The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.

doi:10.1002/humu.23232

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The influence of SNP-based chromosomal microarray and NIPT on the diagnostic yield in 10,000 fetuses with and without fetal ultrasound anomalies.

Human mutation - 1 Jul 2017

Srebniak Malgorzata I, Knapen Maarten F C M, Polak Marike, Joosten Marieke, Diderich Karin E M, Govaerts Lutgarde C P, Boter Marjan, Kromosoeto Joan N R, van Hassel Daniella Aloysia C M, Huijbregts Gido, van IJcken Wilfred F J, Heydanus Roger, Dijkman Anneke, Toolenaar Toon, de Vries Femke A T, Knijnenburg Jeroen, Go Attie T J I, Galjaard Robert-Jan H, Van Opstal Diane

Abstract excerpt

Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and noninvasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for...

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PMID: 28409863
DOI: 10.1002/humu.23232

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