Non-invasive molecular genetic tests for trisomies diagnostics will be available in Germany

On the 19th of September 2019, the Federal Joint Committee (G-BA) concluded on the possible applications and limits of non-invasive molecular genetic tests (NIPT) at the expense of the statutory health insurance (SHI). The decision provides that a NIPT can be used in justified individual cases and after medical consultation.

The aim is to avoid as far as possible the invasive examinations necessary for clarifying the question of the presence of a trisomy 13, 18 or 21 - chorionic villus biopsy (biopsy of the placenta) or amniocentesis (procedure in which a small amount of amniotic fluid is removed from the sac surrounding the fetus for testing) - and the associated risk of miscarriage (which is estimated as in 5 to 10 out of 1000 women examined). The performance of amniocentesis or chorionic villus sampling may be limited to a potentially required diagnostic evaluation. However, the NIPT is planned to be charged by the SHI only in justified individual cases in pregnancies with special risks and must be associated with intensive counseling and education. These very narrow conditions clearly and unambiguously stipulate in the framework of the Maternity Guidelines that the NIPT will not be used as an ethically unacceptable "screening," but the application of the NIPT can only be carried out under certain conditions. The test should be used from the 9th week of pregnancy.

NIPT tests available on the market since 2012 are designed to determine the risk of fetal trisomy 13, 18 or 21 during pregnancy. The cell-free fetal DNA present in the blood of pregnant women is analyzed by molecular genetics methods.

Women should be helped to make an independent, informed decision as to whether they consider this prenatal genetic examination to be necessary. The medical education and advice on the nature, significance, and scope of the genetic examination and its possible findings have to take place openly and in an understandable form.

Physicians who will inform and advise pregnant women before and after the test must have a qualification in accordance with the Gene Diagnostics Act and the guidelines of the Genetic Diagnostics Commission.

The utilization of a NIPT at the expense of the SHI will only be possible when the mandatory information provided by the insured will be developed and approved by the G-BA. The decision is expected to be taken by the end of 2020 in case of non-objection from the Federal Ministry of Health (BMG).

The full details in German can be found here.

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