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Non-invasive Prenatal Testing for Chromosomal Abnormality using Maternal Plasma DNA (Scientific Impact Paper No. 15)


Based on the 1997 discovery of cell-free fetal DNA (cffDNA) in maternal blood, non-invasive prenatal testing (NIPT) allows the fetal genome to be tested from a sample of the mother’s blood. Existing uses include the identification of fetal blood group, the determination of fetal sex (when at risk of sex-linked diseases) and the detection of chromosomal abnormalities, including Down syndrome.

l, financial and ethical issues remain as NIPT becomes a primary screen for those women who wish to know about fetal chromosomal abnormality. Since these tests are increasingly being chosen, all obstetricians will need to be aware of the issues raised.

This updated Scientific Impact Paper, written by experts in the field – former chair of the Fetal Anomaly Screening Programme steering committee, Professor Peter Soothill, and the discoverer of cffDNA, Professor Dennis Lo – summarises current evidence and issues in this area, with particular emphasis on the detection of chromosomal abnormalities.

COVID disclaimer

This Scientific Impact Paper was developed prior to the emergence of the COVID-19 coronavirus.

Version history

This is the second edition of this Scientific Impact Paper.

Please note that the Scientific Advisory Committee regularly assesses the need to update. Further information on this review is available on request.

Developer declaration of interests

Available on request.

This page was last reviewed 04 March 2014.