Genomic SNP array as a gold standard for prenatal diagnosis of foetal ultrasound abnormalities

Gosia Srebniak, Marjan Boter, Grietje Oudesluijs, Titia Overbeek, LCP Govaerts, Karin Diderich, Renske Oegema, Maarten Knapen, Ingrid De Graaf - van de Laar, Marieke Joosten, D Opstal, Robert-Jan Galjaard

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Background: We have investigated whether replacing conventional karyotyping by SNP array analysis in cases of foetal ultrasound abnormalities would increase the diagnostic yield and speed of prenatal diagnosis in clinical practice. Findings/results: From May 2009 till June 2011 we performed HumanCytoSNP-12 array (HCS) ( analysis in 207 cases of foetal structural abnormalities. HCS allows detecting unbalanced genomic abnormalities with a resolution of about 150/200 kb. All cases were selected by a clinical geneticist after excluding the most common aneuploidies by RAD (rapid aneuploidy detection). Pre-test genetic counselling was offered in all cases. In 24/207 (11,6%) foetuses a clinically relevant Conclusions: Prenatal SNP array testing is faster than karyotyping and allows detecting much smaller aberrations (similar to 0.15 Mb) in addition to the microscopic unbalanced chromosome abnormalities detectable with karyotyping (similar to > 5 Mb). Since karyotyping would have missed 66% (16/24) of genomic abnormalities in our cohort, we propose to perform genomic high resolution array testing assisted by pre-test counselling as a primary prenatal diagnostic test in cases of foetal ultrasound a
Original languageUndefined/Unknown
JournalMolecular Cytogenetics
Publication statusPublished - 2012

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