaluations of test accuracy rely on pregnancy outcomes rather than cytogenetic confirmation after birth, and evidence regarding the real-world performance of single-nucleotide polymorphism (SNP)-based NIPT remains limited. We analyzed prospectively collected clinical data from pregnant women at high risk of fetal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 42243550
DOI: 10.1038/s10038-026-01483-w
PMCID: PMC13503270

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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