Fetal skeletal dysplasias are a heterogeneous group of rare genetic disorders, affecting approximately 2.4-4.5 of 10,000 births. We performed a retrospective review of the perinatal autopsies conducted between the years 2002-2011 at our center. The study population consisted of fetuses diagnosed with skeletal dysplasia with subsequent termination, stillbirth and live-born who died shortly after birth. Of the 2002 autopsies performed, 112 (5.6%) were diagnosed with skeletal dysplasia. These 112 cases encompassed 17 of 40 groups of Nosology 2010. The two most common Nosology groups were osteogenesis imperfecta [OI, 27/112 (24%)] and the fibroblast growth factor receptor type 3 (FGFR3) chondrodysplasias [27/112 (24%)]. The most common specific diagnoses were thanatophoric dysplasia (TD) type 1 [20 (17.9%)], and OI type 2 [20 (17.9%)]. The combined radiology, pathology, and genetic investigations and grouping the cases using Nosology 2010 resulted in a specific diagnosis in 96 of 112 cases.

At present, the detection rate of TLD by ultrasound is low but may be increased by modified brain images that enhance visualization of the temporal lobes. Prenatal identification of TLD may help in the prenatal diagnosis of TD and thus provide more accurate prenatal counseling and guide molecular investigations to confirm the specific diagnosis of TD.

Objective To assess cervical dilation, fetal head station, and fetal head position by intrapartum ultrasonography and to compare the approach with digital vaginal examination (DVE). Methods An observational study conducted from October 2015 to January 2017 among term nulliparous women in active labor at a tertiary hospital in Delhi, India. Cervical dilation, head station, and head position were assessed by DVE, followed by ultrasonography within 10 minutes. The women's preference was also evaluated. Results Overall, 458 observations were obtained for 215 women. Cervical dilation measured by DVE was strongly correlated with ultrasonography findings (intraclass correlation coefficient, 0.945; 95% confidence interval, 0.932–0.956; κ=0.837; P<0.001). Data for fetal head station and head position showed a fair correlation (κ=0.353 and κ=0.554, respectively; both P<0.001). The majority of women (186/215, 87%) reported a preference for ultrasonography over DVE for assessment of labor progression in a future pregnancy. Conclusion Intrapartum ultrasonography was preferred as an objective assessment tool for labor progression among term nulliparous women and therefore should be practiced in all labor rooms. Further studies on interobserver variation are recommended to establish the reproducibility of intrapartum assessment by ultrasonography.

A rare case of idiopathic massive osteolysis involving cranial bone is reported. Radiological and computed tomographic findings are discussed, along with a brief review of the literature.

Aim and Objectives: To know the prevalence and etiological types of heart disease in pregnant female and to describe the foetal and maternal outcome. Methodology: A retrospective hospital based study of all women with congenital or acquired heart disease admitted in Safdarjung hospital in 2016 was performed. The etiological type of heart disease and maternal and neonatal outcome were evaluated. Results: Median age of all the patients enrolled was 25yrs (19yrs–31yrs) which included mostly multigravida with POG from 28 to 41 weeks of gestation. Among all the patients 62% were unbooked. Rheumatic heart disease was most prevalent followed by congenital heart disease (13.6%) and Cardiomyopathy (13.7%). It was also found in the study that Instrumental Vaginal delivery was the preferred method. The fetal outcome was also evaluated and it was found that Pre term delivery, Low Birth weight and IUGR were main complications found in the mothers with heart disease which resulted in 27% NICU admissions and 5.1% neonatal mortality. Conclusion: Cardiac lesions and pregnancy both may affect each other adversely. Joint care of obstetrician, cardiologist and anesthetist, avoidance of complications that add to the burden on the heart and compliance of the patient and her family to regular follow up will go a long way in ensuing a safe outcome for mother and fetus.