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The epidemic of abnormal copy number variant cases missed because of reliance upon noninvasive prenatal screening.

Mark I EvansStephanie AndrioleJenifer CurtisShara M EvansAlan A KesslerAndrew F Rubenstein
Published in: Prenatal diagnosis (2019)
Noninvasive prenatal screening has significantly changed the practice of prenatal screening. However, while increasing the detection of Down syndrome, the concomitant decrease in DP and lack of aCGH results in missing many more abnormalities than the increase in Down syndrome and complications of DP combined. From a public health perspective, such represents a missed opportunity for overall health care delivery.
Keyphrases
  • copy number
  • healthcare
  • public health
  • pregnant women
  • mitochondrial dna
  • genome wide
  • primary care
  • risk factors
  • gene expression
  • quality improvement