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Principles of first trimester screening in the age of non-invasive prenatal diagnosis: screening for chromosomal abnormalities.

Karl Oliver KaganJiri SonekPhilipp WagnerMarkus Hoopmann
Published in: Archives of gynecology and obstetrics (2017)
Significant advances in screening for trisomy 21 have been made over the past 2 decades. Contemporary screening policies can detect for more than 95% of affected fetuses for false positive rate of less than 3%.
Keyphrases
  • gene expression
  • dna methylation
  • copy number
  • genome wide
  • preterm birth