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.

Correlation of lateral placental location with development of preeclampsia

Background: Preeclampsia is a complex clinical syndrome which involves multiple organ systems and remains the principle cause of maternal and perinatal morbidity and mortality. Preeclampsia is a disease of trophoblastic tissue. Placental abnormality is one of the initial events in patients who are destined to develop pregnancy induced hypertension subsequently. Objective of this study was to evaluate the association of laterally located placenta on ultrasound with development of preeclampsia.Methods: This prospective observational study was conducted on 200 antenatal women with singleton pregnancy at 18-24 weeks of gestation who attended antenatal clinic of obstetrics and gynaecology, PGIMS Rohtak from October 2017 to October 2018. Detailed antenatal transabdominal ultrasound along with placental location was done between 18-24 weeks of gestation in women who fitted into inclusion criteria. All the antenatal women belonged to 18-24 weeks of gestation were included in the study except those women with chronic hypertension, diabetes mellitus, renal disease, severe anaemia, thyrotoxicosis, low lying placenta, previous history of preeclampsia or eclampsia.Results: Out of 200 antenatal women, 84 had lateral placenta while 116 had central placenta. Out of these 84 women who had lateral placenta, 55 women (65.5%) developed preeclampsia and out of 116 (58%) women who had central placenta, 28 women (24.1%) developed preeclampsia.Conclusions: From the above study, we concluded that women with laterally located placenta by ultrasound at 18-24 weeks of gestation have greater risk of developing preeclampsia.

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.

Potter’s syndrome: a case report

Potter’s syndrome is a rare congenital disorder characterized by characteristic atypical appearance of a newborn due to the oligohydroamnios experienced during the intrauterine life. Its incidence varies from 1 in 2000 to 1 in 5000. 40 years old G7P4L1 A2 at 37 weeks of period of gestation was admitted at a tertiary care institute with labour pains. Her previous obstetric history included three full term vaginal deliveries, two of the babies expired in postnatal period of 2 months and 7 days age respectively. One was alive and healthy. In fourth pregnancy she underwent emergency LSCS, but baby expired 5 months after birth. She had history of 2 abortions which were spontaneous and not followed by curettage. She also gave history of intake of some drugs at 6th week of gestation prescribed by a local Baba to have a male child. Her ultrasonography revealed fetus with bilateral renal agenesis. On per abdomen examination, clinically liquor was very much reduced, Fetal heart sounds were not heard. She delivered vaginally a still born fetus with ambiguous genitalia, anal atresia and malformed limbs. The fetus had typical facial appearance of “potter facies”. Potter’s Syndrome or Sequence is a rare fatal disorder. Apart from typical Potter’s facies, pulmonary hypoplasia, skeletal deformities are associated with this condition, severity depends on the degree and duration of oligohydramnios. Therefore, it is very important to pick up this condition during antenatal ultrasound at earlier gestation so that timely decision regarding further workup and pregnancy termination can be undertaken. This case report emphasizes upon the importance of regular antenatal check ups and examination in each and every patient as it picks up the suspicious cases which can lead to further workup, definite diagnosis of the condition and timely decision regarding management.