Noninvasive prenatal testing for trisomy 21: Challenges for implementation in Australia

Lisa Hui, Jon Hyett

Research output: Contribution to journalReview articlepeer-review

37 Citations (Scopus)

Abstract

The term 'Non invasive prenatal testing' is used to describe the rapidly emerging molecular technologies related to cell free DNA assessment that are being applied to prenatal screening for Down syndrome and other chromosomal abnormalities. This technology is now available to Australian women through a number of off-shore laboratories. We review the basis of this method of testing, the literature describing the effectiveness of NIPT in screening for trisomy 21 and the potential methods by which this tool could be incorporated into current screening strategies.

Original languageEnglish
Pages (from-to)416-424
Number of pages9
JournalAustralian and New Zealand Journal of Obstetrics and Gynaecology
Volume53
Issue number5
DOIs
Publication statusPublished - Oct 2013
Externally publishedYes

Keywords

  • chromosomal abnormality
  • noninvasive prenatal test
  • prenatal screening
  • trisomy 21

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