Original Article This work is licensed under the Creative Commons Attribution 4.0 License. Published by Pacifc Group of e-Journals (PaGe) Study of Congenital Malformations in Fetal and Early Neonatal Autopsies Introduction Congenital means “Present since birth”. Congenital malformation is a physical, metabolic or anatomic defect which is apparent before birth, at birth or detected during the frst year of life. Congenital malformations are a major cause of fetal and neonatal deaths as well as disability cases worldwide. The varying pattern and prevalence of congenital malformations over time or geographical location are known. It refects differing methods of detection and recording. There are also true differences in frequency due to the complex interaction of known and unknown genetic and environmental factors including socio-cultural, racial, and ethnic variables. For quite some time, congenital malformations have been reported to be a major cause of mortality and morbidity in children in the developed countries. [1-6] In the recent years, congenital disorders are becoming to be public health issue in developing countries, due to an epidemiological transition, which involves signifcant decline in infant mortality rates due to reduction of infections and malnutrition and relative increase of morbidity and mortality due to congenital malformations. [7-14] Antenatal investigations, such as ultrasonography (USG), maternal serum enzyme hormone assays cannot determine signifcant number of congenital malformations, for which autopsies are must. [15] Fetal and early neonatal autopsy in cases of congenital malformations not only confrms but also provides additional information and is helpful in counseling the parents regarding prevention of similar congenital malformations in future pregnancies. The variety and complexity of congenital anomalies found in perinatal and fetal autopsies are endless, and the Pathologist must be prepared to spend the necessary time demonstrating these anomalies. The majority of the malformations found in this perinatal population are lethal. It is essential to have basic epidemiological information on congenital malformation for planning health care services. This study is therefore undertaken to ascertain various congenital malformations and to classify those according to organ system involved and measure the utility of autopsy in fnal diagnosis. Materials and Method This descriptive analytical study was carried out in Department of Pathology of a tertiary care hospital from June 2014 to May 2016 for detection of congenital malformations in fetal and early neonatal autopsies. Pradnya Pandurang Kale*, Sujata R. Kanetkar, Dhirajkumar B. Shukla, Atul Bhanudas Hulwan Pramod Borade and Nikita Vinod Vohra Department of Pathology, Krishna Institute of Medical Sciences, Karad, Satara, Maharashtra, India ABSTRACT Background: Antenatal care in India is rising due to improvement in awareness; still few congenital malformations can be missed in routine check-ups. One lost baby due to birth defects raises questions like; did the malformation led to death, what was the exact nature of malformation, will it recur in next pregnancy and are there any preventive measures? Few congenital malformations can be diagnosed prenatally with ultrasonography techniques, various maternal serum assays, confrmation relies on actual examination of the fetus or neonate. These techniques cannot identify large proportion of congenital malformations for which perinatal autopsy remains the gold standard investigation. The result of a perinatal autopsy may have broad impact, in that obstetrical, fetal, maternal, paternal, and familial conditions may be uncovered. Methods: The descriptive analytical study was carried out in Department of Pathology of a tertiary care hospital from June 2014 to May 2016 for detection of congenital malformations in fetal and early neonatal autopsies in 5 years. Conclusion: Despite advances in imaging such as antenatal ultrasonography and serology, perinatal autopsy is superior and continues to play an important role in diagnosing congenital malformations. The fndings of autopsy are not only of theoretical importance but also of practical signifcance to clinicians in the form of estimating the risk of recurrence and in genetic counseling. Keywords: Congenital Malformations, Perinatal Autopsy, malformation Syndromes. DOI: 10.21276/APALM.1272