Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing.

Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a rare autosomal dominant developmental disorder associated with missense mutations in the genes ACTB or ACTG1. The classic presentation of BWCFF is discerned by the combination of unique craniofacial characteristics including ocular coloboma, intellectual disability, and hypertelorism. Congenital contractures and organ malformations are often present, including structural defects in the brain, heart, renal, and musculoskeletal system. However, there is limited documentation regarding its prenatal presentation that may encourage healthcare providers to be aware of this disorder when presented throughout pregnancy. Herein we describe a case of a pregnancy with large cystic hygroma and omphalocele. Whole exome sequencing (WES) was performed and a de novo, heterozygous, likely pathogenic mutation in ACTB was detected, c.1004G>A (p.Arg335His), conferring a diagnosis of BWCFF.

Reduction in the Cesarean Delivery Rate After Obstetric Care Consensus Guideline Implementation.

OBJECTIVE: To evaluate the rate of primary cesarean delivery after adopting labor management guidelines. METHODS: This is a before-after retrospective cohort study at a single academic center. This center adopted guidelines from the Consensus for the Prevention of the Primary Cesarean Delivery. Nulliparous women attempting vaginal delivery with viable, singleton, vertex fetuses were included. For the primary outcome of cesarean delivery rate among induced or augmented patients, 200 consecutive women managed before guideline adoption were compared with 200 similar patients afterward. Secondary outcomes of overall cesarean delivery rate, maternal morbidity, neonatal outcomes, and labor management practices were analyzed with inclusion of intervening spontaneously laboring women. RESULTS: Between September 13, 2013, and September 28, 2014, 275 women preguideline and 292 postguideline were identified to include 200 deliveries after induction or augmentation each. Among women delivering after induction or augmentation, the cesarean delivery rate decreased from 35.5% to 24.5% (odds ratio [OR] 0.59, 95% confidence interval [CI] 0.38-0.91). The overall cesarean delivery rate decreased from 26.9% to 18.8% (adjusted OR 0.59, CI 0.38-0.92). Composite maternal morbidity was reduced (adjusted OR 0.66, CI 0.46-0.94). The frequency of cesarean delivery documenting arrest of dilation at less than 6 cm decreased from 7.1% to 1.1% postguideline (n=182 and 176 preguideline and postguideline, respectively, P=.006) with no change in other indications. CONCLUSION: Postguideline, the cesarean delivery rate among nulliparous women attempting vaginal delivery was substantially reduced in association with decreased frequency in the diagnosis of arrest of dilation at less than 6 cm.

Evaluation of logistic regression reporting in current obstetrics and gynecology literature.

OBJECTIVE: To evaluate the quality of logistic regression reporting in the obstetrics and gynecology literature. METHODS: All original papers published in 2005 and 2006 in four leading obstetrics and gynecology journals were manually searched for the use of logistic regression. One hundred four articles that used logistic regression were randomly selected (13 from each journal and each year) and evaluated according to previously established criteria for reporting logistic regression analyses. Rates of compliance with these criteria were calculated separately for each journal and weighted according to the number of articles using logistic regression in each of the journals in the same period to obtain an overall estimate. RESULTS: Logistic regression was used in 34.2% of all original research articles (724 of 2,234) in the four journals for the study period. Statistical significance of estimates was reported in 96% of examined articles. Criteria of variable selection for the logistic regression model were reported in 76% of articles, and coding of variables was described in 83%. Overfitting (models with too many variables for the number of outcome events) occurred in 57% of studies. The majority of examined articles insufficiently reported information for the remaining criteria-testing for interactions (18%), conformity to a linear gradient of continuous variables (9%), goodness of fit (3.6%), assessment of multi-collinearity (0.46%), and validation of the model (0%). CONCLUSION: Logistic regression has become a standard statistical method in obstetrics and gynecology literature. Although some standards are mostly fulfilled, there is still considerable room for improvement. LEVEL OF EVIDENCE: III.