Experiences from Garbha-Swasthya Helpline.

Garbha-Swasthya helpline is a telephone helpline run by a tertiary care private hospital to address issues related to pregnancy and its complications. A review of the helpline data from September 2010 to December 2012 was conducted to study caller characteristics, number of calls and related information, and the reasons to call. Out of the total 696 voice calls, 421 were new callers and 275 were repeat callers and they comprised mainly pregnant women (73.3%), their relatives (24.8%), and medical professionals (1.9%). Most calls were related to fi rst pregnancy and were mainly from Pune and other cities of Maharashtra. All calls by the medical professionals were regarding drug safety in pregnancy. The commonest category of questions (27.4%) was about exposures (drugs, alcohol, eclipse, radiation, etc.) and preexisting medical illness followed by pregnancy complications (18.5%), common medical issues such as nausea/vomiting during pregnancy, and delivery and postpartum period (14% each). Although the total number of calls received has steadily increased, efforts to create public and professional awareness to increase the usage of this helpline are warranted.

Johanson-Blizzard Syndrome.

We present clinical features and genetic diagnosis in an Indian infant diagnosed with Johanson- Blizzard syndrome. This is a rare, autosomal recessive genetic condition with multi-system involvement and a characteristic facies. Molecular genetic testing is important to confirm the clinical diagnosis and offer prenatal diagnosis in future pregnancies.

Nutri-genetic determinants of neural tube defects in India.

Justification: Neural tube defects (NTDs) are one of the commonest birth defects with a high incidence in India. However, few studies have systematically looked into the etio-pathogeneis of NTDs, which mainly includes nutritional deficiencies and genetic predisposition. Efforts are afoot for universal food fortification with folic acid in the hope of preventing NTDs, without factual evidence of folate deficiency in the target population. Evidence acquisition: We conducted a review of Indian literature on NTDs focusing on the role of folate and vitamin B12 nutrition and common genetic polymorphisms in 1-carbon metabolism. We performed a literature search of Medline and Indian Medlars (www. indmed.nic.in) for articles using following search terms: Neural tube defect and India, published up to November 2008, on human subjects. We did not include individual case reports and case series describing surgical and medical management, genetic syndromes where NTD was only one of the features or unusual associations of NTDs with other clinical findings. Results: Absence of a nationally representative large study, lack of interventional studies and methodological differences were conspicuous during this review. Larger studies are, therefore, urgently needed to delineate gene-nutrient interactions in association with NTDs in India. We urge that caution should be exercised before widespread folic acid fortification of food, without addressing the issue of concurrent B12 deficiency.

Bartsocas-Papas syndrome.

We report three sibs born to a third degree consanguineous Indian family affected with Bartsocas Papas Syndrome. All the three pregnancies were complicated by severe oligohydramnios, which is not commonly seen with Bartsocas-Papas syndrome.

Many faces of Hirschsprung's disease.

Hirschsprung's disease (HSCR) is the main genetic cause of functional intestinal obstruction with an incidence of 1/5000 live births. The etiology of HSCR is complex and is presumed to be a sex-influenced multifactorial disorder, with contributions from several genes. All the genes involved in HSCR are also involved with the early development of the enteric nervous system. HSCR is known to be associated with a chromosomal abnormality in 12 % of cases, and with other congenital anomalies in additional 18 % of cases. It is recommended that patients, including newborns, with HSCR undergo a careful assessment by a clinician trained in dysmorphology. Echocardiography, ultrasonography for urogenital malformations and skeletal x-rays should be routinely performed in cases with HSCR to rule out associated anomalies. HSCR associated with dysmorphic features or any additional systemic anomaly should prompt chromosomal studies. Genetic counseling should be provided to families of HSCR patients as the recurrence risk varies from 4 % to up to 50 % depending on whether it is non-syndromic or part of a specific syndrome.