Breast and ovarian cancers are the most commonly encountered cancers in women, although only 5% or less of these arise from hereditary predisposition. Mutations in two of the cancer susceptibility genes, BRCA1 or BRCA2, explain breast and ovarian cancers in a majority of these hereditary cancers. With the advent of gene testing and dissemination of information over the public domains, clinicians are often confronted by patients about the options and benefits of these tests. Genetic counseling and risk estimation for breast or ovarian cancer along with BRCA mutation analysis has been initiated by our group at the Tata Memorial Hospital and ACTREC. The purpose of this review is to a) provide basic information about the mutations in BRCA1 and BRCA2 genes b) highlight the relevance of population based data on the occurrence of mutations in these genes c) evaluate various methods of genetic testing and d) discuss clinical aspects for the management of disease in mutation carriers.
OBJECTIVE(S) : To analyze the outcome of pregnancies which cross expected date of delivery.
METHOD(S) : A total of 2090 women amongst 13,839 delivereis (15.19%) reported with pregnancy beyond 40 weeks – 1295 (62%) between 40-41 weeks, 545 (26.07%) between 41-42 weeks, and 250 (12%) beyond 42 weeks. Two thousand and ninety women with gestation between 37 to 40 weeks with similar inclusion and exclusion criteria formed the control group.
RESULTS : Out of the 2090 study subjects, 80 (3.8%) underwent elective cesarean section for unrelated indications, and hence were not analyzed further. Of the remaining 2010 women, 1060 (52.7%) had spontaneous labor and in 950 (47.3%) labor was induced for oligohydramnios or fetal compromise. Amongst the study subjects with spontaneous labor cesarean section rate was 30.18% (320/1060) and with induced labor it was 21.58% (205/950). This difference is statistically significants (P<0.05). In the controls all the women had spontaneous labor but 30.70% (629/2090) underwent cesarean section. This is similar to the 30.18% in the study group. In the study subjects intrapartum fetal complications seen were presence of meconium in 365(18.16%), adverse fetal heart rate patterns in 169 (8.4%), and shoulder dystocia in two. Maternal complications were postpartum hemorrhage in 10 (0.47%) and postpartum sepsis in 20 women (0.95%). In the study subjects corrected perinatal mortality rate (PNMR) (excluding lethal congenital anomalies was 13.43 and amongst the controls it was 9.56 (P = 0.8637).
CONCLUSION(S) : In women with postdate pregnancy an individualized approach with induction of labor when necessary is recommended.
OBJECTIVE(S) : To define the incidence and systemic distribution of major fetal anomalies in Northern Kerala.
METHOD(S) : Live 30,030 singletons of 9 to 41 weeks of gestation were scanned and statistically analysed during a period of 15 years and 7 months.
RESULTS : The incidence of major fetal anomalies was found to be 2.59% (P=0.046). The central nervous system was the commonest involved (39.20%), followed by the genitourinary tract (18.09%) and the skeletal system (11.79%). The incidence of neural tube defects was 17.26%. The sensitivity and the specificity values of the screening results were 72.2% and 98.6% respectively with a P value of 0.046.
CONCLUSION(S) : This study recommends the use of a minimum one antenatal ultrasound screening preferably in the late first trimester. Where facilities are available, an early first trimester scan followed by mid-trimester and late third trimester scans can surely avoid many maternal and fetal complications.
OBJECTIVE(S) : To compare the efficacy and safety of vaginal misoprostol and oral misoprostol with intracervical dinoprostone gel for labor induction at term.
METHOD(S) : In our tertiary referral hospital, 25 mg vaginal misoprostol 6 hourly for a maximum of five doses and 50 µg oral misoprostol 6 hourly for a maximum of five doses were compared with 0.5mg intracervical dinoprostone gel 12 hourly for a maximum of three doses for induction of labor at term in 150 women in three groups of 50 each. Number of vaginal deliveries achieved, induction to vaginal delivery interval, requirement of oxytocin, incidence of cesarean section for fetal distress, failed induction, side effects, and neonatal outcome were compared.
RESULTS : There were no differences in the mode of delivery. Induction to vaginal delivery interval was significantly shorter and lesser number of women required oxytocin in the vaginal misoprostol group compared to intracervical dinoprostone gel group whereas the differences were not significant in the oral misoprostol group. There were no differences in the incidences of cesarean section for fetal distress, failed induction, hyperstimulation, and neonatal outcome.
CONCLUSION(S) : Vaginal misoprostol is more effective and as safe, and oral misoprostol is as effective and safe as intracervical dinoprostone gel for labor induction at term, in primigravidas and multigravidas with unfavorable cervices without previous uterine scar.
OBJECTIVE(S): To evaluate the accuracy and usefulness of predicting birth weight by measuring fetal thigh circumference by ultrasound.
METHOD(S): In 110 pregnant women, fetuses without structural or chromosomal anomalies were studied prospectively and cross-sectionally. Thigh circumference (TC) was determined at the mid level of the thigh. Biparietal diameter (BPD), head circumference (HC), abdominal circumference (AC), and femur length (FL) were measured using standard techniques. Fetal weights were estimated within a week prior to delivery. Estimates of birth weights obtained by various ultrasound birth weight formulas in different weight categories were statistically analysed and compared with each other and also with estimates obtained by clinical methods.
RESULTS: Estimated fetal birth weight using TC correlated well with actual birth weight in all birth weight categories and was superior to clinical and birth weight formulas using BPD, HC, AC and FL measurements.
CONCLUSION(S): There was a good correlation between ultrasound measurement and actual postnatal measurement of thigh circumference (r2=0.89, p<0.01). Thigh circumference measurement was simple and there was better accuracy when it was combined along with BPD, HC, AC and FL measurements.
OBJECTIVE(S) : To evaluate the maternal and perinatal outcome of pregnancies in women aged 35 years or more at the time of delivery and to compare them with their younger counterparts aged between 20 and 29 years.
METHOD(S) : A retrospective review of hospital deliveries after 20 weeks of gestation between January 2000 and June 2004 was done. The maternal and perinatal outcomes of pregnancies in women aged 35 years or more (study group n=268) were compared with those in women between 20 and 29 years of age, their younger counterparts (control group n=268). Mann-Whitney and Mantel Haenszel and chi square tests were used for statistical analysis.
RESULTS : The mean age in study group was 35.8 years ranging from 35 to 40 years. Mean parity was significantly high in study group (P<0.001). Bad obstetric history, history of infertility, and diabetes were significantly present in the study group (p<0.02). There was no significant difference regarding mode of delivery. Preterm labor and apgar less than 7 at 5 min was significant in study group.
DISCUSSION(S) : Women aged 35 years or more constitute a high risk group but they can expect a good pregnancy outcome with careful and watchful antenatal care and delivery.
OBJECTIVE(S): To evaluate the clinical course and outcome of pregnancy in eclampsia with emphasis on the pitfalls in the diagnosis and management.
METHOD(S): Seven hundred ninetyone consecutive cases of eclampsia were evaluated, 783 cases were managed with magnesium sulphate, and 8 were managed with Phenytoin regime.
RESULTS: 238 (30%) women did not have edema, 111 (14%) women had relative hypertension and 90(11.4%) did not have proteinurea at the time of admission. The convulsions developed in 73 (9.2%) women after anticonvulsant therapy was started. There were 43 (5.4%) maternal deaths and morbidity consisted of pulmonary edema in 28 (3.5%) cases, aspiration pneumonia in 21 (2.7%) cases, acute renal failure in 9 (1.10%) cases. Perinatal mortality was 39.3% with the majority being related to extreme prematurity.
CONCLUSION(S): There is a need of proper antenatal care to prevent eclampsia and the need for intensive monitoring of women with eclampsia throughout hospitalization to improve both the maternal and perinatal outcome.
OBJETIVE(S) : To estimate the incidence of hypothyroidism in pregnancy, the effect of hypothyroidism on pregnancy, and the effect of pregnancy on hypothyroidism
METHOD(S) : The study period was from January 2002 to December 2003. Forty one pregnant women with hypothyroidism were taken as study group and 141 matched euthyroid pregnant women as control group. Z test was used for statistical analysis.
RESULT(S) : Incidence of hypothyroidism in pregnancy was 1.15%. Common associated complications were preeclampsia (21.95% vs, 14.89%, Z=0.99), preterm labor (19.51% vs, 23.40%, Z=0.54), threatened abortion (14.63% vs 4.96% Z=1.66), low birth weight (27.03% vs 27.21% Z = 0.02), neonatal hyperbilirubinemia (13.51% vs 4.41%, Z =1.55),neonatal hypothyroidism (10.81% vs 0.74%, Z=1.95) and early neonatal death (2.70% vs 2.94%, Z=0.04). There were no significant differences found between the two groups. In 82.93% of pregnant women thyroxine requirement was unchanged. Perinatal mortality rate was 81 per 1000 live births in hypothyroid women during the study period.
CONCLUSION(S) : No significant differences in pregnancy outcome were found when hypothyroid pregnant women (on thyroxine therapy) compared with euthyroid pregnant women. As there is higher incidence of cesarean section due to intrapartum fetal distress intensive intrapartum fetal monitoring is required.
OBJECTIVE(S) : To determine the effects of tobacco handling in pregnant bidi workers, mainly birth weight reduction, placental histopathological changes and urine cotinine levels.
METHOD(S) : A three phase prospective study was done
Phase 1 : Birth weight estimation of babies in 276 bidi workers and 276 control group of women at term.
Phase 2 : Comparison of birth weight, fetoplacental ratio and placental histopathology in study group women (n=100) at term with these in control group (n=100).
Phase 3 : Estimation of urine cotinine levels by Radio Immunoassay in bidi workers (n=76) pregnant or otherwise.
RESULTS : There was lowering of birth weight of babies in bidi workers by 310g. There was increased fetoplacental ratio in the study group along with significant placental changes like villous fibrosis (21%), basement membrane thickening (43%), calcification (61%), and moderate blood vessel thickening (41%). Urine cotinine levels were significantly high in 58.90% of bidi workers.
CONCLUSION(S) : Tobacco handling by pregnant bidi workers is as hazardous as smoking during pregnancy.
OBJECTIVE(S): To find out in a case control study whether leptin levels in PCOS patients are altered or not.
METHOD(S): In 19 obese and 16 non-obese polycystic ovarian syndrome (PCOS) patients and 10 controls we estimated body mass index (BMI), waist-hip ratio, fasting serum glucose, insulin, HOMA score for insulin resistance, leptin, luteinising hormone (LH) follicle stimulating hormone (FSH), total testosterone, and free testosterone levels. Statistical analysis was done with student’s t-test and Pearson correlation coefficient.
RESULTS: Serum leptin, fasting serum insulin, HOMA scores for insulin resistance were significantly higher in obese PCOS patients compared to non-obese PCOS patients and controls. LH, total testosterone and free testosterone levels were higher in both obese and non-obese PCOS patients compared to controls.
Conclusion(S): High serum leptin levels observed in obese PCOS patients are related to obesity and not the pathogenesis.
OBJECTIVE(S) : To examine the prescribing patterns for estrogen plus progestin therapy (hormone therapy (HT) and estrogen alone therapy (ET) in the matured women clinic in our hospital before and after the published results of women’s health initiative’s (WHI) HT trial and Million Women Study.
METHOD(S) : We conducted a retrospective observational study on 929 women aged 30 to 80 years who were enrolled in matured women clinic in our hospital from January 1999 to December 2005 to estimate the prevalence of HT and ET. We used the record files of all patients for data analysis.
RESUTS : Before the published results of WHI trial there was a rise in ET use from 26% in 1999 to 45% in 2000 and a rise in HT from 39% in 1999 to 73% in 2001. Following the publication of Women’s Health Initiative trial results in July 2002, ET prescriptions declined successively from 24% in year 2002 to nil in 2004. HT prescriptions also declined from 10% in 2002 to nil in 2004. The ET use rose to 6.4% in the year 2005 but HT use still remained nil. Use of isoflavon rose from 25% in the year 2003 to 60% in the year 2005. Reasons for stopping HT were side effects in 23% and decreased compliance in 20% while reasons were not clear in 27%. No increased risk of breast cancer, stroke or thromboembolism was noted in the study.
CONCLUSION(S) : The diffusion of the WHI HT trial results had an immediate impact on the discontinuation of HT and ET. However ET use later on picked up but HT did not. Administrative claims data can be a useful tool for monitoring an immediate impact of national guidelines or a national level outcome trial.
HT ● hormone therapy ● ET ● estrogen therapy ● HRT ● hormone replacement therapy ● WHI ● women’s health initiative ● MWC ● matured women clinic ● MWS ● million women study.OBJECTIVE(S): To determine the efficacy of colour flow pulsed Doppler in diagnosing luteal phase defect (LPD) by comparing the flow velocity waveforms of ovarian and uterine artery in different phases of the same menstrual cycle in fertile women and in women with LPD.
METHOD(S): In a prospective study, 50 women at high risk for LPD were compared with 50 fertile women attending infertility clinic. A definite diagnosis of LPD was made by endometrial biopsy taken on day 25 of the menses using the criteria of Noyes et al1. The ovarian and uterine artery flow dynamics were studied in both the groups in all phases of menstrual cycle.
RESULTS: The mean pulsatility index (PI) was significantly higher in LPD group (n=15) compared to fertile group (n=44) in luteal phase of menstrual cycles (p<0.001) in the dominant side of the ovarian artery. The PI of ovarian artery in fertile group on dominant side was also significantly lower (p<0.001) in early, mid and late luteal phases as compared to that on nondominant side. The uterine artery also showed a statistically significant (p<0.001) lower end-diastolic velocities in LPD group as compared to the end diastolic velocities in the control group in all phases of luteal cycle.
CONCLUSION(S): Colour flow Doppler is an effective noninvasive method for diagnosing luteal phase defect.
OBJECTIVE(S): To study the histomorphological features of struma ovarii.
METHOD(S): Seven cases of struma ovarii were retrieved from the archives of the department and the slides of these ovarian tumors were reviewed.
RESULTS: Out of the seven cases of struma ovarii six were benign and one was malignant.
CONCLUSION(S): The thyroid tissue in a teratoma may show pathological changes as seen in normally placed thyroid including diffuse or nodular hyperplasia, thyroiditis, carcinoma and malignant lymphoma. Therefore, a careful histopathological examination of these cases is necessary.
