Congenital Malformations in Perinatal Autopsies – A Study of 100 Cases

Abstract

Background: Congenital malformations remain a common cause of perinatal deaths and even though ultrasonogram can give fairly accurate diagnosis, perinatal autopsy is essential to confirm the diagnosis and look for associated malformations. Objectives:To emphasize the importance of perinatal autopsy in diagnosing congenital malformations and to compare the same with the prenatal ultrasound findings. Methods:The present study comprises 100 consecutive perinatal autopsies conducted after obtaining the approval from the Institutional Ethics Committee. In cases where prenatal ultrasound findings were available they were compared with the autopsy findings.Results: Out of 100 perinatal autopsies, 44 cases were congenital anomalies with M:F = 1:1.5. Majority of the fetuses with congenital malformations (36.36%) were therapeutically terminated, Cental nervous system malformations being the commonest indication. The most common timing of therapeutic termination being 20 -24weeks. Congenital malformations were common between 35-39 weeks gestational age and birth weight range 350-1000g. The malformations involving the central nervous system were commonest, seen in 15 cases (34.09%) followed by renal anomalies in 9 cases (20.45%) and multiple malformations in 7cases ( 15.91%). Autopsy confirmed the prenatal ultrasound findings in 50% of the cases, added to diagnosis in 29.54%, while it completely changed the primary diagnosis in 9.09% of the cases. Conclusion:This study highlights the importance of perinatal autopsy in confirming the diagnosis of congenital anomalies by prenatal ultrasound findings.Uma S andola, anita am, mUKta ahUja, Sainath K andola

Study of Congenital Malformations in Fetal and Early neonatal autopsies

“…In the present study, autopsy diagnosis confirmed ultrasonographic findings in 54 cases (94.74%), among these in 27 cases (47.37%) it provided additional information, whereas primary diagnosis given by ultrasonography was changed in 3 cases (5.26%). The findings in the present study are similar to those of Sankar and Phadake et al [23,28] The most common system involved was musculoskeletal followed by central nervous system. Similar finding was noted by Potekar et al, 2013, [22] Tomatir et al 2009, [8] and Andola US et al 2012.…”

“…Similar finding was noted by Potekar et al, 2013, [22] Tomatir et al 2009, [8] and Andola US et al 2012. [23] Various combinations of systems involved in malformations were noted. This could be attributed to same embryological period of development of different systems.In this study the 13/57 (22.80%) cases showed multiple malformations occurring in single fetus or neonate.…”

“…[20,22] Similar to other studies; fetuses with congenital malformations had the weight in the range of 350-1000 grams (low for gestational age) in the present study. [20,22,23] Maternal Factors: Maternal age is an important parameter in the birth of congenitally malformed fetuses. [18] Maximum number of fetuses 39 (68.42%) were born to mothers in age group of 20-24 years.…”

Perinatal autopsy evaluation of 2150 autopsies in the Çukurova region of turkey

“…The second most frequent abnormality in previous studies was either musculoskeletal system or urogenital system abnormalities as we also observed (7,9,10 Cardiovascular system anomalies are not easy to detect in the early weeks and in stillborn fetuses as the vascular structures are very fine and sensitive to dissection. Septal defects were the most frequent anomalies (45 of 88 cases) followed by complex anomalies in 27 cases, similar to the results of Ramalho et al (11).…”

Fetal Autopsy Study Over a Two Year Period

“…The incidence for urogenital anomalies has been reported as 16.6%, [2] and 4.2 % by Favorito et al [8] Andola et al [9] have reported 20.45 % of renal anomalies in a study of 100 cases. In our study there were 3 cases (13.04%) having renal abnormalities in the form of nonascent and underdevelopment of one kidney, bilateral multicystic kidneys and bilateral renal agenesis in one fetus each.…”