What does a couple want to know about the health of their unborn child? This is a question parents-to-be ask themselves early in pregnancy. Many exams are standard, others are optional.
This includes the non-invasive prenatal test, or NIPT for short. Since July 2022, the health insurance company has covered the costs under certain conditions.
The voluntary test can be used from the tenth week of pregnancy and is low-risk for mother and child: the child’s DNA is obtained from the blood sample of the pregnant woman in the laboratory, which provides information about genetic changes. For example, whether there could be a trisomy, in which certain chromosomes in the child’s cells are present three times instead of twice.
“The test is not one of the generally recommended check-ups,” says gynecologist Jochen Frenzel from Saarbrücken. He has the so-called additional qualification for specialist genetic counselling. It is mandatory to inform pregnant women about the NIPT and to carry it out.
In order for the health insurers to pay for the test, there must be a reason. This can be a conspicuous ultrasound finding, for example. “Ultimately, however, all pregnant women are entitled to have the costs covered as long as they express their concern about possible illnesses in their child and this concern is a psychological burden on them.”
Jochen Frenzel explains the existence of the test to his pregnant patients during the first examination. For him, this includes providing sufficient information and advice about the significance and possible consequences of the finding.
It is important to Jochen Frenzel that expectant parents do not overestimate the informative value of the NIPT. “Many parents believe that a negative result guarantees them a healthy child, which is not the case,” says the gynaecologist, who is also a board member of the professional association of gynecologists.
Because: The NIPT can only determine the probability of trisomies 13, 18 and 21 – the many hundreds of other genetic diseases or purely physical diseases that are not related to genetics are left out.
So what does the so-called NIPT say? “It can identify the chromosome deviations that are responsible for trisomy 13, 18 or 21,” says Oliver Harzer. He is a specialist in laboratory medicine and managing director of the laboratory Bioscientia Healthcare GmbH.
The test is very meaningful and delivers a correct result in 99.9 percent of the cases. This is usually after two days at the earliest and is usually communicated to the parents by the attending gynecologist.
“Despite the high level of certainty, the NIPT result is not a diagnosis, but is understood as a risk assessment,” explains Johanna Tecklenburg, a doctor in human genetics at Bioscientia Healthcare in Ingelheim.
For a reliable diagnosis, a positive NIPT result must be followed by invasive tests – the so-called chorionic villus biopsy, in which tissue is removed from the placenta and examined in the laboratory. Or amniocentesis, in which amniotic fluid is removed and examined.
Only when these invasive procedures have taken place and a reliable diagnosis is available, are pregnant women allowed to have a late abortion due to their child’s disability if they decide to do so.
Important to know: One to four out of 1000 women will suffer a miscarriage as a result of the invasive examinations.
“If the result of the blood test is positive, this often puts parents in a state of shock, from which they have to make further important decisions,” says Angelika Dohr, a gynecologist and medical psychotherapist. On behalf of Pro Familia, she provides psychosocial advice on prenatal diagnostics at the University Hospital in Münster.
“Counseling is about enduring the incomprehensible, consciously speaking out thoughts, answering questions and creating time for a decision and for validating the test.” What exactly does it mean if my child has trisomy 13, 18 or 21? What can family life look like then?
Value-neutral information and time to think are the most important things in this situation, says Angelika Dohr. The doctor usually only sees the women and couples after a conspicuous finding, although the counseling service – like others – could be used before the NIPT. “It is important for pregnant women to know that they can contact us at such an early stage.”
Anyone who is well prepared for the decision options after a conspicuous finding can, for example, decide in advance to forgo the NIPT, according to Dohr. Specialists in human genetics also offer detailed advice after a positive NIPT result.
Since the health insurance companies took over the costs of the NIPT, laboratory physician Oliver Harzer has noticed a higher number of tests in his laboratories. “There are significantly more inquiries, we already had to upgrade the equipment.”
It is all the more important that the networks between gynaecologists, human geneticists and counseling centers work well. “Each of us is a piece of the mosaic when it comes to the care and advice given to pregnant women,” says Harzer. It is of central importance that parents-to-be are aware of the counseling options at an early stage. Because then they can choose the right path for themselves.
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