ABSTRACT
Background: Gestational hypertension and preeclampsia is one of the leading causes of maternal and fetal morbidity and mortality. The objective of this study was to study prediction of gestational hypertension/preeclampsia by using first trimester serum vitamin D and hs-CRP and second trimester uterine artery diastolic notching.Methods: It was an observational study conducted in the departments of obstetrics and gynaecology, clinical biochemistry and radiology, Vardhman Mahavir Medical College and Safdarjung Hospital, New Delhi, India. All pregnant women with 11 to 14 weeks gestational age attending antenatal clinic between October 2012 and June 2013 were enrolled in the study. A detailed history including history of the duration of sun exposure was taken and a general physical examination including obstetrical examination was done at every visit. Serum sample were taken for hs-CRP and vitamin-D levels at 11-14 weeks. Uterine artery colour doppler study was done between 22-24 weeks for uterine artery diastolic notching. The main outcome measures were development of gestational hypertension/ preeclampsia/ eclampsia.Results: The mean vitamin D levels were significantly lower and mean hs-CRP levels were significantly higher in the hypertensive group as compared to the normotensive group, p=0.001 and p=0.004, respectively. Significant number women who developed hypertension had unilateral (46.2%) or bilateral (20.4%) uterine artery diastolic notching, p=0.005 and p=0.000, respectively. Crude’s odds ratio of uterine artery diastolic notching for prediction of hypertension in pregnancy was high, 9.894, 95% CI, 3.273-29.907 as compared to vitamin D (<13.5 ng/ml) and hs-CRP (>9.15 mg/L), 2.859, 95% CI, 1.418-5.763 and 7.16, 95% CI, 3.33-15.397.Conclusions: Uterine artery diastolic notching in the early second trimester is found to be the best predictor of PE followed by first trimester hs-CRP and vitamin D.
ABSTRACT
Background: Fragile X syndrome is the most common cause of inherited X-linked mental retardation. It is due to a mutation in a gene on X chromosome leading to hyper-expansion of a trinucleotide repeat sequence. The two most common Fragile sites with clinical significance are FRAXA at Xq27.3 comprising CGG repeat and a more distal FRAXE associated with amplification of a GCC repeat, located at Xq28. The frequency of occurrence of Fragile X syndrome is estimated to be 1/4000 male births. Screening of referrals for the mutations associated with the Fragile X syndrome constitutes a significant workload in many genetic laboratories. Aims: The aim of the present study was to establish the use of PCR based simple and rapid method of initial screening of samples, so that only a minority of samples tested positive with the above methods need to be screened by Southern blotting which is more time consuming and involves use of radioactive material. materials and Methods: Study includes 294 patients with mental retardation. DNA extracted from blood was used for simultaneous amplification of the triplet repeat sequences at the FRAXA and FRAXE loci. Secondly samples from females were analyzed for heterozygosity of normal FRAXA allele. For confirmation of the presence of an expanded FRAXA allele in all the male positive cases, Southern blot hybridization was carried out. PCR based assay was done to detect methylation of the CpG island upstream of the FMR-1 gene. Results: Out of the 294 cases 23 (7.8%) were found to be having full mutation (FM) for FRAXA (21 males, 1 female & 1 male with mosaic FM/PM) and 13 females as having premutation (PM). All these 36 cases were confirmed by Southern blotting using appropriate probes. Among the females the heterozygosity for FRAXA allele was found to be 46%. Conclusion: Non-radioactive PCR methods are efficient and rapid test for intial screening of samples for the presence of FRAXA and FRAXE mutations. Since a large majority of referrals do not have Fragile X, this economical and reliable method reduces the number of samples needing Southern blotting.