Congenital Anomalies – An Ultrasonographic and Autopsy Correlated Study

Abstract

Congenital anomalies became a crucial explanation for perinatal mortality in developed countries and developing countries like India. Worldwide surveys showed that birth prevalence of birth defect varies greatly from country to country which can be explained by social, racial, ecological and economical influences. Birth defect, leading explanation for foetal loss contribute significantly to preterm birth and childhood and adult morbidity, supported a study by Indian Academy of Paediatrics (IAP) reports that second major explanation for Infant deaths in Kerala is congenital anomalies (28%). Present Kerala’s Infant death rate is 10per1000 livebirths in 2017(0.00%) and Maternal death rate 40/1,00,000 live births in 2019 getting to be decreased MMR to thirty in 2020 and twenty in 2030. Purpose of this study is to research the potential value of antenatal scan from six to twenty weeks for the assessment and diagnosis of congenital anomalies with a view to stop the birth of such babies, to work out the pattern of the congenital anomalies, to categorize them system wise and to work out the sex ratio of foetuses with congenital anomalies. Fifty cases of detected birth defect cases by Ultrasound scan and specimen of Male and Female foetuses obtained from medical termination of pregnancy of six to twenty weeks. A   Proforma showing maternal datas, autopsy findings and Ultrasound findings. Anomalies were classified system wise into four categories in correlation with Ultrasound and Autopsy findings and foetuses with multiple congenital anomalies of varied systems. In System wise classification, commonest anomalies constitute Central systemanervosum (40%). Second commonest anomalies were of Urogenital system (36%). Category wise classification of congenital anomalies. Category A (full agreement between Ultrasound and Autopsy) had 44%. Category B (Autopsy confirmed all Ultrasound findings, but provided additional information of congenital anomalies) includes 38%. Category C (US findings were only partially demonstrated at Foetal autopsy; some anomalies revealed at US weren't verified at autopsy) includes 14% and Category D (Total disagreement between US and autopsy findings includes 4%; malformation whose diagnostic technique led to termination of pregnancy wasn't demonstrated at autopsy. Foetuses with multiple congenital anomalies two of the cases showed Meckel Gruber Syndrome includes a triad of Central systemanervosum malformation (Occipital encephalocoele), Polydactyly (postaxial) and Renal cystic dysplasia.