Noninvasive prenatal testing

Jane G. Woolcock, Rosalie M. Grivell

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

Background: Noninvasive prenatal testing (NIPT) has marked a revolution in aneuploidy screening because it allows a simple maternal blood test to detect Down syndrome in a fetus with a very high level of accuracy (at least 99.5% with a false-positive rate of 0.2%). Objective: To describe the new tests that have become available and their place in antenatal screening to help GPs and their patients make informed decisions about their use. Discussion: Results are available from 12 weeks gestation, giving a high level of reassurance for Down syndrome early in pregnancy. There are concerns, however, that the test is being offered without proper counselling and that women may not have a 12-week ultrasound to exclude significant structural abnormalities, therefore decreasing the early detection of severe abnormalities. In addition, the test is expensive and therefore prohibitive for many women and their families.

Original languageEnglish
Pages (from-to)432-434
Number of pages3
JournalAustralian Family Physician
Volume43
Issue number7
Publication statusPublished - Jul 2014

Keywords

  • Antenatal screening
  • Genetic testing

Fingerprint Dive into the research topics of 'Noninvasive prenatal testing'. Together they form a unique fingerprint.

Cite this