Objective: Large deletions and duplications account for 65%–80% of pathogenic Duchenne muscular dystrophy (DMD) variants. A nationwide carrier screening for DMD was initiated in Israel in 2020. We assessed the carrier rate and spectrum of variants detected in a cohort of women screened for DMD carrier status and analyzed screening efficacy and challenges related to DMD population screening.Methods: A cohort of 12,362 women were tested at a single institute using multiplex ligation‐dependent probe amplification based copy number analysis of the 79 DMD exons. Consecutive sequencing of the primer region was performed when a single exon deletion was suspected.Results: Deletions involving multiple exons were detected in seven cases and duplications involving multiple exons were found in four. Of these, nine were pathogenic based on previous reports and familial segregation testing, translating to a carrier rate of 1:1374. A family history was reported in three cases. Single exon deletions were suspected in 81 cases; further sequencing detected a single nucleotide variant affecting probe hybridization. These cases clustered according to ethnic origin.Discussion: Population screening for DMD has a significant yield. Most carriers did not report a family history of dystrophinopathies. Screening should be adjusted for methodological limitations. Some cases may require extensive genetic counseling and work‐up.

Objective: To evaluate potential risk factors for retained placenta in a first pregnancy.Method: This retrospective case–control study included all primigravida with a singleton, live, vaginal birth at 24 weeks or later, at a tertiary hospital, 2014–2020. The cohort was divided into those with retained placenta versus controls. Retained placenta was defined as the need for manual extraction of the placenta or portions of it, immediately postpartum. Maternal and delivery characteristics, and obstetric and neonatal adverse outcomes, were compared between groups. Multivariable regression was performed to reveal potential risk factors for retained placenta.Results: Among 10 796 women, 435 (4.0%) had retained placenta and 10 361 (96.0%) controls did not. Multivariable logistic regression revealed nine potential risk factors for retained placenta: abruption (adjusted odds ratio [aOR] 3.58, 95% confidence interval [CI] 2.36–5.43), hypertensive disorders (aOR 1.74, 95% CI 1.17–2.57), prematurity (<37 weeks, aOR 1.63, 95% CI 1.13–2.35), maternal age older than 30 years (aOR 1.55, 95% CI 1.27–1.90), intrapartum fever (aOR 1.48, 95% CI 1.03–2.11), lateral placentation (aOR 1.39, 95% CI 1.01–1.91), oxytocin administration (aOR 1.39, 95% CI 1.11–1.74), diabetes mellitus (aOR 1.35, 95% CI 1.01–1.79), and female fetus (aOR 1.26, 95% CI 1.03–1.53).Conclusion: Retained placentas in first deliveries are associated with obstetric risk factors, some of which could be related to abnormal placentation.

Clinical estimation of fetal weight is an integral component of obstetric care that might dictate the timing and mode of delivery. Inaccurate fetal weight estimation might result in unnecessary interventions or in underestimating potential risks, resulting in inappropriate intrapartum care. This retrospective study assessed factors associated with under- or overestimation of birthweight and evaluated the obstetric implications. It included singleton births ≥24 w with clinically estimated fetal weight (EFW) up to 1 week before delivery, during 2014–2020. Estimates >±10% of the actual birthweight were considered inaccurate and categorized as overestimation (>10% heavier than the actual birthweight) or underestimation (>10% smaller than the birthweight). Multivariable logistic regression was performed to reveal factors associated with inaccurate EFW. Maternal characteristics and obstetric outcomes were compared. The primary outcomes for the overestimation group were the neonatal composite adverse outcome, induction of labor and cesarean delivery rates. The primary outcomes for the underestimation group were rates of shoulder dystocia, 3rd- or 4th-degree perineal lacerations, and failed vacuum extraction. Among 38,615 EFW, 5172 (13.4%) were underestimated, 6695 (17.3%) were overestimated and 27,648 (69.3%) accurate. Multivariable logistic regression found increasing gestational age as an independent risk-factor for underestimation (odds ratio (OR) 1.15 for every additional week, 95% confidence interval (CI) 1.12–1.2). Major factors independently associated with overestimation were nulliparity (OR 1.95, CI 1.76–2.16), maternal obesity (OR 1.52, CI 1.33–1.74), smoking (OR 1.6, CI 1.33–1.93), and oligohydramnios (OR 1.92, CI 1.47–2.5). Underestimation was an independent risk-factor for shoulder dystocia (OR 1.61, CI 1.05–2.46) and 3rd- or 4th-degree perineal lacerations (OR 1.59, CI 1.05–2.43). Overestimation was an independent risk-factor for neonatal composite adverse outcome (OR 1.15, CI 1.02–1.3), induced labor (OR 1.30, CI 1.21–1.40) and cesarean delivery (OR 1.59, CI 1.41–1.79). Clinicians should be aware of factors and adverse obstetric implications associated with over- or underestimation of birthweight.

Objective: To characterize obstetric outcomes and the association with umbilical cord (UC) complications among women complaining of reduced fetal movements (RFMs).Methods: This retrospective cohort compared women with a perception of RFMs within 2 weeks prior to delivery with women who reported no changes in fetal movements in terms of maternal characteristics and neonatal outcomes. A primary outcome of UC complications at delivery was defined. Multivariable regression analysis was performed to identify independent associations with RFMs and UC complications.Results: In all, 46 103 women were included, 2591 (5.6%) of whom reported RFMs and 43 512 (94.4%) in the control group. Compared with controls, the RFM group was more likely to be nulliparous (42.6% vs 32.2%, P < 0.001), smokers (6.4% vs 5.4%, P = 0.029), or obese (body mass index >30) (16.4% vs 11.6%, P < 0.001). They were also more likely to have an anterior placenta (56.2% vs 51.8%, P < 0.001) and poly/oligohydramnios (0.7% vs 0.4%, P = 0.015 and 3.6% vs 2.1%, P < 0.001, respectively). Induction of labor was more common in the RFM group (33.9% vs 19.7%, P < 0.001), as well as meconium (16.8% vs 15.0%, P = 0.026) and vacuum extractions (10.1% vs 8.0%, P < 0.001). Higher rates of stillbirth and the severe composite neonatal outcome were observed in the RFM group (1.5% vs 0.2%, P < 0.001 and 0.6% vs 0.3%, P = 0.010, respectively). The RFM group was characterized by higher rates of triple nuchal cord (P = 0.015), UC around body or neck (32.2% vs 29.6%, P = 0.010), and true knot (2.3% vs 1.4%, P = 0.002). Multivariable logistic regression found RFMs to be independently associated with triple nuchal cord and with a true cord knot. A sub‐analysis including only cases of stillbirth (n = 127) revealed even higher rates of UC complications: 7% of all stillbirths presented with a true cord knot (20% true knots were found in stillbirths preceded by RFMs vs 6.1% in stillbirth cases without RFMs). Additionally, 33.8% of all stillbirths presented with nuchal cord (40% preceded by RFMs vs 33.3% without RFMs).Conclusions: RFMs are associated with increased risk of UC complications observed at delivery, as well as increased risk of stillbirth and neonatal adverse outcomes.

Several reports regarding the effects of thin meconium on maternal and neonatal outcomes are contradictory. This study evaluated the risk factors and obstetrical outcomes during deliveries complicated with thin meconium. This retrospective cohort study included all women with a singleton pregnancy, who underwent trial of labor >24 weeks of gestation, in a single tertiary center, over a six-year period. Obstetrical, delivery, and neonatal outcomes were compared between deliveries with thin meconium (thin meconium group) to deliveries with clear amniotic fluid (control group). Included in the study were 31,536 deliveries. Among them 1946 (6.2%) were in the thin meconium group and 29,590 (93.8%) were controls. Meconium aspiration syndrome was diagnosed in eight neonates in the thin meconium group and in none of the controls (0.41%, p < 0.001). In multivariate logistic regression analysis, the following adverse outcomes were found to be independently associated with increased odds ratio (OR) for thin meconium: intrapartum fever (OR 1.37, 95% CI 1.1–1.7), instrumental delivery (OR 1.26, 95% CI 1.09–1.46), cesarean delivery for non-reassuring fetal heart rate (OR 2.0, 95% CI 1.68–2.46), and respiratory distress requiring mechanical ventilation (OR 2.06, 95% CI 1.19–3.56). Thin meconium was associated with adverse obstetrical, delivery, and neonatal outcomes that should receive extra neonatal care and alert the pediatrician.