Lethal Congenital Malformations in Fetuses—Antenatal Ultrasound or Perinatal Autopsy

Background: Congenital malformations (CMF) are major causes of fetal demise which can be detected antenatally by Ultrasonography (USG). Methods: We studied 100 perinatal autopsies for CMF. Sensitivity of USG was determined and accuracy of USG with that of autopsy was compared. Results: At Autopsy 134 individual CMF were seen in 40 cases. The sensitivity of USG in detecting major CMF was 54.47%. A complete agreement between autopsy and USG findings was seen in 13/40 (32.5%) and partial agreement in 17/40 (42.5%) fetuses while autopsy completely changed antenatal diagnosis in 10/40 (25%) fetuses. Major findings were added in all 17 fetuses with partial agreement. In 2 cases, CMF suspected on USG were not detected on autopsy due to fetal maceration. Conclusion: Autopsy significantly adds to the prenatal USG diagnosis and may help in predicting the probability of recurrence, and thus counseling the affected couple to prevent any such future event.