Prenatal chromosomal microarray testing of fetuses with ultrasound structural anomalies: A prospective cohort study of over 1000 consecutive cases.
Hsu P ChongSusan HamiltonFionnuala MoneKa-Wang CheungFiona S TogneriRachel Katherine MorrisElizabeth Quinlan-JonesDenise WilliamsStephanie AllenDominic J McMullanMark David KilbyPublished in: Prenatal diagnosis (2019)
Prenatal aCGH is a useful diagnostic tool in the investigation of fetuses with a significantly elevated NT or structural anomaly. With time and experience, rates of pathogenic CNVs have increased, and VUS have reduced, supporting the prenatal application of increasingly high resolution aCGH platforms.