The so-called non-invasive prenatal test (NIPT) should also be able to be used to detect genetic disorders other than the three syndromes for which the test is primarily intended, according to the Health Council of the Netherlands. So far, the test has specifically focused on Down, Edwards and Patau syndromes. In an advisory report to the Minister of Health, the Council proposes that pregnant women be given the choice whether they also want to be informed about other detected abnormalities in the child – or themselves.
The Health Council believes that such “incidental findings” should only be fed back that are known to be certain or very likely to lead to serious health problems in the child. It is better not to report deviations for which it is not known whether they really matter or can be treated, according to the council.
NIPT is currently available due to scientific research that runs until 2023. Politics has yet to decide whether the test will subsequently be offered as standard and under what conditions. During the research phase, pregnant women can also choose whether they want to be informed about incidental findings.
The NIPT is a test with blood of the pregnant woman and does not pose any risk to the unborn child. A positive test is correct in 99.9 percent of cases, but a definitive diagnosis requires chorionic villus sampling or amniocentesis. In about 1 in 250 cases, an incidental finding is found in the lab.
It is possible to use the NIPT to screen the entire genome for abnormalities. As far as the Health Council is concerned, this is used. For example, prenatal screening may be extended in the future to include conditions other than Down, Edwards and Patau. The last two syndromes that are now being tested are rare and very serious. Children who suffer from it often die before or shortly after birth.
By: ANP | Photo: ANP