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- W4386633997 abstract "To compare actual patient referrals for post-screen diagnostic tests following First Trimester Screening (FTS) vs same-day cell-free DNA (cfDNA). Retrospective analysis of all patients with singleton gestations who elected to have concurrent cfDNA at time of routine FTS at our ultrasound unit between January–December 2015. FTS included nuchal translucency (NT) and serum markers and was considered high risk if NT>3 mm or if combined risk was higher than 1:300 for T21 or 1:150 for T13/18. High risk cfDNA screen included samples with increased risk for T21, T18, T13, 45X0 and sex chromosome trisomies or if no results could be reported. Groups were compared for patients gestational and screen characteristics and for rate of high risk results. p < 0.05 was considered significant. 3019 had concurrent FTS and cfDNA. Mean maternal age was 32.3 (17–46) and mean gestational age was 12w4d ± 4d. 265/3,019 (8.8%) women received a high risk result and were referred for counselling. 136 (4.5%) had high risk FTS (113xT21, 9xT13/18, 14xNT >3) compared to 143 (4.7%) who had high-risk cfDNA (7xT21, 4xT13, 2xT18, 3xX0, 5 sex trisomies and 122 with no results) (p = 0.66). 14 (0.4%) had both tests positive. The median fetal fraction was 6.7% for high risk patients vs 9.2% for all samples (p < 0.001). Additionally, more high risk samples (161/265, 60.8%) had fetal fraction <8% compared to low risk samples (415/2550, 16.2%, p < 0.05). For 122/3,019 (4.0%), cfDNA yielded no results. Redraw was performed in 78 (63%) and complete report was given to 43 (35%). Ultimately, 79 (2.6%) women had high risk cfDNA for which diagnostic testing was recommended vs 136 (4.5%) high risk after FTS (p < 0.001). Adding cfDNA to FTS on the same day doubles the high risk results rate. Only following a redraw, fewer women who choose cfDNA in first trimester would be offered diagnostic testing after the screen. The advantage of cfDNA over FTS in lowering invasive testing when done in first trimester may be less prominent than expected." @default.
- W4386633997 created "2023-09-13" @default.
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- W4386633997 date "2016-09-01" @default.
- W4386633997 modified "2023-10-18" @default.
- W4386633997 title "P01.04: Actual rates of referral for diagnostic testing following aneuploidy screen by first trimester screening versus cell‐free <scp>DNA</scp> done on the same day" @default.
- W4386633997 doi "https://doi.org/10.1002/uog.16498" @default.
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