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Prenatal blood test for Down’s syndrome is to be introduced in Germany despite ethical and legal concerns

BMJ 2012; 345 doi: http://dx.doi.org/10.1136/bmj.e4836 (Published 18 July 2012) Cite this as: BMJ 2012;345:e4836
  1. Annette Tuffs
  1. 1Heidelberg

A new prenatal test that can detect Down’s syndrome from a mother’s blood sample is expected to be introduced soon in Germany, despite a legal expert saying that the test does not comply with Germany’s law on genetic diagnostic tests.

Although the government official with responsibility for people with learning disabilities and several ethicists oppose the new test, because they fear it will lead to more abortions and discrimination against children with Down’s syndrome, the president of the German Medical Association, Frank-Ulrich Montgomery, is in favour of it. He pointed out in an official statement that “society has already taken the decision in favour of prenatal diagnostics, and the clock cannot be turned back.”

Currently, about 50 000 people in Germany have Down’s syndrome, which is detected in one in 800 pregnancies.

The PrenaTest, which will also be introduced in Austria and Switzerland, investigates fetal DNA fragments in the mother’s blood and can detect Down’s syndrome but no other chromosomal abnormality. It is undertaken in the 12th to 14th week of pregnancy and has a very high sensitivity and specificity, said its manufacturer, the company Life-Codexx, which is based in Constance.

If the test gives a positive result an amniocentesis is performed to confirm the diagnosis. The test, which costs about €1200 (£940; $1460), is not covered by the health insurance companies. The development of the test was supported by a grant from Germany’s science ministry.

However, Hubert Hüppe, the government official for people with learning difficulties, has heavily opposed the test’s introduction. He believes that because the test carries no risks, unlike amniocentesis, which is associated with an increased risk of miscarriage, more pregnant women will use it, resulting in more abortions. In support of banning the test he cites the legal expert Klaus Gärditz, a professor in Bonn University’s Institute for Public Law, who said that Germany’s law on genetic diagnostic tests allows only those tests that aim to help the patient. Because Down’s syndrome cannot be treated, the test would have to be banned, he claimed.

But the ministry for social affairs in the state of Baden-Württemberg, which is responsible for accrediting the test in Germany, sees no legal basis for stopping the test, which is registered as a medical product rather than a drug.

In a statement on its website Life-Codexx referred to the “passionate and controversial discussion in the press” (http://lifecodexx.com/home-english.html). It pointed out that the test is a risk-free alternative to current invasive tests for Down’s syndrome and could protect about 600 children from the consequences of invasive prenatal diagnostic interventions. It complements current diagnostic tests and is legal, the firm says.

Notes

Cite this as: BMJ 2012;345:e4836