Non-invasive prenatal testing for down syndrome

Jon Hyett

doi:10.18773/austprescr.2014.022

Non-invasive prenatal testing for down syndrome

Jon Hyett

Royal Prince Alfred Hospital

Research output: Contribution to journal › Article › peer-review

4 Citations (Scopus)

Abstract

Fetal DNA can be detected in maternal plasma. This can be used to identify chromosomal and genetic abnormalities. The concentration of free fetal DNA increases with advancing gestation. Non-invasive prenatal testing should not be performed before 10 weeks. Non-invasive prenatal testing has more than 99% sensitivity and specificity for trisomy 21. It can also be used to identify trisomy 18, trisomy 13 and 45X. Non-invasive prenatal testing will not detect all chromosomal abnormalities found by amniocentesis.

Original language	English
Pages (from-to)	51-55
Number of pages	5
Journal	Australian Prescriber
Volume	37
Issue number	2
DOIs	https://doi.org/10.18773/austprescr.2014.022
Publication status	Published - Apr 2014
Externally published	Yes

Keywords

Aneuploidy
Genetic testing
Trisomy
Turner syndrome

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10.18773/austprescr.2014.022

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Non-invasive prenatal testing for down syndrome

Abstract

Keywords

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