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State-wide increase in prenatal diagnosis of klinefelter syndrome on amniocentesis and chorionic villus sampling: Impact of non-invasive prenatal testing for sex chromosome conditions.

Lulu LoughryCecilia PynakermghMary WhiteJane HallidayLisa Hui
Published in: Prenatal diagnosis (2022)
Screening for SCAs using NIPT has directly led to an increase in their prenatal diagnosis on a population-wide basis, especially 47,XXY. This has implications for clinician education, genetic counselling, and pediatric services.
Keyphrases
  • healthcare
  • copy number
  • pregnant women
  • primary care
  • mental health
  • genome wide
  • case report
  • smoking cessation
  • gene expression
  • dna methylation
  • hiv testing
  • health insurance
  • affordable care act
  • antiretroviral therapy