Influence of fibroids on cell-free DNA screening accuracy
Cell-free DNA (cfDNA) screening assesses maternal and placental cfDNA. Fibroids are common and around 50% are genetically abnormal, releasing cfDNA into the maternal serum.

Researchers aimed to assess the impact of fibroids on genome-wide cfDNA screening accuracy.

Over 14 months, 13,184 patients had cfDNA screening, of whom 1017 had fibroids.

- Fibroids were not identified in any of the 17 participants who had a false-positive result for chromosomes 13, 18, 21, X, or Y.

- In 95 cases, a sub-chromosomal aberration (SA), a rare autosomal trisomy, or multiple abnormalities was found, ten with a fatal genetic abnormality.

- Women with fibroids were nearly twice as likely to have a false-positive result for SAs, associated positively with both fibroid number and volume.

Most women with fibroids do not have an abnormal result on genome-wide cfDNA screening. However, CNVs due to fibroids are associated with false-positive SAs but do not appear to influence cfDNA screening accuracy for the common autosomal trisomies or sex chromosome abnormalities.

Ultrasound in Obstetrics & Gynecology
Source: https://doi.org/10.1002/uog.23763
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