Article
Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.
European journal of human genetics : EJHG - 1 May 2016
Srebniak Malgorzata I, Diderich Karin Em, Joosten Marieke, Govaerts Lutgarde Cp, Knijnenburg Jeroen, de Vries Femke At, Boter Marjan, Lont Debora, Knapen Maarten Fcm, de Wit Merel C, Go Attie Tji, Galjaard Robert-Jan H, Van Opstal Diane
Abstract excerpt
To evaluate the diagnostic value of single-nucleotide polymorphism (SNP) array testing in 1033 fetuses with ultrasound anomalies we investigated the prevalence and genetic nature of pathogenic findings. We reclassified all pathogenic findings into three categories: causative findings; unexpected diagnoses (UD); and susceptibility loci (SL) for neurodevelopmental disorders. After exclusion of trisomy 13, 18, 21,...
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