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Maternal-Fetal MedicineSociety
SG-008ConsensusGenetics

Prenatal genetic screening and diagnosis

Indications for and limitations of NIPT, criteria for invasive diagnosis, principles of counselling and how results are communicated.

Version 1.130 pagesUpdated 28 January 2026Medical Genetics Working Group

Key recommendations

  • NIPT is a screening, not a diagnostic, test
  • A positive NIPT requires invasive confirmation
  • Counselling before and after testing is mandatory
  • The right to informed refusal is always protected

The document emphasises informed choice: screening should be offered, never imposed.

Communicating results

An abnormal result must be delivered in person — not by telephone or letter — and accompanied by genetic counselling.

Note: A guideline is a recommendation and does not replace the clinician's professional judgement in an individual case. Departing from it is acceptable where the reasoning is documented.