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

ABSTRACT:

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) (http://www.Illumina.com) 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 genetic abnormality was detected. Only 8/24 abnormalitie

SUBMITTER: Srebniak MI 

PROVIDER: S-EPMC3328283 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature