Optical genome mapping for prenatal diagnosis: A prospective study.

PURPOSE: Cytogenetic analysis provides important information for prenatal decision-making and genetic counseling. Optical genome mapping (OGM) has demonstrated its performances in retrospective studies. In our prospective study, we assessed the quality of DNA obtained from cultures of amniotic fluid (AF) and chorionic villi (CV) and evaluated the ability of OGM to detect all clinically relevant aberrations identified by standard methods. METHODS: A total of 37 prenatal samples from pregnancies with a fetal anomaly on ultrasound were analyzed prospectively by OGM between January 1, 2021 and June 31, 2022. OGM results were interpreted blindly and compared to the results obtained by standard techniques. RESULTS: OGM results were interpretable in 92% of samples. We observed 100% concordance between OGM and karyotype and/or chromosomal microarray results. In addition, OGM identified a median of 30 small (<100 kb) structural variations per case with the involvement of 12 OMIM genes, of which 3 were OMIM morbid genes. CONCLUSION: This prospective study showed OGM performed well in detecting genomic alterations in cell cultures from prenatal samples. The place of OGM in relation to CMA or exome sequencing remains to be defined in order to optimize the prenatal diagnostic procedure.

Does the type of pushing at delivery influence pelvic floor function at 2 months postpartum? A pragmatic randomized trial-The EOLE study.

INTRODUCTION: Maternal pushing techniques during the second stage of labor may affect women's pelvic floor function. Our main objective was to assess the impact of the type of pushing used at delivery on the mother's medium-term pelvic floor function. MATERIAL AND METHODS: This is a secondary analysis of a randomized clinical trial (clinicaltrials.gov: NCT02474745) that took place in four French hospitals from 2015 through 2017 (n = 250). Women in labor with a singleton fetus in cephalic presentation at term who had undergone standardized training in both of these types of pushing were randomized after cervical dilation ≥7 cm. The exclusion criteria were a previous cesarean, a cesarean delivery in this pregnancy or a fetal heart rate anomaly. In the intervention group, open-glottis (OG) pushing was defined as a prolonged exhalation contracting the abdominal muscles to help move the fetus down the birth canal. Closed-glottis (CG) pushing was defined as Valsalva pushing. The principal outcome was the stage of pelvic organ prolapse (POP) assessed by the Pelvic Organ Prolapse-Quantification 2 months after delivery. A secondary outcome was incidence of urinary incontinence (UI). The results of our multivariable, modified intention-to-treat analysis are reported as crude relative risks (RRs) with their 95% confidence intervals. RESULTS: Our analysis included 207 women. Mode of birth was similar in both groups. The two groups did not differ for stage II POP: 10 of 104 (9.4%) in the OG group compared with 7 of 98 (7.1%) in the CG group, for a RR 1.32, 95% confidence interval [CI] 0.52-3.33, and an adjusted RR of 1.22, 95% CI 0.42-3.6. Similarly, the incidence of UI did not differ: 26.7% in the OG group and 28.6% in the CG group (aRR 0.81, 95% CI 0.42-1.53). Subgroup analysis suggests that for secundiparous and multiparous women, OG pushing could have a protective effect on the occurrence of UI (RR 0.33, 95% CI 0.13-0.80). CONCLUSIONS: The type of directed pushing used at delivery did not impact the occurrence of pelvic organ prolapse 2 months after delivery. OG pushing may have a protective effect against UI among secundiparous and multiparous women.

Double Balloon Catheter (Plus Oxytocin) versus Dinoprostone Vaginal Insert for Term Rupture of Membranes: A Randomized Controlled Trial (RUBAPRO).

Background: The aim of this study is to demonstrate that a double balloon catheter combined with oxytocin decreases time between induction of labor and delivery (TID) as compared to a vaginal dinoprostone insert in cases of premature rupture of membranes at term. Methods: This is a prospective, randomized, controlled trial including patient undergoing labor induction for PROM at term with an unfavorable cervix in Clermont-Ferrand university hospital. We compared the double balloon catheter over a period of 12 h with adjunction of oxytocin 6 h after catheter insertion versus dinoprostone vaginal insert. After device ablation, cervical ripening continued only with oxytocin. The main outcome was TID. Secondary outcomes concerned delivery mode, as well as maternal and fetal outcome, and were adjusted for parity. Results: 40 patients per group were randomized. Each group had similar baseline characteristics. The study failed to demonstrate reduced TID (16.2 versus 20.2 h, ES = 0.16 (−0.27 to 0.60), p = 0.12) in the catheter group versus dinoprostone except in nulliparous women (17.0 versus 26.5 h, ES = 0.62 (0.10 to 1.14), p = 0.006). The rate of vaginal delivery <24 h significantly increased with combined induction (88.5% versus 66.6%, p = 0.03). No statistical difference was observed concerning caesarean rate (12.5% versus 17.5%, p > 0.05), chorioamnionitis (0% versus 2.5%, p = 1), postpartum endometritis, or maternal or neonatal outcomes. Procedure-related pain and tolerance to devices were found to be similar for the two methods. Interpretation: The double balloon catheter combined with oxytocin is an alternative for cervical ripening in case of PROM at term, and may reduce TID in nulliparous women.

Management of monoamniotic twin pregnancies: Where, when, how?

Management difficulties for monochorionic monoamniotic (MCMA) twin pregnancy reflect the absence of high-quality research into optimal types of monitoring, essential as MCMA twins have a high risk of intrauterine and neonatal death with perinatal mortality. D'Antonio et al's meta-analysis and the MonoMono study published in 2019, investigated the impact of monitoring location, out- or in-patient, of MCMA pregnancies and concluded that no specific management location is associated with improvement in prognosis. To evaluate the optimal timing for delivery of MCMA pregnancies, Van Mieghem and Chitrit carried out retrospective studies comparing gestational age of intrauterine death and risk of neonatal complication. The crossover point between the propective risk of intrauterine fetal death and neonatal complication was found at 32,33 weeks of gestation (WG), in accordance with American College of Obstetricians and Gynecologists and Royal College of Obstetricians and Gynaecologists recommendations but inclusion of complicated pregnancies and analysis of fetuses individually may be regarded as a bias. The majority of studies of MCMA pregnancies focused on elective scheduled cesareans, with only rare retrospective studies reporting on vaginal delivery. Of these, two recent studies carried out by French teams suggest that vaginal deliveries may be as safe as cesarean births for MCMA twin pregnancies when specific criteria are met. In summary, concerning MCMA pregnancies, prognosis is not found to improve with inpatient management, optimal timing for delivery is at approximately 33 GW and vaginal delivery should not be excluded.

Induction of labour in case of premature rupture of membranes at term with an unfavourable cervix: protocol for a randomised controlled trial comparing double balloon catheter (+oxytocin) and vaginal prostaglandin (RUBAPRO) treatments.

INTRODUCTION: Premature rupture of membranes (PROM) occurs at term in 8% of pregnancies. Several studies have demonstrated that the risk of chorioamnionitis and neonatal sepsis increases with duration of PROM. Decreasing the time interval between PROM and delivery is associated with lower rates of maternal infections. In case of an unfavourable cervix, the use of prostaglandin for cervical maturation demonstrates some advantages over oxytocin. The use of double balloon catheter in reduction of PROM duration has not been evaluated in the literature. METHODS AND ANALYSIS: We are conducting a prospective, monocentric, randomised clinical trial on pregnant women with an unfavourable cervix showing PROM at term (RUBAPRO).After 12-24 hours of PROM, women are randomly assigned to one group treated with a double balloon catheter for 12 hours, with oxytocin administered after 6 hours or to the control group treated with 24 hours of vaginal prostaglandin followed by oxytocin infusion alone. Patients (n=80) are randomised at a 1:1 ratio with stratification on parity.The inclusion criteria are a Bishop score of <6, cephalic presentation at term and confirmed PROM. Women with suspected chorioamnionitis; group B streptococcus (GBS) carrier; a history of caesarean delivery or any contraindication for vaginal delivery are excluded.The time from induction to delivery is the primary outcome. Secondary outcomes were mode of delivery, maternofetal morbidity and the effect of parity on strategies for reduction of PROM duration.To sufficiently demonstrate a difference (10 hours) between groups-with a statistical power of 90% and a two-tailed α of 5%-40 patients per group will be required. ETHICS AND DISSEMINATION: Written informed consent is required from participants.National Ethics Committee approval was obtained in August 2017. The results will be published in a peer-reviewed journal and presented at relevant conferences. Access to raw data will be available only to members of the research team. TRIAL REGISTRATION NUMBER: NCT03310333.

Long-term evaluation of painful symptoms and fertility after surgery for large rectovaginal endometriosis nodule: a retrospective study.

INTRODUCTION: Optimal surgical treatment of rectovaginal endometriosis remains a controversial topic. The objective of this study was to evaluate long-term postoperative outcomes after rectal shaving or colorectal resection for rectovaginal endometriosis. MATERIAL AND METHODS: 195 patients underwent surgery (172 managed by shaving, 23 by colorectal resection) between January 2000 and June 2013 for rectovaginal endometriosis (>2 cm) involving at least the serosa of the rectum. Primary outcome measures were pain and fertility. Secondary outcome measures were complications, recurrence rates and quality of life. RESULTS: Mean follow-up was 60 ± 42 months in the shaving group and 67 ± 47 months in the resection group. The mean VAS score for pelvic pain between the pre and postoperative period decreased from 5.5 ± 3.5 (shaving group) and 7.3 ± 2.9 (resection group) to 2.3 ± 2.4 (p < 0.001) and 2.0 ± 1.8 (p < 0.001), respectively. For dysmenorrhea, the mean baseline VAS score fell postoperatively from 7.7 ± 2.8 (shaving group) and 8.2 ± 2.6 (resection group) to 3.3 ± 2.9 (p < 0.001) and 2.7 ± 2.7 (p < 0.001), respectively. Pregnancy rates were 73% for shaving and 69% for resection. Major complications occurred in 4% of patients in the shaving group and in 26% in the resection group (p = 0.001). Thirteen patients (7.6%) from the shaving group and none from the resection group were reoperated for suspicion of endometriosis recurrence (p = 0.37). Postoperative quality of life scores revealed no differences between the two groups. CONCLUSION: Our study demonstrates that rectal shaving, when feasible for rectovaginal nodule (>2 cm) infiltrating the digestive serosa, has equal impact on pain and pregnancy rates compared with colorectal resection at long-term follow-up, with low complication and favorable pregnancy rates.