Prenatal diagnosis of femoral facial syndrome: Three case reports and literature review.

Facial femoral syndrome (FFS) is a rare congenital abnormality, also known as femoral hypoplasia-unusual facies syndrome, characterized by variable degrees of femoral hypoplasia, associated with specific facial features. Other organ malformations are sometimes present. Most cases are sporadic, but rare family observations suggest genetic origin. However, no chromosomal or genetic abnormalities have ever been incriminated. We conducted a comprehensive literature review and added three new unreported observations. Through these 92 cases, authors aimed to determine sonographic signs that should direct towards diagnosis, and discuss potential genetic etiology. Diagnosis was suspected prenatally in 27.2% of cases, and maternal diabetes was found in 42.4% of patients. When fetal karyotype was available, it was normal in 97.1% of cases, but genomic variations of unknown significance were discovered in all three cases in which array comparative genomic hybridization (CGH) techniques were applied. Femoral affection defining FFS was hypoplasia in 78.3% of cases, agenesis in 12%, and both in 9.8%. Affection was bilateral in 84.8% of cases. Retrognathia was present in 65.2% of cases, cleft lip and/or palate in 63%, and other organ malformations in 53.3%. Intellectual development was normal in 79.2% of cases. Better prenatal recognition of this pathology, notably frequently associated malformations, should lead to a more precise estimation of functional prognosis. It seems likely that today's tendency to systematically employ array-CGH and exome/genome sequencing methods to investigate malformative sequences will allow the identification of a causal genetic abnormality in the near future.

A predictive neonatal mortality score for women with premature rupture of membranes after 22-27 weeks of gestation.

OBJECTIVE: Premature rupture of the membranes (PROM) remains a leading cause of neonatal morbidity. The objectives of the present study were to analyze the outcomes of pregnancies complicated by PROM between 22 and 27+6 weeks of gestation (WG) and to study antepartum risk factors that might predict neonatal death. PATIENTS AND METHODS: One hundred and seven pregnancies were analyzed over a 3-year period in a tertiary maternity hospital. The collected maternal and neonatal data were used to model and predict the outcome of PROM. RESULTS: Prevalence of PROM (for live births) was 1.08%, and the overall survival rate was 59.8%. From preselected candidate variables, gestational age (GA) at PROM (p = .0002), a positive vaginal culture for pathogenic bacteria (p = .01), primiparity (p = .02), and the quantity of amniotic fluid (p = .03) were included in a multivariable logistic regression analysis. The corresponding adjusted odds ratios [95% confidence interval] were, respectively, 0.91 [0.87-0.96], 11.08 [1.65-74.42], 0.55 [0.33-0.91], and 0.97 [0.95-0.99]. These parameters were used to build a predictive score for neonatal death. CONCLUSIONS: The survival rate after PROM at 22-27+6 weeks of gestation was 59.8%. Our predictive model (built using multivariable logistic regression) may be of value for obstetricians and neonatologists counseling couples after PROM.