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French Health Authority Recommends NIPT for Trisomy 21 After First Trimester Combined Screen

NEW YORK (GenomeWeb) – The French National Authority for Health (HAS) earlier this week published a public health recommendation that advises to make circulating cell-free DNA testing for fetal trisomy 21 in maternal blood available to all pregnant women if their first trimester combined screen indicates an increased risk.

HAS is an independent public authority that advises the French government on healthcare regulation. Its activities include the assessment of drugs, medical devices, and procedures and the accreditation of healthcare organizations and doctors.

In an April report, made public this week, HAS said that circulating cell-free DNA testing for fetal trisomy 21 should be offered if first-trimester combined screening, or in some cases second-trimester serum screening, indicates a fetal trisomy 21 risk between 1 in 1,000 and 1 in 51. For women with a risk of 1 in 50 or higher, HAS maintains its recommendation of invasive testing, though women may choose to undergo DNA testing first. 

Integrating cell-free DNA testing into the existing fetal trisomy screening program will improve the detection rate for Down syndrome and decrease the number of unnecessary invasive procedures, HAS said, but may require additional funding for screening.  

The organization stressed that screening by NIPT should not replace invasive diagnostic testing.

HAS also recommended the establishment of a quality assurance system for cell-free DNA trisomy 21 testing and the accreditation of laboratories that perform the tests, including minimum performance criteria for the tests, defined turnaround times, and harmonized test reports.

Finally, HAS called for the continued evaluation of cell-free DNA trisomy 21 testing and a re-evaluation of the screening strategy three years after its introduction, including screening for other fetal chromosomal aneuploidies and microdeletions.