During genetic counselling in case of family planning, the couple’s age, illnesses and family history are discussed, and based on these, they receive information about whether they have an increased risk of a genetic abnormality. If so, the extent of this risk and what options are available to reduce or eliminate it are discussed. In case of couples with a general risk, it is also possible to use screening tests (e.g. chromosome testing, CFTR gene mutation carrier screening, SMA screening), which can help identify a variation that may not have caused disease in the family so far. In addition, it is also possible to screen for certain anomalies that cause infertility, if the couple requests it. Of course, even in case of family planning, genetic counselling does not oblige the couple to have any tests. However, in the light of counselling, the couple can make an informed decision regarding the use of tests.
In case of a confirmed pregnancy, it is possible to (non-invasively) screen the fetus for chromosomal abnormalities from the mother’s blood with the NIFTY test. The test is comprehensive and accurate, as it detects abnormalities on all 23 chromosomes and screens for an additional 96 different genetic abnormalities. The sensitivity of the test has been proven to be over 99% for trisomies 21, 18 and 13 (determined from testing 147,000 pregnancies).