European Journal of Molecular & Clinical Medicine

To assess the accuracy of ultrasound in diagnosis of congenital uterine anomalies.
Material & Methods: This study of uterine morphology is being done on 30 females to assess the congenital anomalies of uterus. The records have been taken from the Radiology department, Al Falah Hospital, Faridabad,Haryana.
Results: Appearance of the uterus by the Two Dimensional Ultrasound was normal in 16 patients, subseptate in 3 pateints, Unicornuate in 0, bicornuate in 6, small uterus in 1, agenesis in 2 and arcuate in 2 patients.
Conclusion : A significant proportion of congenital anomalies of uterus are diagnosed during investigations for infertility. Accurate diagnosis helps in the appropriate counselling of women about their potential reproductive prognosis for planning any intervention with a view to improve the reproductive outcome.

Purpose: To evaluate the causes of visual impairment in adults attending our Government tertiary care hospital, in India for the purpose of blindness disability certification to aid in better planning and prevention of blindness activities in India.
Methods: The study was a non-interventional cross-sectional record-based analysis on 411 adults with permanent visual impairment attending Ophthalmologyout patient department of Mandya Institute of Medical Sciences, Mandya, India for blindness disability certification during July 2019 to Dec 2020. Patients demographic data, educational background, need for disability certification and area of residence all noted after complete ocular examination and categorised depending on the etiology and percentage of visual impairment. Groups analyses and P<0.05 was taken as level of statistical significance.

Nightmares along with happy dreams is the scenario of parents of congenital anomalies child. Antenatal diagnosis of congenital anomalies need high index of clinical suspicion. If suspected on ultrasound, further investigation be should be carried out to find out any chromosomal defects. Genetic counselling plays crucial role in chromosomal anomalies. Here we present a spectrum of congenital anomalies of brain and spinal cord at various stages of development.
 

An increased complication rate during or after pregnancy and birth leads to a condition known to the mother or child when High Risk Pregnancy (HRP) and may be for both. An attempt was made here to find the role of TORCH infection in high-risk pregnant women; oxidative stress and somatic DNA damage, leading to congenital anomalies(CAs).The patients were referred from various infertility clinics and maternity centers of Kerala to Advanced Genetic Study Centre (Genetika), Trivandrum, Kerala. Study population includes 170 study subjects and 105 healthy controls. Blood sample was collected for TORCH IgG (ELISA), oxidative stress evaluation (Malondialdehyde by thibarbituric acid assay) and somatic DNA damage (CBMN assay). Among 275 subjects, 170 (61.81%) had the history of high-risk pregnancy with a mean age of 35.65±6.30 years. The control group included 105 women with previous normal pregnancy with a mean age of 34.03±6.10 years. TORCH infections had a significant role in HRP (p-value<0.001). Study group population showed a mean MDA value of 2.95 ± 2.09 and that of control group was1.67 ± 0.70. The mean value of CBMN frequency was 12.44 ± 1.01 in study subjects and that of controls was 9.98 ± 0.58. Study group showed a higher CBMN frequency and MDA value than control group. Proper diagnosis and intervention during early stage can be done by routinely screening of sample for TORCH agents, oxidative stress and somatic DNA damage even if the case is asymptomatic which shows high risk in postnatal periods. This can manage and reduce adverse foetal outcomes efficiently, thus reducing morbidity and mortality.

Congenital anomalies are the structural and functional irregularities at birth. In this progressive study, all the neonates who are admitted to the Neonatal Intensive Care Unit during the three year period from 1st June 2017 to 31 May 2020.
Aim: The study aims to examine the prevalence, type, and epidemiological factors of congenital anomalies among the population of Ladakh India.
Subject and methods: All the neonates during the study period were examined by pediatrics and questionnaire filled by the consent of the family. A total of 936 parents of neonates was agreed to participate in this study and among them, 524 are male neonate and 412 was female.
Results: Four and a half percent were diagnosed as being congenital malformed and the common system affected by congenital anomalies in the digestive system followed by the mucso-skeletal system. In this study, based on the logistic regression consanguineous marriage with OR of 9.862 (4.221; 23.041), P= <0.001, familial congenital anomalies in the family with OR of 17.008 (4.343; 66.606), P=0.001, an anaemic mother with OR of .124 (.029; .538). P = .005, Apgar score with .033 (.016: .067), P-value of <0.001 and paternal smoking with OR of 13.305 (5.558: 31.854) with P value of <0.001 had shown a very good significant correlation with the congenital anomalies.
Conclusion: The occurrence and distribution of congenital anomalies in Ladakh were reported. More active prenatal screening and the possible role of genomics study are major importance to uncovering the susceptibilities.