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.