Impact of a quality improvement project to reduce the rate of obstetric anal sphincter injury: a multicentre study with a stepped-wedge design

Objective To evaluate the impact of a care bundle (antenatal information to women, manual perineal protection and mediolateral episiotomy when indicated) on obstetric anal sphincter injury (OASI) rates. Design Multicentre stepped‐wedge cluster design. Setting Sixteen maternity units located in four regions across England, Scotland and Wales. Population Women with singleton live births between October 2016 and March 2018. Methods Stepwise region by region roll‐out every 3 months starting January 2017. The four maternity units in a region started at the same time. Multi‐level logistic regression was used to estimate the impact of the care bundle, adjusting for time trend and case‐mix factors (age, ethnicity, body mass index, parity, birthweight and mode of birth). Main outcome measures Obstetric anal sphincter injury in singleton live vaginal births. Results A total of 55 060 singleton live vaginal births were included (79% spontaneous and 21% operative). Median maternal age was 30 years (interquartile range 26–34 years) and 46% of women were primiparous. The OASI rate decreased from 3.3% before to 3.0% after care bundle implementation (adjusted odds ratio 0.80, 95% CI 0.65–0.98, P = 0.03). There was no evidence that the effect of the care bundle differed according to parity (P = 0.77) or mode of birth (P = 0.31). There were no significant changes in caesarean section (P = 0.19) or episiotomy rates (P = 0.16) during the study period. Conclusions The implementation of this care bundle reduced OASI rates without affecting caesarean section rates or episiotomy use. These findings demonstrate its potential for reducing perineal trauma during childbirth

Phenotypic spectrum associated with SPECC1L pathogenic variants:new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes

The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls cranial neural crest cell delamination during facial morphogenesis. SPECC1L causative variants were first identified in individuals with oblique facial clefts. Recently, causative variants in SPECC1L were reported in a pedigree reported in 1988 as atypical Opitz GBBB syndrome. Six families with SPECC1L variants have been reported thus far. We report here eight further pedigrees with SPECC1L variants, including a three-generation family, and a further individual of a previously published family. We discuss the nosology of Teebi and GBBB, and the syndromes related to SPECC1L variants. Although the phenotype of individuals with SPECC1L mutations shows overlap with Opitz syndrome in its craniofacial anomalies, the canonical laryngeal malformations and male genital anomalies are not observed. Instead, individuals with SPECCL1 variants have branchial fistulae, omphalocele, diaphragmatic hernias, and uterus didelphis. We also point to the clinical overlap of SPECC1L syndrome with mild Baraitser-Winter craniofrontofacial syndrome: they share similar dysmorphic features (wide, short nose with a large tip, cleft lip and palate, blepharoptosis, retrognathia, and craniosynostosis), although intellectual disability, neuronal migration defect, and muscular problems remain largely specific to Baraitser-Winter syndrome. In conclusion, we suggest that patients with pathogenic variants in SPECC1L should not be described as "dominant (or type 2) Opitz GBBB syndrome", and instead should be referred to as "SPECC1L syndrome" as both disorders show distinctive, non overlapping developmental anomalies beyond facial communalities