Implications for future research:
New studies with long-term follow-up or postnatal karyotyping for all cases (high-risk and low-risk NIPT results) are needed, especially for SCAs. Systematic reviews in the following populations are crucial to understand the usefulness of cffDNA screening in all types of patients: multiple pregnancies, rare autosomal trisomies and other chromosomal abnormalities. The implementation of studies and systematic reviews on the other uses of cffDNA, such as vascular complications in pregnancy, could be of great interest.