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Article

SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy.

Prenatal diagnosis - 1 Jul 2013

Samango-Sprouse Carole, Banjevic Milena, Ryan Allison, Sigurjonsson Styrmir, Zimmermann Bernhard, Hill Matthew, Hall Megan P, Westemeyer Margaret, Saucier Jennifer, Demko Zachary, Rabinowitz Matthew

Abstract excerpt

OBJECTIVE: This study aimed to develop a single-nucleotide polymorphism-based and informatics-based non-invasive prenatal test that detects sex chromosome aneuploidies early in pregnancy. METHODS: Sixteen aneuploid samples, including thirteen 45,X, two 47,XXY, and one 47,XYY, along with 185 euploid controls, were analyzed. Cell-free DNA was isolated from maternal plasma, amplified in a single multiplex polymerase...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 23712453
DOI: 10.1002/pd.4159
PMCID: PMC3764608

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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