Future parents must be able to make an informed decision

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Prenatal diagnostic examinations provide information on possible anomalies, hereditary diseases and malformations of the fetus well before birth. However, the procedures are not without risks. The Austrian Institute for Health Technology Assessment (AIHTA) has just analyzed the regulation and financing of these examinations in six European countries. One of the main conclusions of the study is that professional advice is needed so that expectant parents can make an informed decision about whether and which exams they wish to take advantage of.

Looking at the unborn life is more than just “looking at the baby”. Thanks to prenatal diagnosis, abnormalities, diseases and malformations can be discovered before the birth of the child. “The term is misleading, however, because prenatal diagnosis also includes screening procedures that do not allow clear diagnoses to be made,” says AIHTA’s Inanna Reinsperger, who has now analyzed the management and funding of different examinations in six European countries in a report initiated by the Federal Ministry of Social Affairs, Health, Care and Consumer Protection (BMSGPK).

For example, the first trimester screening (FTS) or the combined test (CT), which involves an ultrasound nuchal translucency scan of the fetus and a blood test of the expectant mother, offers only a certain probability of chromosomal abnormalities such as trisomy 21 (Down’s syndrome), trisomy 18 (Edwards’ syndrome) and trisomy 13 (Paetau’s syndrome). “This means that there can also be false positive test results. This uncertainty can only be eliminated by subsequent invasive examination, but it also increases the risk of miscarriage,” says Reinsperger. According to the AIHTA report, FTS/CT is offered to all pregnant women and publicly funded in three of the six countries reviewed, including Switzerland, the UK and Italy. In Germany, screening must be paid for entirely privately.

The Netherlands and Norway take a different approach and have replaced the FTS/CT with the so-called “non-invasive prenatal test” (NIPT). Here, free components of fetal DNA from chromosomes 13, 18, and 21 that can be detected in maternal blood are counted from a blood sample of the pregnant woman. “Although this test is significantly more accurate than first-trimester screening due to its higher specificity and sensitivity, it cannot completely rule out the risk of false-positive and false-negative results,” says Reinsperger, head of the ‘study.

Of the countries surveyed, only the Netherlands currently offers NIPT to all women as a first screening test. “Women can benefit from the test for a financial contribution of 175 euros as part of a scientific study. For pregnant women at increased risk (age over 35, hereditary risk, or ultrasound abnormalities), NIPT is fully funded by the state. says the AIHTA report. In Switzerland, Great Britain and Norway, NIPT is offered to women at increased risk (eg due to an abnormal FTS/CT result) and is covered by health insurance.

In Germany, the recent decision to introduce NIPT as a health insurance benefit in certain cases has triggered a major debate. The main point of criticism is that NIPT has no medical benefit in the sense that it does not maintain, restore or improve the health of the pregnant woman or the unborn child, and therefore does not address actually meet the criteria for inclusion in the catalog of services provided by the compulsory health insurance funds.

More evenly regulated diagnostic procedures

While the funding and regulation of screening procedures are handled very differently in the six countries, there are great similarities between the countries when it comes to ultrasound screening for second trimester fetal anomalies, also known in Austria as the name “organ screening”, and invasive diagnostic procedures. Ultrasound screening for fetal abnormalities is offered to all pregnant women in the countries surveyed for the analysis and is usually publicly funded. Only in Germany do pregnant women have to be referred due to increased risk for the costs to be covered by health insurance.

Invasive tests based on analysis of amniotic fluid (amniocentesis) or placental tissue (chorionic villus sampling) are offered in all six countries exclusively to pregnant women with risk factors (abnormal ultrasound results or FTS or NIPT indicating high risk of chromosomal abnormality). anomaly). In these cases, the costs are covered by the public sector.

Make an informed decision based on professional advice

Reinsperger considers professional counseling to be of paramount importance: “It is not a question of presenting an examination procedure as better or more important, but of enabling pregnant women to make an informed and evidence-based decision as to whether or not they wish to have any examinations carried out and, if so, which ones.

Based on these tips, expectant parents should also be able to correctly assess test results. For example, the chance that a 40-year-old pregnant woman who receives a high-risk NIPT result for trisomy 21 will actually give birth to a child with Down syndrome is 93%. By comparison, the probability for a 25-year-old woman is only 51% due to the different baseline risk. “This should be considered when deciding which pregnant women to offer the test to,” the AIHTA report said. Reinsperger adds: “It is important to consider in advance the consequences that a test result will have for you personally. Therefore, it is also important to explain to women or expectant parents during counseling what these probabilities mean. .”

The analysis showed that counseling related to prenatal screening and diagnostic tests is offered in the six selected countries. However, information about the benefits and risks of testing is treated differently. In the UK and the Netherlands, it is explicitly part of the screening program and is usually provided by certified midwives in early pregnancy. For quality assurance reasons, they must carry out a minimum number of consultations per year and undergo continuous training. In Germany and Switzerland, on the other hand, it is mainly gynecologists who provide advice on prenatal diagnosis. In Germany, the Institute for Quality and Efficiency in Healthcare (IQWiG) offers information about NIPT to pregnant women.

The situation in Austria

“In Austria, there has been no public and societal debate about which prenatal diagnostic examinations should be paid for and offered by the public sector,” says Inanna Reinsperger. Currently, in the case of certain risk factors (for example, maternal age of 35 years or more, presence of genetic diseases in first-degree relatives), single examinations are financed by the State, provided that they are performed in hospitals. “Many women also feel that all these exams are ‘necessary’ or part of prenatal care. Some women have them done in the private sector, where they have to pay a lot of money. But many cannot afford it at everything,” says Reinsperger.

The expert also points out that there is still a lot of progress to be made in terms of “counseling” in Austria: “Counseling must be of high quality and scalable, so that pregnant women and future parents can make an informed decision” . without pressure as to whether or not they want these exams done in their current situation,” says Reinsperger.

Research supports expansion of insurance coverage for noninvasive prenatal testing

More information:
Regulation and financing of prenatal screening and diagnostic examinations for fetal abnormalities in certain European countries. AIHTA Policy Brief No.: 12; 2022. Vienna: HTA Austria—Austrian Institute for Health Technology Assessment GmbH. eprints.aihta.at/1369/

Provided by Austrian Institute for Health Technology Assessment GmbH

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