Tuberous sclerosis in pregnancy: a rare genetic disease requiring multidisciplinary approach in pregnancy

Tuberous sclerosis complex (TSC) is a multisystemic, autosomal dominant genetic disorder with complete penetrance, that can evolve with hamartomas in multiple organs, such as skin, central nervous system, kidney and lung. Penetrance in genetics is the proportion of individuals carrying a particular variant (or allele) of a gene (the genotype) that also express an associated trait (the phenotype). Due to the wide phenotypic variability in TSC, the disease is often not recognized. The diagnostic criteria for tuberous sclerosis were reviewed in 2012, at the second International tuberous sclerosis complex consensus conference. The diagnosis is based on genetic criteria, by the identification of inactivating pathogenic mutation of tumour suppressor genes TSC1 and TSC2, and clinical criteria, including cutaneous, renal, pulmonary, cardiac and neurological manifestations. Authors present with a rare case report of a patient with TSC presenting at term.

Maternal and perinatal outcome in eclampsia at a tertiary care center

Background: Preeclampsia is the occurrence of hypertension in combination with proteinuria, developing after 20 weeks gestation in a previously normotensive non-proteinuric patient. The objective of this study was to study the prevalance of eclampsia at PGIMS, Rohtak. To study the clinical profile, maternal and perinatal outcome in eclamptic patients.Methods: This is a retrospective study and case records of all eclampsia cases were analysed from the study period of January 2018 to December 2018.Results: There were 113 cases of eclampsia out of 11,661 deliveries and prevalence of eclampsia was calculated to be 0.96%. Majority of the patients were not registered 95.57%. 58% of patients were Primigravidas. 56% of the patient in the age group of 21-25 years. Antepartum, intrapartum and postpartum eclampsia were 71%, 1.7% and 27% respectively. Caesarean section was the preferred mode of delivery and was performed in 57% cases. ICU admission was required in 25% and remaining cases were managed in general/eclampsia ward. All patients received MgSO4 by Zuspan regimen. 12% patient developed HELLP syndrome and pulmonary oedema developed in 6% patient. There were a total of 3.5% maternal deaths during the study period. Total percentage of perinatal deaths due to eclampsia was 23%.Conclusions: Eclampsia continues to be one of the prime etiological factors for maternal and perinatal morbidity and mortality. This is due to lack of proper antenatal care, low socioeconomic condition and lack of education. Regular antenatal checkup, early recognition and proper management are vital to tackle this challenge. MgSo4 is the anticonvulsant of choice and Zuspan regimen of MgSO4 is effective in the management of eclampsia.

Study of medical disorders in pregnancy among in patients at a tertiary care hospital in Haryana, India

Background: Pregnancy is a physiological condition in which various changes occur in pregnant women just to accommodate growing fetus. Pregnancy is a stress test for woman and may unmask certain underlying chronic diseases like, DM, hypertension which were silent or asymptomatic prior to pregnancy. This study was done to know the incidence, type and demographic profile of medical disorders in pregnancy among in patient at a tertiary care hospital.Methods: It was a retrospective study conducted on 578 patients of medical disorders in pregnancy admitted in a tertiary care hospital from January 2017 to December 2017. Data collected from record room and analysis done.Results: Total antenatal admissions were 4721. Incidence of medical disorders was 12.24%. Majority of women were in age group 20-30 years (65.5%). Low-parity (P0, P1). Hypertensive disorders in pregnancy was commonest reported disorder (42.3%), followed by hematological disorder (38.7%), liver disorder 5%, endocrine disorder 4.8%, epilepsy 3.8% and HIV 2.6% in present study.Conclusions: Hypertensive disorders were commonest medical disorder followed by hematological, liver, endocrine and epilepsy. All medical disorders in pregnancy to be managed by team approach.

Clinical study of ectopic pregnancy at tertiary care center in Haryana, India

Background: Ectopic pregnancy is a life threatening condition in the first trimester of pregnancy. Diagnosis can be done by clinical examination, serum β-HCG and ultrasonography. This retrospective study was done to know the incidence, risk factors, and management of ectopic pregnancy.Methods: It was a retrospective study conducted on 75 patients of ectopic pregnancy admitted at tertiary care hospital in Haryana from February-2017 to January-2019. Data collected from record room and analysis done.Results: Total deliveries were conducted were 5064. The incidence of ectopic pregnancy was 1.48%, majority of the women were in the age group of 21-30 (68%), multi-parous (77.32%). The most common risk factor was abortion 33.33%, f/b tubal ligation was 13.13%, medical management of ectopic pregnancy done in 30.66%, 8% were managed by laproscopically and 58.66% by laparotomy.Conclusions: Safe sexual practices can reduce pelvic infections and ectopic pregnancy incidences. Early diagnosis before tubal rupture can reduce morbidity and mortality in ectopic pregnancy.