The test (NIPT) will be available free of charge to all pregnant women in the Netherlands from 1 April
The screening landscape in the Netherlands is fragmented across many different diseases, says professor Erik Sistermans of Amsterdam UMC in his inaugural lecture. And that can be done differently, for example with tests around pregnancy. Sistermans played an important role in the introduction of the NIPT, the non-invasive prenatal test, a safe and reliable test in pregnant women for, among other things, Down’s syndrome in the unborn child. The test will be available free of charge to all pregnant women in the Netherlands from 1 April.
Until now, the test was only available to pregnant women who participated in large studies: the TRIDENT studies. Sistermans led this collaboration between eight university centers, involved professional associations and patient association VSOP. Due to the positive results regarding, among other things, the safety and reliability of the test, the NIPT will become a permanent part of regular prenatal screening from 1 April 2023. The TRIDENT-2 study also received a ZonMW pearl on 26 January, an honorary prize that praised the good collaboration and the major scientific and social impact.
Better never sick
Sistermans, professor of Human Genetics, in particular prenatal genome diagnostics, advocates a different way of thinking about screening and diagnosis before, during and after pregnancy. He also thinks that the data obtained from a screening can be used more effectively. All this should lead to health benefits for both the pregnant woman and the (unborn) child. In his inaugural lecture entitled Better never than late, Sistermans says: “We are actually always too late when we make a diagnosis, how much better would it be to never get sick?”
Can be more efficient
According to Sistermans, laboratory screening around pregnancy in the Netherlands could be improved. “Now there is a screening for three chromosome abnormalities during pregnancy, such as in Down’s syndrome. And there is a separate screening for three viruses and blood group antibodies. And if necessary, another at 27 weeks to determine the child’s blood group. I think it’s time to change this, with the technology now available, this can be done more efficiently. And – early in the pregnancy – many more relevant matters can be tested for the health of mother and child.”
Saved a lot of suffering
There is also room for improvement in pre-pregnancy screening. A ‘preconception carrier test’ has been offered at Amsterdam UMC for many years. This test checks whether the future parents are carriers of hereditary diseases that pose risks to the health of the child. “In the beginning this was only for cystic fibrosis, but we can now identify more disorders. This preconception screening focuses on serious disorders in which both parents – without knowing it – are carriers of a gene mutation associated with the same hereditary disorder. They do not suffer from this themselves, but if a child inherits the mutation from both mother and father, the child will become ill,” says Sistermans. The costs – about € 650 – are usually not reimbursed, which means that little use is made of the test. Sistermans thinks that a lot of suffering and medical costs can be saved if this screening is reimbursed.
Wishes
Sistermans also has plenty of wishes when it comes to screening just after pregnancy, the baby’s heel prick screening. There are currently no tests for diseases for which there is no treatment yet. “However, it is extremely important for parents to get a diagnosis quickly if their child is ill. Now we only screen for diseases that can be treated. I advocate seriously considering adding untreatable conditions to the heel prick screening.”
One test for everything
According to Sistermans, it would be good to aim for a different set-up of screenings and tests, not for all kinds of things separately, but one test for everything. So one test early in pregnancy aimed at a healthy outcome of the pregnancy for child and mother. “That is not possible at the moment, but it will be in the very near future. With the current techniques it is no longer necessary to set up a separate test for each disorder. It goes without saying that we should not do everything that is technologically possible, but doctors and policymakers can, and must, start thinking now about how we can use these new technologies in a responsible way. It is quite possible, the implementation of the NIPT is a good example of this.”
Source: Amsterdam UMC
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