Facts, Views & Vision
in ObGyn

Journal of the European Society for Gynaecological Endoscopy

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The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands

authors

P.J. Willems1, H. Dierickx1, ES. Vandenakker2, D. Bekedam2, N. Segers1, K. Deboulle1, A. Vereecken1

1 GENDIA (GENetic DIAgnostic Network), Emiel Vloorsstraat 9, 2020 Antwerp, Belgium.
2 Onze Lieve Vrouwe Gasthuis, Oosterpark 9, 1091 AC Amsterdam, The Netherlands.

Correspondence at: patrick.willems@genetic-diagnostic.net

Keywords:

combination test, Down Syndrome screening, first trimester screening, NIPT, non-invasive prenatal test, Triple test, Trisomy 13, Trisomy 18, Trisomy 21.


Published online: Apr 24 2014

Abstract

As the classical first trimester Down syndrome screening (FTS, combination test) has a false-negative rate of 20-25% and > 95% of the abnormal FTS results are false-positive, we evaluated the new Non-Invasive Prenatal Test (NIPT) in Belgium and the Netherlands.
The study population consisted of 3000 consecutive pregnancies in Belgium and the Netherlands in which NIPT was performed using the Harmony test. In 57 (1.9%) of the 3000 pregnancies an abnormal NIPT result was found. This included 51 fetuses with trisomy 21, 4 fetuses with trisomy 18 and 2 fetuses with trisomy 13. In 47 of the 57 the NIPT result was confirmed by genetic testing of material obtained by amniocentesis or chorionic biopsy, and no false-positive results were recorded. The false-negative rate as determined on more than 2000 women that had delivered at the time of reporting was low, and so far only 2 false-negative results were reported (one trisomy 18 and one trisomy 21). The failure rate where no NIPT result could be obtained after repeated sampling was 0.90%.
In this large clinical series, NIPT using the Harmony test proves to be a very reliable prenatal test to detect fetal trisomies 21, 18 and 13 in maternal blood in Belgium and the Netherlands.