Pregnant women who have a non-invasive prenatal test (NIPT) should be informed of several findings as standard, not just if the baby has Down, Edwards or Patau syndrome. The Health Council announced this on Monday in an advisory report following a request from the Ministry of Health.
If pregnant women now opt for NIPT, a prenatal test that checks for chromosomal abnormalities in an unborn baby, information is only provided about three abnormalities: Down syndrome, Edwards syndrome and Patau syndrome.
But if it is up to the Health Council, other information from the NIPT must also be communicated from 1 April. Pregnant women can then no longer choose which information they want to know about possible serious genetic abnormalities.
The council assumes that “pregnant women who opt for NIPT want to know whether the baby has a serious chromosome abnormality and that it does not matter which chromosome it concerns”. The advice states that in addition to the three syndromes, other structural chromosome abnormalities must also be reported.
The minister has yet to make a decision on the advice. “If the minister actually wants to implement this advice, we still have to implement it,” explains a spokesperson for the RIVM. “That will never work before April 1.” It is therefore not yet clear whether or when these plans will be implemented.
Chromosomale afwijkingen die na de NIPT bekend worden gemaakt
- Downsyndroom: een extra chromosoom 21. Deze mensen zijn licht tot ernstig verstandelijk beperkt en hebben vaak last van andere lichamelijke problemen. Ze ontwikkelen zich langzamer dan mensen zonder deze aandoening.
- Edwardssyndroom: een extra chromosoom 18. Dat leidt tot ernstige afwijkingen aan de organen. Ook zijn de hersenen niet volledig ontwikkeld. Mensen met dit syndroom zijn ernstig gehandicapt.
- Patausyndroom: een extra chromosoom 13. Mensen hebben een ernstige hartafwijking en de hersenen zijn niet goed ontwikkeld. Vaak hebben deze mensen ook epilepsie en ademhalingsproblemen.
‘Research is getting better, simpler and more understandable’
According to a spokesperson for the Health Council, these are disorders of “comparable magnitude and impact”. “So it will be the choice for the woman: you do an NIPT or not,” he says in conversation with NU.nl. A pregnant woman can therefore no longer choose which results she will see.
According to the spokesperson, this advice promotes the investigation. “We will all do the same thing soon. The implementation and the help that is offered after any diagnoses will be aligned”. In addition, this makes the research less complicated.
If the advice becomes a final decision, results will also be shared that may indicate a malignant condition in pregnant women, such as certain forms of cancer. Women who do not make specific choices for the NIPT results already receive those results.
However, there are also findings that will not be included. These are rare deviations that often mean nothing. “In most cases, follow-up testing shows that only the placenta is affected. In some cases, this can lead to growth problems in the baby or pregnancy complications,” the Health Council said.
