Comparative study on maternal and fetal outcome in pregnant women with rheumatic heart disease and severe mitral stenosis undergoing percutaneous balloon mitral valvotomy before or during pregnancy

Introduction Mitral stenosis due to rheumatic heart disease is a common problem in India causing significant morbidity and mortality. We have compared the maternal and fetal outcome of women with severe mitral stenosis undergoing percutaneous balloon mitral valvotomy before or during pregnancy. Methods A total of 24 women of severe rheumatic mitral stenosis who underwent balloon mitral valvotomy before pregnancy (14 women, group 1) or during pregnancy (10 women, group 2) were included in the retrospective descriptive analysis. Results The mean age was 25.5 ± 3.6 yrs in group 1 and 25.7 ± 3.5 yrs in group 2. There was no difference in characteristics –primigravidas, time since diagnosis from pregnancy, NYHA (New York Heart Association) class and associated medical problems in the two groups. There was significant difference in cardiac events during pregnancy in the two groups. New York Heart Association class deterioration was observed in only 3(21.4% women in group 1) as compared to all (10; 100% women) in group 2(p < 0.001). The incidence of arrhythmias and atrial fibrillation was not different in two groups. Obstetric events were similar in the two groups. Mode of delivery and caesarean section rate was also similar in the two groups. There was no significant difference in mean birth weights (2399.75 ± 601.8 gm vs. 2641.70 ± 580.6 gm),rate of fetal growth restriction, still birth and congenital malformation rates in the two groups. Conclusion Percutaneous mitral valvotomy for patients with severe mitral stenosis can be safely performed during pregnancy and has equivalent maternal and fetal outcomes as that performed before pregnancy.

Prevalence, progression, and outcomes of diabetic retinopathy during pregnancy in Indian scenario

Purpose: The objective of this study is to evaluate pattern of diabetic retinopathy (DR) during pregnancy in females with pregestational diabetes mellitus (DM). Methods: This is an ambispective observational cohort study conducted at an Indian tertiary care centre. A total of 50 pregnant females with pregestational DM were included while those with gestational DM were excluded from the study. Ocular examination (inclusive of fundus photography) was conducted and systemic parameters (inclusive of Glycated hemoglobin) were assessed during each of the 3 trimesters and 3 months postpartum. The prevalence and progression of DR during pregnancy in the study cohort were the main outcome measures. Results: Three of the 50 patients had type 1 DM while 47 had type II DM. All the patients with type I DM were insulin dependent while 19 patients with type II DM were insulin dependent. Overall prevalence of DR was 8% (4/50); 2 cases had nonproliferative DR (NPDR), and 2 had proliferative DR (PDR). During the study period, worsening was seen in both the patients with PDR and one required vitrectomy. Mean visual acuity in patients with PDR decreased from 0.77 logMAR units at presentation to 1.23 logMAR at final follow-up. There was no change in the mean visual acuity of patients with NPDR. None of the patients with NPDR converted to PDR. There was no new onset DR in the patients without DR at presentation. Assessment of risk factors for DR revealed significantly higher duration of DM (14 ± 6.32 years vs. 3.43 ± 1.43 years, P = 0.0008). The median age was also higher in the DR patients (31 years vs. 29 years, P = 0.32). Conclusion: No new onset cases were seen during the course of pregnancy and no conversion from NPDR to PDR was seen; however, a worsening of the two PDR cases was observed. No cases of DR were seen in noninsulin-dependent DM. None of the four participants with DR showed a spontaneous resolution of DR postpartum. Patients with PDR and long-standing DM require careful observation during pregnancy. A registry of diabetic mothers should be set up for development of guidelines for managing such cases.

Maternal and fetal outcome in operated vs non-operated cases of congenital heart disease cases in pregnancy

Objectives To study pregnancy outcomes in operated vs non-operated cases of congenital heart disease cases during pregnancy. Materials and methods A total of 55 patients of congenital heart disease who delivered in the authors unit in last 10 years were taken in this retrospective study. These were divided into two groups Group 1:29 (52.7%) patient who had no cardiac surgery and Group 2: 26(47.2%) who had cardiac surgery to correct their cardiac defect before pregnancy. All patients were evaluated for cardiac complications and outcome during pregnancy. Obstetric complications, mode of delivery and fetal outcome was compared in the two groups using statistical analysis. Result The commonest lesion was atrial septal defect (ASD) seen in 22(40%) patients followed by ventricular septal defect (VSD) in 16(29%) .Congenital valvular disease 8(14.5%) and patent ductus arteriosus in 4(7.2%) cases. The mean age was 25.9 ± 3.15 years in Group 1 and 26.3 ± 4.53 years in Group 2. The baseline characteristics were similar in the two groups. There was no difference in cardiac complications, NYHA deterioration and need of cardiac drugs in the two groups. Obstetric complications and mode of delivery were also similar in the two groups.Mean birth weight was 2516.65 ± 514.04 gm in Group 1 and 2683.00 ± 366.00 gm in Group 2 and was similar. APGAR < 8, stillbirth rate and other neonatal complications were also similar in two groups. Conclusion The maternal and fetal outcome was excellent in patients with congenital heart disease and was similar in unoperated and operated cases.

Aggressive angiomyxoma of the vulva in a patient with systemic lupus erythematosus.

Aggressive angiomyxoma is a rare, slow-growing mesenchymal neoplasm with a tendency to recur. It mainly involves the pelvis, vulva, perineum, vagina, and urinary bladder in adult women of reproductive age group. We describe a 26-year-old female with large swellings of both labia majora which was histologically diagnosed as aggressive angiomyxoma. She also had systemic lupus erythematosus. The swelling was surgically removed and she had no recurrence at 1-year follow-up. Although it is a rare tumor, it must be considered as a differential diagnosis for any mass in the perineum or soft tissue of the pelvis. Long-term follow-up is necessary for early diagnosis of local recurrence.

Visual inspection for cervical cancer screening: evaluation by doctor versus paramedical worker.

BACKGROUND: In the absence of an effective cervical cancer screening programme, efforts are being made to explore the feasibility of using the existing infrastructure to develop effective low-cost screening methods. AIMS: To evaluate and compare test performance of visual inspection of the cervix by a doctor and a paramedical worker. SETTING AND DESIGN: Gynaecology outpatient department (OPD), All India Institute of Medical Sciences, New Delhi; cross-sectional study. MATERIAL AND METHODS: One hundred women with complaints of vaginal discharge, irregular bleeding, post coital bleeding or unhealthy cervix underwent visual inspection with acetic acid (VIA) and Lugol's iodine (VILI) by a doctor and nurse, followed by colposcopy and biopsy. STATISTICAL ANALYSIS USED: Sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) were calculated for each test and compared. Concordance was determined by kappa statistics. RESULTS: VIA by nurse had a higher sensitivity (100% versus 87.5%), but lower specificity (53% versus 63%) when compared with the doctor, but it was not statistically significant. There was moderate agreement between their VIA findings (kappa=0.56). VILI findings were comparable to that of the VIA, both by the doctor and nurse. There was almost perfect agreement (kappa=0.89) between VILI by the doctor and nurse. CONCLUSION: Visual inspection can be performed reliably by trained paramedical workers and doctors and is an effective screening option in low resource settings.

Prenatal diagnosis of haemoglobinopathies.

BACKGROUND: Haemoglobinopathies constitute a major health problem in the Indian subcontinent. In the absence of any method for achieving complete cure and treatment being expensive, prenatal diagnosis and selective termination of an affected foetus is a feasible option to decrease the disease load. We report our experience with prenatal diagnosis of haemoglobinopathies over a two-and-a-half year period in 257 pregnancies. MEHODS: Amplification refractory mutation system (ARMS) was used to detect beta-thalassaemia, haemoglobin E and sickle cell mutations. RESULTS: Five mutations in the beta-globin gene which are common in the Indian population were detected in 92.3% of mutant chromosomes, whereas 3.1% of chromosomes carried rare mutations followed by 0.8% haemoglobin E and 0.4% sickle cell mutations. Mutations in 3.3% chromosomes were uncharacterized. The prenatal procedure, carried out early in pregnancy, was a chorionic villus sampling in most cases. A confirmed diagnosis based on ARMS-PCR was given in 241 (93.8%) cases. In 10 cases (3.9%) linkage analysis was required to confirm the foetal status, as mutations in both parents were not identified or the chorionic villus sample carried the single identified mutation. Four families with haemoglobin E-beta thalassaemia and one family with sickle cell disease were also included. Of the study population, 91.25% of the couples had a previous child with haemoglobinopathy, whereas 8.75% of the couples came before the birth of the first affected child. CONCLUSION: We conclude that ARMS-PCR is a highly sensitive technique for detecting mutations in the beta-globin gene and its efficacy in the prenatal diagnosis of haemoglobinopathies is proven.

Prenatal diagnosis of chromosomal abnormalities in women with high risk pregnancies.

BACKGROUND & OBJECTIVES: Prenatal diagnosis helps in averting the birth of infants with chromosomal abnormalities. Fluorescence in situ hybridization (FISH) has been introduced as a potentially powerful tool in clinical cytogenetics. Several studies have reported successful prenatal diagnosis of chromosomal abnormalities in high risk pregnancies using FISH, however there are no reported studies from an Indian set up. Prenatal diagnosis for the detection of chromosomal abnormalities was carried out by conventional cytogenetics in the present study in the foetuses of high risk pregnancies in women attending a tertiary care facility in north India. These cases were further analyzed using FISH, to test the efficiency and utility of this technique for prenatal detection of common aneuploidies. METHODS: A total of 82 women with high risk pregnancies (81 singleton, 1 twin) were included in the study. Prenatal diagnosis was performed in these women using conventional chromosomal analysis (CCA) and interphase or metaphase FISH on chorionic villus or amniotic fluid or cord blood samples. RESULTS: Chromosomal analysis was successful in 80 instances and uninformative in 2. Abnormal karyotypes were detected in five (6.09%) of these women. FISH was successful in all the subjects and the results were in conformity to the cytogenetic results. In the 2 women where cytogenetic analysis was uninformative, results were given on the basis of interphase FISH. INTERPRETATION & CONCLUSION: The study clearly demonstrates that prenatal diagnosis is useful in the detection of chromosomal abnormalities in foetuses of women with high risk pregnancies. FISH is a powerful sensitive molecular cytogenetic technique, through which specific chromosomal abnormalities can be diagnosed/identified rapidly and accurately and may be used as an adjunct to conventional cytogenetic analysis.

Successful pregnancy outcome in advanced chronic renal failure.

A 24 years female of advanced chronic renal failure due to lupus nephritis presented with pregnancy of eight weeks duration she continued the pregnancy against medical advice. At 29 weeks gestation further deterioration of renal function prompted weekly dialysis and hospitalisation for intensive maternal and fetal monitoring. At 35 weeks she was safely delivered by elective caesarian section. This is the first case of dialysis during pregnancy to be reported from India.

Factors determining the occurrence of unwanted pregnancies.

BACKGROUND: We aimed to identify the factors involved in the occurrence of unwanted pregnancy in women seeking medical termination of pregnancy, and to describe their contraceptive practices. METHODS: A descriptive interview-based study of 402 women seeking abortion was done. Information was gathered regarding demographic variables, contraceptive practices and reasons for the unwanted pregnancy. RESULTS: All the women in our sample were married and multiparous. The husband's unwillingness for contraception and the improper use of condoms was responsible for one-third of all unwanted pregnancies. Lactation was believed to be a protection against pregnancy by 11.3% of women while 6.3% were unaware of any contraceptive method. CONCLUSION: We believe that focusing on these areas in public health programmes will help to decrease the number of unwanted pregnancies.

Angioembolisation in vaginal vascular malformation.

Vaginal arteriovenous malformations are rare entities and their most common presentation is vaginal haemorrhage. This case report describes a 22-year-old woman who presented at 20 weeks of gestation with slow growing soft and tender swelling at anterior vaginal wall. Diagnosis was confirmed as vaginal vascular malformation on contrast enhanced magnetic resonance imaging. The mass did not subside after delivery and patient developed dyspareunia. It was successfully treated by angioembolisation using polyvinyl alcohol particles. Angioembolisation being safe and effective should be the treatment of first choice for symptomatic vaginal vascular malformation.

Idiopathic origin of meconium peritonitis.

A 26-year-old, gravida 3 presented at 31 weeks of gestation with polyhydramnios. On ultrasound there was marked foetal ascitis with unilateral hydrocele. Patient delivered a 3.15 kg, large-for-date baby at 33 weeks and 3 days of gestation. On basis of clinical, radiological and sonographic features, diagnosis of meconium peritonitis was made. Ascitic tapping was done. Surgery was withheld, as there were no signs of intestinal obstruction. DNA testing for cystic fibrosis was negative. Baby did not deteriorate so he was discharged. Baby was doing well on 2 months follow up. Hydrocele and ascitis were resolving. Rarely meconium peritonitis may occur without an underlying cause when peritonitis may be innocuous and intervention may not be required.

Symptomatic outcome after laparoscopic cholecystectomy.

AIMS: Patients with gallstones often present with multiple complaints. We wanted to study the major complaints of our patients undergoing laparoscopic cholecystectomy and the symptomatic relief afforded by the operation. METHODS: We studied 113 patients with symptomatic gallstone disease who underwent laparoscopic cholecystectomy in a single surgical unit. Patients with proven common bile duct stones, obstructive jaundice, cholangitis, present or past associated abdominal pathology or cholecystoenteric fistula were excluded from the study. The mean follow up period was 18 months (range 10-22 months). A detailed account of the symptoms of gallstones, length of post-operative stay, persistence of symptoms, development of fresh symptoms and resumption of fat containing diet were assessed. RESULTS: The male to female ratio was 1:4. Common presenting symptoms were abdominal pain (96%), flatulence or feeling of fullness of abdomen (85%), heartburn (66%), belching (62%), sour eructation (52%), vomiting (48%) and nausea (45%). Mean postoperative hospital stay was 28 hours (range 9-68 hours). Biliary pain was relieved in 99% of patients after laparoscopic cholecystectomy (p < 0.001). The non-pain symptoms which are relieved significantly (p < 0.001) included nausea (98%), vomiting (96%) and sour eructation (92%) had better outcome than belching (64%) flatulence (61%) and heart burn (59%). None of the patients developed jaundice after cholecystectomy. Fresh symptoms that developed after laparoscopic cholecystectomy were heart-burn (6%), belching (3.5%), sour eructation (1%) and vomiting (0.5%). Post-cholecystectomy post-prandial diarrhoea occurred in 20% of the patients. The patients' appreciation of a satisfactory cosmetic result of operation scars was 100 percent. Fifteen female patients (13.5%) complained of increased weight gain of more than 5 kg after laparoscopic cholecystectomy [(p > 0.05; not significant (NS)]. CONCLUSION: Laparoscopic cholecystectomy significantly relieved symptoms of gall stone disease. Biliary pain, nausea, vomiting and sour eructations had better outcome compared to belching, flatulence and heartburn, which are also relieved in majority. Postcholecystectomy post-prandial diarrhea was a significant new symptom after cholecystectomy. Pre-operative flatulence and heartburn are risk factors for poor symptom relief. All patients should be pre operatively counselled about the risk of persistence of some non-pain symptoms after laparoscopic cholecystectomy.

Prenatal diagnosis of Duchenne muscular dystrophy.

BACKGROUND: Duchenne muscular dystrophy (DMD) is one of the most common X-linked genetic disorders seen in children. Mutations in the DMD gene coding for the protein dystrophin causes the severe muscle-wasting disorder leading to death in the second decade of life. In the absence of a cure, prenatal diagnosis (PND) appears to be the best approach to reduce the burden of this disease on the individual family and ultimately on society. There are few published reports worldwide on PND and very few from the developing countries. We report our experience with PND for families with DMD using multiplex polymerase chain reaction (PCR) and microsatellite polymorphic marker analysis. METHODS: From August 1997 to October 1999, PND was offered on request to 23 families with one or two boys affected with DMD. A total of 26 foetuses were screened for DMD. Initially the deletions in the DMD gene in the affected child were identified by multiplex PCR screening for 23 exons in 6 sets. In patients where deletions were not identified, microsatellite repeat analysis was carried out to follow the inheritance of the mutant allele. DNA was extracted from chorionic villus samples obtained by chorionic villus biopsy performed at 10-15 weeks of gestation in 17 families, and at 16-20 weeks in 6 families. RESULTS: Deletions were identified in 20 affected boys. In 2 families, microsatellite repeat analysis was done to identify the mutant allele. Of the 26 foetuses, 5 were found to be affected with DMD and the parents opted for termination of pregnancies. CONCLUSIONS: Multiplex PCR technology and microsatellite repeat analysis can be used effectively for PND of DMD.

Prenatal diagnosis and assessment of fetal malformations by ultrasonography in India.

A multicentre study to assess the status of prenatal diagnosis of fetal malformation in India was conducted. Questionnaires were sent to the teaching hospitals and to centres in the private sector involved with ultrasonography in all the four zones. Data were obtained from 13 centres. Basic level I scans were performed on all pregnant women in 64% centres, whereas level II or targeted scans were performed as routine in 42% centres. Obstetricians performed level II scans in only 35% of cases while rest were performed by radiologists. Malformations of the central nervous system were commonest, accounting for 35-69% of all malformations, followed by genitourinary and gastrointestinal malformations. Malformations of the cardiovascular system were detected in 9.3% as abnormal four chamber view and outlet tract abnormalities, subsequently confirmed on fetal echocardiography. Invasive prenatal diagnosis by fetal blood sampling, chorion villus sampling and amniocentesis for chromosomal analysis of malformed fetuses was performed at 40% centres. At the All India Institute of Medical Sciences, approximately 11,042 ultrasound scans were performed by obstetricians as routine in all pregnant women. A total of 543 malformations were detected accounting for a 4.9% incidence of structural anomalies. A total of 98 cardiovascular malformations were detected in high and low risk pregnant women on fetal echocardiography. No database or registry exists in India to give an actual insight into the problem of congenital malformation and their prenatal diagnosis. It is important to train obstetricians in level I and II ultrasonography, to recognise centres and institutions at national and regional level, and to integrate a network of diagnostic testing. Close liaison between geneticists, radiologists, pediatric surgeons, pediatricians and obstetricians is a must for prenatal diagnosis and management of fetal malformations.

Detection of chromosomal abnormalities using fluorescence in situ hybridization (FISH).

BACKGROUND: A number of studies have demonstrated the use of molecular cytogenetic techniques for clinical diagnosis. We compared the results of FISH analysis and conventional cytogenetics on different tissue samples for detection of chromosomal aberrations and to assess the utility of FISH assay for clinical diagnosis. METHODS: Karyotypic analysis was carried out on 50 samples--20 peripheral blood samples, 20 bone marrow samples and 10 prenatal (chorionic villi/amniotic fluid) samples. The same chromosome preparations were further subjected to FISH analysis using probes specific for chromosome X, Y, 21 or bcr-abl gene. RESULTS: The results of FISH analysis were in conformity with the cytogenetic results in all the samples except one. FISH analysis could reveal hybridization signals even on poorly spread metaphase chromosomes and interphase nuclei. It was also possible to detect subtle chromosomal aberrations which were not detected using conventional chromosomal analysis. CONCLUSION: FISH is a powerful, sensitive molecular cytogenetic technique which can be used as an adjunct to conventional chromosomal analysis for prenatal diagnosis and the diagnosis and management of cancer patients. FISH analysis should be used as a supplement to conventional cytogenetics.

Familial male pseudohermaphroditism.

Familial male pseudohermaphroditism (MPH) due to 17,20-desmolase deficiency is rare. Here we present two siblings with MPH possibly due to 17,20-desmolase deficiency. The first patient presented with unambiguous female external genitalia and hypergonadotrophic hypogonadism. Chromosomal analysis revealed 46 XY. Ultrasound evaluation of pelvis revealed gonads in the inguinal canal, and no uterus. These findings were confirmed on laparotomy. Histology revealed the gonads to be testes. The second patient had ambiguous genitalia (perineoscrotal hypospadias, bifid scrotum with palpable gonads) with a 46 XY chromosomal pattern. Both patients had high plasma 17-hydroxy progestrone (17 OHP), low normal dehydro epiandrosterone sulphate (DHEAS) and low plasma testosterone. Plasma testosterone and DHEAS showed no response to ACTH or HCG. These features are compatible with the diagnosis of 17,20-desmolase deficiency.