Non-invasive prenatal testing NIPT

As a result of technological advances in human genome research and sequencing, methods have been developed for early detection of certain chromosome abnormalities. A few years ago, a new non-invasive method of prenatal screening for trisomy 21 (as well as trisomy 13 and 18) was introduced for use alongside the standard first-trimester test. NIPT investigates fragments of placental DNA circulating in the mother's bloodstream. This method has a high level of sensitivity and reduces the number of false-positive results; in addition, it can generally reduce the use of invasive procedures and thus the risk of miscarriage.

However, the introduction of NIPT also raises a number of important ethical questions - e.g. with regard to protection of the embryo and the mother's or parents' self-determination, the potential for indirect discrimination against people who have the disabilities that NIPT screens for, the risk of routinisation of NIPT, the need for genetic counselling, the definition of what constitutes a "significant" impairment of health, and the accessibility of tests on the market.

A number of these ethical issues are discussed in a NCE Opinion (only in german, french and italien).

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