We compared the diagnostic yield of fetal clinical exome sequencing (fCES) in prospective and retrospective cohorts of pregnancies presenting with anomalies detected using ultrasound. We evaluated factors that led to a higher diagnostic efficiency, such as phenotypic category, clinical characterization, and variant analysis strategy. Methods: fCES was performed for 303 fetuses (183 ongoing and 120 ended pregnancies, in which chromosomal abnormalities had been excluded) using a trio/duo-based approach and a multistep variant analysis strategy. Results: fCES identified the underlying genetic cause in 13% (24/183) of prospective and 29% (35/120) of retrospective cases. In both cohorts, recessive heterozygous compound genotypes were not rare, and trio and simplex variant analysis strategies were complementary to achieve the highest possible diagnostic rate. Limited prenatal phenotypic information led to interpretation challenges. In 2 prospective cases, in-depth analysis allowed expansion of the spectrum of prenatal presentations for genetic syndromes associated with the SLC17A5 and CHAMP1 genes. Conclusion: fCES is diagnostically efficient in fetuses presenting with cerebral, skeletal, urinary, or multiple anomalies. The comparison between the 2 cohorts highlights the importance of providing detailed phenotypic information for better interpretation and prenatal reporting of genetic variants.
Objectives Our aim was to compare maternal and neonatal outcomes of women with a low‐risk pregnancy attending the “Cocoon,” an alongside midwifery‐led birth center and care pathway, with women with a low‐risk pregnancy attending the traditional care pathway in a tertiary care hospital in Belgium. Methods We performed a retrospective cohort study of maternal and neonatal outcomes of women with a low‐risk pregnancy who chose to adhere to the Cocoon pathway of care (n = 590) and women with a low‐risk pregnancy who chose the traditional pathway of care (n = 394) from March 1, 2014, to February 29, 2016. We performed all analyses using an intention‐to‐treat approach. Results In this setting, the cesarean birth rate was 10.3% compared with 16.0% in the traditional care pathway (adjusted odds ratios [aOR] 0.42 [95% CI 0.25‐0.69]), the induction rate was 16.3% compared with 30.5% (0.46 [0.30‐0.69]), the epidural analgesia rate was 24.9% compared with 59.1% (0.15 [0.09‐0.22]), and the episiotomy rate was 6.8% compared with 14.5% (0.31 [0.17‐0.56]). There was no increase in adverse neonatal outcomes. Intrapartum and postpartum transfer rates to the traditional pathway of care were 21.1% and 7.1%, respectively. Conclusions Women planning their births in the midwifery‐led unit, the Cocoon, experienced fewer interventions with no increase in adverse neonatal outcomes. Our study gives initial support for the introduction of similar midwifery‐led care pathways in other hospitals in Belgium.
Background In April 2012 our institution chose to switch from a two- step criteria for Gestational Diabetes Mellitus (GDM) screening, to the International Association of Diabetes in Pregnancy Study Group (IADSPG) criteria. This shift led to an increased prevalence of GDM in our pregnant population. We designed a study in order to estimate the magnitude of the increase in GDM prevalence before and after the switch in screening strategy. As a secondary objective we wanted to evaluate if there was a significant difference between the two periods in the percentage of maternal and neonatal complications such as gestational hypertensive disorders (GHD), primary cesarean section (pCS), preterm birth, large for gestational age (LGA) newborns, macrosomia, shoulder dystocia, 5′ Apgar score less than to 7 at birth, neonatal intensive care unit (NICU) transfer and neonatal hypoglycemia. Methods We selected retrospectively 3496 patients who delivered between January 2009 and December 2011 who were screened with the two-step criteria (group A), and compared them to 2555 patients who delivered between January 2013 and December 2014 and who were screened with IADPSG criteria (Group B). We checked patients’ electronic files to establish GDM status, baseline characteristics (age, body mass index, nationality, parity) and the presence of maternal and neonatal complications. Results GDM prevalence increased significantly from group A (3.4%; 95%CI 2.8–4.06%) to group B (16.28%; 95%CI 14.8 -17.7%). In group B there were significantly more non-Belgian and primiparous patients. There was no statistically significant difference in maternal and neonatal complications between the two groups, even after adjustment for nationality and parity. There was a non-significant reduction of the proportion of macrosomic and of LGA babies. Conclusions In our population the introduction of IADPSG screening criteria has increased the prevalence of GDM without having a statistically significant impact on pregnancy outcomes.
Background: The incidence of breech presentation in single pregnancies at term is between three to 5 %. In order to support eligible women in their choice of mode of delivery, a dedicated breech clinic with a care pathway was developed in December 2015 in a tertiary referral centre in Brussels. The primary objective of this study was to evaluate the vaginal birth rate before and after the introduction of a dedicated breech clinic. The secondary objective was to compare the early neonatal outcomes before and after the breech clinic was introduced. Methods: This was a single centre retrospective and prospective study. The inclusion criteria were term (from 37 weeks), singleton fetus and breech presentation at delivery. The exclusion criteria were suspected intrauterine growth restriction, severe fetal malformations and intrauterine fetal demise. We used a composite outcome as an indicator of neonatal morbidity and mortality. Results: After the introduction of the breech clinic, we observed a significant increase in planned vaginal delivery from 7.4% (12/162) to 53.0% (61/115) (OR: 13.5; 95% CI: 6.7-27.0). The effective vaginal breech delivery rate (planned and unexpected) significantly increased from 4.3% (7/162) pre-implementation of breech clinic to 43.5% (50/115) post-implementation (OR: 17.0; 95% CI: 7.3-39.6). Neonatal outcomes were not statistically different between the before and after periods. Conclusion: The introduction of a dedicated breech clinic has led to an increase in vaginal deliveries for breech babies without adversely affecting neonatal outcomes.
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