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Review Addresses Cell-Free DNA Sequencing in Pregnancy

MONDAY, Aug. 20, 2018 -- Cell-free DNA (cfDNA) sequencing represents an advance in genomic medicine and has associated ethical challenges, according to a review article published in the Aug. 2 issue of the New England Journal of Medicine.

Diana W. Bianchi, M.D., from the National Institutes of Health in Bethesda, Md., and Rossa W.K. Chiu, M.B.B.S., Ph.D., from the Chinese University of Hong Kong, address the implementation of cfDNA sequencing in pregnancy and associated ethical concerns.

The researchers note that the clinical adoption of cfDNA sequencing for chromosomal aneuploidy screening has already had a global effect. Professional guidelines recommend cfDNA testing for trisomy 21, 18, and 13 for pregnant women at high risk for fetal aneuploidy; some guidelines support testing for all women. The spectrum of chromosomal aberrations that are reportable by cfDNA testing has greatly expanded recently; however, this is not currently recommended for routine screening, as there are limited prospective studies and incomplete outcome data. At present, no oversight or approval for testing is provided by the U.S. Food and Drug Administration. In addition, ongoing competition among commercial groups has led to introduction of testing before demonstration of clinical utility. An education gap has been noted, as techniques were developed after providers received their training.

"Maternal plasma cfDNA sequencing represents a major advance in genomic medicine that has resulted in more precise screening, reduced invasive procedures, and created multiple ethical challenges," the authors write.

The authors disclosed financial ties to companies that offer sequencing and genetic testing technologies.

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Posted: August 2018