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Some historical and general considerations on NIPT – great progress achieved, but we have to proceed with caution

Ever since we have recordings in history of human thoughts and emotions there is evidence for concern of expectant parents regarding the health of their unborn child. In the past, however, the ability to find out whether the growing fetus had problems in its development was very limited. Especially in the 70s this changed with the introduction of diagnostic ultrasound which allowed to visualize the features of the unborn child without harm, and around the same time biochemical marker screening approaches were developed for the prediction of neural tube defects or chromosomal anomalies in the fetus. The improvements of the ultrasound technology quickly allowed amniocentesis to be performed around 16 weeks of pregnancy and since the middle of the 80s chorionic villus biopsy at around 10weeks of gestation [1]. Ultrasound will most likely never be fully replaced in pregnancy surveillance by genetric techniques, because the majority of the structural defects to be detected prenatally which constitute the majority of the 2–4% congenital anomalies, are multifactorial (e.g. cardiac or neural tube defects) but the new powerful screening tests have to be combined in a logical and affordable way [2].