NIPT: an issue to handle with care

Attending the 2018 World Down's Syndrome Congress inspired me to address the need for a care pathway for Down Syndrome in the ante- and postnatal periods, in collaboration with my Hospital Trust. The pathway will incorporate non-invasive prenatal testing (NIPT) for the common trisomies (Down, Edward's and Patau's Syndromes), which is due to be rolled out in the NHS in 2019 (Department of Health, 2016).

Fetal fraction, a small amount of cell-free DNA from the fetus, circulates in the maternal bloodstream. These DNA fragments are examined for trisomy (the addition of an extra chromosome in each cell). The results of this are analysed against maternal age and gestation to produce either a high or low probability that the fetus has each of the three trisomies.

The benefit of this test is that it involves a single maternal blood test, any time from 10 weeks' gestation. Unlike the other second-stage tests, amniocentesis and chorionic villus sampling, it carries no risk to the fetus (Ralph and Marshall, 2018)