Skeletal malformations in perinatal autopsy

Abstract

Introduction :Congenital malformations are the fifth most common cause of perinatal morbidity and mortality in India, out of which skeletal malformations constitute about 20%. We conducted this study in our center to look various skeletal malformations in perinatal autopsy.Materials and methods:Present study comprises of 200 cases of perinatal autopsies from January 2018 to July 2019, out of which only 20 cases which had skeletal malformations were studied.Results:In total of 20 cases, 5 cases were of Anencephaly with spinal defect, 4 cases of Spina bifida, 2 cases of Sirenomelia, 2 cases of Potters Syndrome, 2 cases of lemon skull, 1 OEIS complex, 1 Edward Syndrome. Remaining 3 were of iniencephaly, club foot and club hand and short femur length. These 3cases presented as sole skeletal deformity.Conclusion:Nevertheless, skeletal malformations can be detected on antenatal screening; fetal autopsy helps to identify and study various skeletal malformations in detail and helps in preconceptional genetic counseling.