Increase in prenatal testing for Down syndrome

Last year there were 12,000 Non-Invasive Prenatal Tests (NIPTs) done in Belgium, an expensive blood test carried out in early pregnancy to detect whether the foetus has Down syndrome or other chromosomal abnormalities.

The blood test, based on cell-free foetal DNA in maternal plasma, can assess with 99.9% certainty the risk of trisomy 21 (Down syndrome) in a foetus. It is therefore considerably more reliable than the combined test which measures the nuchal fold in the foetus’ neck, among other risk factors such as the mother’s age, which has become a standard check for about three-quarters of pregnant women.

The NIPT provides a safer alternative to another more accurate method of testing for Down syndrome, the risky puncture test which comes with a greater risk of miscarriage. However, the NIPT is expensive, costing between €450 and €600, and not covered by the Belgian health insurance. In spite of the high cost, the number of pregnant women requesting the test is steadily increasing.

UZ Leuven last year conducted nearly 5,000 NIPTs, says geneticist Eric Legius. "Most of the tests are sent to us by regional hospitals across the country, sometimes even from as far as Luxembourg." But more and more hospitals are starting to conduct their own NIPTs, including Brussels’ VUB (391), UZ Gent (400) and UZ Antwerp (360).

The leader in Belgium is the private laboratory Gendia in Antwerp, which last year performed nearly 6,000 NIPTs. Gendia does the analyses, but sends the blood samples to labs in the United States. About 60% of Gendia’s clientele are from the Netherlands, where the NIPT is forbidden for ethical reasons.

The forthcoming 2014 birth rates should determine whether there were fewer children born with Down syndrome due to the NIPT. In 2013, some 65,000 children were born in Flanders, including 58 with Down syndrome.