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Fetal akinesia and contractures can be caused by mutations in various genes that lead to overlapping phenotypes with contractures, rocker bottom feet, cerebellar hypoplasia, ventriculomegaly, growth retardation, pulmonary hypoplasia, cystic hygroma and cleft palate in various combinations. Cerebro‐oculo‐facio‐skeletal (COFS) syndrome is a condition resulting from defects in DNA repair pathway, and genes involved include ERCC1 (COFS), ERCC2 (XPD), ERCC5(XPG), and ERCC6 (CSB). It is a severe disorder presenting in fetal or neonatal period with microcephaly, arthrogryposis, prominent nose, and kyphoscoliosis, and leads to early death in childhood. We report a baby with antenatally identified arthrogryposis in which the homozygous pathogenic variant in exon 8 was identified in ERCC5 gene, by targeted next generation sequencing. This was predicted to cause premature chain termination in the protein. ERCC5 gene is mainly implicated in xeroderma pigmentosum, sometimes in COFS syndrome. [ABSTRACT FROM AUTHOR]

Aim: To study the blood transfusion practices in women undergoing cesarean delivery at a tertiary care centre in northern India. Methods: This was a prospective study conducted in 1769 women who underwent cesarean section at a tertiary centre hospital from May 2008 to November 2009. A comprehensive predesigned proforma was filled in for each woman. Data related to antenatal, intrapartum and postnatal events was recorded and compared between women receiving blood transfusion during cesarean section and women not receiving blood transfusion. Results: The cesarean section rate was 26% and the blood transfusion rate was 12.21%. The overall crossmatch transfusion ratio in our study was 5.46:1. After multiple regression logistic analysis factors, like placenta previa (OR 15.19, 95% CI 9.28-24.82), anemia (OR 9.93, 95% CI 5.17-19.06), blood loss >1000 mL (OR 5.97, 95% CI 4.32-8.24), abruptio (OR 4.18, 95% CI 2.02-8.62), intraoperative complications, like uterine incision extension, uterine atony, hysterectomy (OR 2.69, 95% CI 1.70-4.24), general anesthesia (2.48, 95% CI 1.70-3.61) and inadequate antenatal supervision (OR 1.59, 95% CI 1.05-2.42) were found to be significantly associated with a higher risk for blood transfusion during cesarean section. Conclusion: Routine crossmatching of blood for all women prior to cesarean section needs to be reviewed. Cesarean sections performed on women with high risk factors for blood transfusion can have sudden and significant blood loss and thus adequate blood arrangement prior to cesarean section is justified only in this group of women and not in all women. [ABSTRACT FROM AUTHOR]

Maternal and fetal morbidity of two different methods of delivering the baby during cesarean section performed in advanced labor when the fetal head is deeply engaged was assessed retrospectively, i.e. delivering as 'cephalic' with or without assistance to push up the fetal head from the vagina (head first or push method) and 'reverse breech extraction' (feet first or pull method). Records of 182 women with a single fetus in cephalic presentation, who had undergone cesarean section at cervical dilatation at ≥7 cm, with the vertex at or below zero station, were reviewed. Extension of the uterine incision occurred in significantly more women during 'cephalic' delivery as compared to 'reverse breech extraction' (22.8% versus 2.2%; p=0.001). Use of 'reverse breech extraction' is an attractive and safe alternative to the standard methods for intra-operative disengagement of a deeply impacted fetal head in order to reduce maternal and fetal morbidity. [ABSTRACT FROM AUTHOR]