Management of pregnant women with heart disease remains challenging due to the advancement of innovations in cardiac surgery and correction of complex cardiac anomalies, and more recently, with the successful performance of heart transplants, cardiac diseases are not only likely to coexist with pregnancy, but will also increase in frequency over the years to come. In developing countries with a higher prevalence of rheumatic fever, cardiac disease may complicate as many as 5.9% of pregnancies with a high incidence of maternal death. Since many of these deaths occur during or immediately following parturition, heart disease is of special importance to the anesthesiologist. This importance arises from the fact that drugs used for preventing or relieving pain during labor and delivery exert a major influence – for better or for worse – on the prognosis of the mother and newborn. Properly administered anesthesia and analgesia can contribute to the reduction of maternal and neonatal mortality and morbidity.

Swyer syndrome is a disorder of sex development characterized by gonadal dysgenesis in a phenotypic female with normally developed Mullerian structures but a 46XY karyotype resulting from failure of testicular development in the early embryogenesis. It can have X-linked, Y-linked, or autosomal inheritance. We had a case of two sisters who presented with primary amenorrhea and primary infertility. On investigation, both had hypergonadotropic hypogonadism, 46XY karyotype, and streak gonads. They conceived following in vitro fertilization (IVF) with ovum donation. Prophylactic gonadectomy has been done in one and advised in other due to the increased risk of gonadoblastoma which is as high as 15%–35%. Such patients should be counseled that despite hypoplastic uterus, successful pregnancy can be achieved through IVF and ovum donation.

Cardiac disease is an important cause of mortality in pregnancy. It has the potential to remain undiagnosed and may present with cardiovascular decompensation during pregnancy, at the time of delivery, or immediately postpartum. It can have long-term implications to the life of the affected women and their families. This review summarises the current knowledge of the incidence, prevalence, and management of pregnancy-related cardiovascular disease in women presenting preconceptionally or during pregnancy.

Unilateral recurrent pleural effusions are commonly encountered in critical care practice. Relevant clinical history, physical examination, radiology, and diagnostic thoracentesis usually identify the cause of pleural effusion in most cases. Thoracoscopy or video-assisted thoracic surgery may be required in selective cases. We report a case of 32-year-old female with recurrent unilateral hemorrhagic pleural effusion that was the presenting feature of thoracic endometriosis syndrome.

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Intellectual disability (ID) is still unexplained in 60% of cases and prenatal diagnosis is very challenging for this condition. A second gravida presented to us at 6 weeks of gestation for counseling. Her previous child had been diagnosed with ID and autism. Detailed family history showed that her brother also had ID. Screening investigations were normal for the affected child. Exome sequencing report revealed variation of unknown significance (VOUS) on SIN3A gene and UPF3B gene. The variation in X-linked UPF3B gene was reclassified as novel pathogenic variation after segregation studies with parents and affected maternal uncle for both the genes variations. An amniocentesis was done at 18 weeks gestation for the novel mutation in the UPF3B gene and the fetus was found unaffected. The patient delivered a healthy male child who is doing well at two years of age. To conclude, we should not disregard VOUS on exome sequencing. Identification of VOUS requires careful genotype-phenotype correlation and segregation studies to counsel parents regarding the risk of having another affected child.

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