Article
Prenatal diagnosis of susceptibility loci for neurodevelopmental disorders - genetic counseling and pregnancy outcome in 57 cases.
Prenatal diagnosis - 1 Jan 2017
Govaerts Lutgarde, Srebniak Malgorzata, Diderich Karin, Joosten Marieke, Riedijk Sam, Knapen Maarten, Go Attie, Papatsonis Dimitri, de Graaf Katja, Toolenaar Toon, van der Steen Sanne, Huijbregts Gido, Knijnenburg Jeroen, de Vries Femke, Van Opstal Diane, Galjaard Robert-Jan
Abstract excerpt
BACKGROUND: Whole genome array testing not only provides an increased diagnostic yield of pathogenic causative findings, but it may also reveal so called susceptibility loci (SL) for neurodevelopmental disorders. The goal of this study was to evaluate the pregnancy outcomes in SL cases and to establish a protocol for pregnancy management, follow-up and additional investigations. METHODS: Fifty seven cases were...
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