Journal of Primary Health Care Journal of Primary Health Care Society
Journal of The Royal New Zealand College of General Practitioners
RESEARCH ARTICLE (Open Access)

New screen on the block: non-invasive prenatal testing for fetal chromosomal abnormalities

Sara Filoche 1 , Beverley Lawton 1 , Angela Beard 2 , Anthony Dowell 3 , Peter Stone 4
+ Author Affiliations
- Author Affiliations

1 Women’s Health Research Centre, Department of Obstetrics and Gynaecology, University of Otago Wellington, Wellington, New Zealand

2 Christchurch Obstetric Associates, Christchurch, New Zealand

3 Department of Obstetrics and Gynaecology, University of Otago Wellington, Wellington, New Zealand

4 School of Medicine, The University of Auckland, Auckland, New Zealand

Correspondence to: Sara Filoche, Women’s Health Research Centre, Department of Obstetrics and Gynaecology, University of Otago Wellington, Wellington 6023, New Zealand. Email: Sara.Filoche@otago.ac.nz

Journal of Primary Health Care - https://doi.org/10.1071/HC16055
Published online: 13 October 2017

Journal Compilation © Royal New Zealand College of General Practitioners 2017.
This is an open access article licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

Abstract

Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value. The low false-positive rate (1–3%) is one of the most advertised advantages of NIPT. In practice, this could lead to a significant reduction in the number of false-positive tests and the need for invasive diagnostic procedures. NIPT is now suitable for singleton and twin pregnancies and can be performed from ~10 weeks in a pregnancy. NIPT is not currently publicly funded in most countries. However, the increasing availability of NIPT commercially will likely lead to an increase in demand for this as a screening option. Given the high numbers of women who visit a general practitioner (GP) in their first trimester, GPs are well-placed to also offer NIPT as a screening option. A GP’s role in facilitating access to this service will likely be crucial in ensuring equity in access to this technology, and it is important to ensure that they are well supported to do so.


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