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Review
. 2013 Oct;53(5):416-24.
doi: 10.1111/ajo.12117. Epub 2013 Jul 31.

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

Lisa Hui  1 , Jon Hyett
Affiliations
Review

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

Lisa Hui et al. Aust N Z J Obstet Gynaecol. 2013 Oct.

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.

Keywords: chromosomal abnormality; noninvasive prenatal test; prenatal screening; trisomy 21.

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