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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 Kilby
Published 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.
Keyphrases
  • pregnant women
  • high resolution
  • gestational age
  • magnetic resonance imaging
  • copy number
  • computed tomography
  • ultrasound guided
  • genome wide