The test on placental cell-free DNA (genetic material) in maternal blood, offered in Germany since 2012, is an addition to the possibilities of non-invasive prenatal diagnosis in terms of the most common chromosomal abnormalities. With the NIPT, a high proportion, but not all cases of trisomy 13, 18 and 21 as well as a high proportion of the abnormalities in the number of sex chromosomes can be detected. Currently, additional applications are in test. It can rarely happen that there is a false positive finding or that the evaluation of the blood sample fails. NIPT is not an alternative to the first-trimester screening (ultrasound diagnosis) or amniocentesis or chorionic villus sampling (reliable detection or exclusion of all chromosomal abnormalities), but a supplement to the non-invasive tests with very high detection rates for the most common chromosomal abnormalities. A positive finding with the NIPT must be confirmed by an invasive diagnostic procedure (amniocentesis or chorionic villus sampling).
If you consider to use the NIPT, we recommend that it should be preceded by a first-trimester screening for a qualified early ultrasound examination. Ultrasound abnormalities may be due to a variety of genetic and non-genetic diseases which are not detectable with the NIPT.