Related Experiment Video
Updated: Apr 27, 2026
Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Noninvasive prenatal testing
Jane Woolcock1, Rosalie Grivell
1BSc, BMus, BMBS (Hons), FRANZCOG, DDU, Staff Specialist, Obstetrics and Gynaecology, Women's and Children's Hospital, Adelaide, and Senior Lecturer, University of Adelaide, SA.
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.
