Uterine fibroids and non-informative cell-free DNA screening results.

OBJECTIVE: Uterine fibroids are monoclonal tumors, which are often genetically abnormal and associated with false-positive genome-wide cell-free DNA (cfDNA) screening results, particularly when large. It is plausible that fibroids may also increase the risk of cfDNA failure by affecting fetal fraction or due to their genetic anomalies confounding cfDNA algorithms. We aimed to investigate a possible association between fibroids and cfDNA non-informative results. METHODS: This was a retrospective cohort study of women undergoing cfDNA screening for fetal chromosomal abnormalities between 2013 and 2020, comparing pregnancies with vs without uterine fibroids recorded on any obstetric ultrasound before 24 weeks' gestation. Univariable and multivariable logistic regression models were used to investigate the association between fibroids and cfDNA failure, adjusting for gestational age, maternal age, weight and height at blood sampling, mode of conception, multiple gestation and test platform (chromosome-selective or genome-wide). Analyses were stratified according to the number of fibroids and total fibroid volume. The impact of fibroids on fetal fraction was assessed using linear regression, adjusting for the same covariates. RESULTS: Among 19 818 pregnancies undergoing cfDNA screening, fibroids were reported in 2038 (10.28%) and cfDNA failure at the first screening attempt occurred in 228 (1.15%) pregnancies. Non-informative results occurred in 1.96% of pregnancies with fibroids and 1.06% of pregnancies without fibroids (adjusted odds ratio (aOR), 2.40 (95% CI, 1.65-3.48)). The risk of failure in the first screening attempt increased progressively with the number of fibroids (aOR, 5.05 (95% CI, 2.29-11.13) in women with four or more fibroids) and total fibroid volume, with greater than a 5-fold and 14-fold increase in risk among women with fibroid volumes of 100.1-400 mL (aOR, 5.52 (95% CI, 2.30-13.25)) and > 400 mL (aOR, 14.80 (95% CI, 4.50-48.69)), respectively. Although test failure was more common with chromosome-selective than genome-wide screening, fibroids similarly increased the risk of failure of both screening platforms. Compared to pregnancies without fibroids, those with fibroids had a fetal fraction on average 0.61% lower (adjusted mean difference, -0.61% (95% CI, -0.77% to -0.45%)). CONCLUSION: Uterine fibroids are associated with lower fetal fraction and an increased risk of cfDNA screening failure. The strength of this association increases with increasing fibroid number and volume. © 2024 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Comparison of management regimens following ultrasound diagnosis of nontubal ectopic pregnancies: a retrospective cohort study.

OBJECTIVE: To review management options for nontubal ectopic pregnancies. DESIGN: Retrospective cohort study. SETTING: Tertiary hospital in Melbourne, Australia. POPULATION: A total of 100 nontubal pregnancies: 1 abdominal, 32 caesarean scar, 14 cervical, 41 cornual-interstitial, 12 ovarian. METHODS: Cases were classified according to ectopic site. Management categories were medical, surgical, combination or expectant. Use of minimally invasive approaches (ultrasound-guided intra-sac injections or selective surgical techniques) was identified. Primary management was considered to be successful if no further unplanned interventions were required. MAIN OUTCOME MEASURES: Success of primary management and frequency of unplanned interventions. RESULTS: A high rate of success (82%) was demonstrated for all management regimens, with minimal morbidity and no deaths occurring. A high success rate was shown when the primary management regimen was systemic methotrexate or ultrasound-guided intra-sac injection (88%). The success rate for primary surgical management was 57%. High success rates were reported for both primary management with ultrasound-guided injections or in combination with systemic methotrexate (94%) and for primary management with systemic methotrexate alone (81%). Seventy-five per cent of women managed with minimally invasive surgical approaches avoided the need for more extensive surgery, but required longer follow up and additional interventions. CONCLUSION: Minimally invasive approaches were found to be safe and effective treatment for women desiring to conserve fertility. Ultrasound-guided intra-sac injection and laparoscopic ectopic removal procedures aimed at preserving reproductive organs should be included as minimally invasive primary management tools in addition to the well-recognised option of systemic methotrexate. TWEETABLE ABSTRACT: Nontubal ectopics: minimally invasive procedures a safe alternative to surgery in selected cases.