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    Failed cfDNA screen may signal increased risk of fetal aneuploidy


    “Among women who fail NIPT, the increased risk of chromosomal abnormalities is mostly for trisomy 13, trisomy 18, and triploidy, all of which cause such serious defects that they might be found on ultrasound,” she explained.

    As a caveat to generalization of the study results, Dr. Norton noted that all of the NIPT specimens from the Kaiser population were analyzed at a single laboratory. Rates of screen failure vary among laboratories due to differences in methodology.

    Regardless of that potential difference, as stated in the recently updated joint American College of Obstetricians and Gynecologists/Society for Maternal-Fetal Medicine Committee Opinion on cfDNA screening for fetal aneuploidy, women whose NIPT results are not reported, indeterminate, or uninterpretable should receive further genetic counseling and be offered comprehensive ultrasound evaluation and diagnostic testing because of the increased risk of aneuploidy. 


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