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Article

Non-targeted whole genome 250K SNP array analysis as replacement for karyotyping in fetuses with structural ultrasound anomalies: evaluation of a one-year experience.

Prenatal diagnosis - 1 Apr 2012

Faas Brigitte H W, Feenstra Ilse, Eggink Alex J, Kooper Angelique J A, Pfundt Rolph, van Vugt John M G, de Leeuw Nicole

Abstract excerpt

OBJECTIVE: We evaluated both clinical and laboratory aspects of our new strategy offering quantitative fluorescence (QF)-PCR followed by non-targeted whole genome 250K single-nucleotide polymorphism array analysis instead of routine karyotyping for prenatal diagnosis of fetuses with structural anomalies. METHODS: Upon the detection of structural fetal anomalies, parents were offered a choice between QF-PCR and...

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PMID: 22467167
DOI: 10.1002/pd.2948

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