NIPD

NIPD is a DNA test on maternal blood to diagnose prenatally a limited number of monogenic disorders in the fetus:

• Cystic fibrosis due to specific CFTR mutations
• Achondroplasia and thanatophoric dysplasia due to specific FGFR3 mutations
• Craniosynostosis due to specific FGFR2 mutations
• Apert syndrome
• Crouzon syndrome with acanthosis nigricans
• Sex determination in case of X-linked disorders (Duchenne muscular dystrophy, hemophilia)

NIPD for monogenic disorders is currently no routine diagnostic procedure and requires individual set up:

• For dominant disorders (eg achondroplasia) NIPD can currently only exclude:
  • specific paternal mutations in case the father is affected
  • “de novo” (new) mutations in case none of the parents is affected but the fetus is suspected to have the disorder on ultrasound.
• For recessive disorders (bv Cystic fibrosis) NIPD can currently only exclude specific paternal mutations whereas the maternal mutation cannot be excluded. In case NIPD finds the paternal mutation to be present in the maternal blood and fetus, an invasive test procedures such as amniocentesis (AC) and chorionic villus sampling (CVS) has to be performed to determine whether also the maternal mutation is present in the fetus. Currently NIPD is only possible for a limited number of monogenic disorders, but it is expected that in the near future NIPD will become possible for many monogenic disorders.