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Article

Application of SNP array for rapid prenatal diagnosis: implementation, genetic counselling and diagnostic flow.

European journal of human genetics : EJHG - 1 Dec 2011

Srebniak Malgorzata, Boter Marjan, Oudesluijs Grétel, Joosten Marieke, Govaerts Lutgarde, Van Opstal Diane, Galjaard Robert-Jan H

Abstract excerpt

We report on the validation and implementation of the HumanCytoSNP-12 array (Illumina) (HCS) in prenatal diagnosis. In total, 64 samples were used to validate the Illumina platform (20 with a known (sub) microscopic chromosome abnormality, 5 with known maternal cell contamination (MCC) and 39 normal control samples). There were no false-positive or false-negative results. In addition to the diagnostic...

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Identifiers

PMID: 21694736
DOI: 10.1038/ejhg.2011.119
PMCID: PMC3230359

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MCC

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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