title: Role of fetal autopsy as a complementary tool to prenatal ultrasound.
abstract: OBJECTIVE
  To correlate and compare prenatal ultrasound with fetal autopsy examination to detect structural births defects and provide specific diagnoses.
  
  
  METHODS
  141 second trimester fetuses (<20 weeks and <500 g) where pregnancy was terminated for structural birth defects and/or severe intra-uterine growth restriction (IUGR) or intra-uterine death, referred to our tertiary care private, teaching hospital were examined by a team of experienced pathologist and clinical geneticist. Findings of pathology examination were compared to those provided by ultrasound examination.
  
  
  RESULTS
  A total of 301 structural abnormalities were noted. Specific etiology was identified or syndromic diagnosis was possible in 57/141 (40.4%) cases. The maximum number of systemic anomalies (45/301, 14.95%) was noted in the central nervous system (CNS). CNS anomalies were most commonly associated with facial dysmorphism including cleft lip/palate etc. There was a complete agreement between ultrasound and autopsy findings in 41/141 (29.07%) cases, additional information that did not influence the final diagnosis and/or counseling was obtained by autopsy in 65/1416 (46.09%) cases, while additional information that influenced the final diagnosis and/or counseling was provided by autopsy in 35/141 (24.82%) cases.
  
  
  CONCLUSIONS
  Fetal autopsy serves as a complementary tool to fetal ultrasound due to its ability to pick up minor anomalies and/or anomalies that were missed on ultrasound. It may be routinely performed as an attempt to reach a specific diagnosis and offer appropriate counseling to couples, following pregnancy termination for fetal anomalies.
authors: Department of Genetic Medicine .
authors: Koumudi
authors: K
authors: Godbole
authors: Vijayshri
authors: V
authors: Bhide
authors: Savitri
authors: S
authors: Nerune
authors: Aparna
authors: A
authors: Kulkarni
authors: Mrinalini
authors: M
authors: Moghe
authors: Asawari
authors: A
authors: Kanade
mesh_terms: D000328:Adult; D001344:Autopsy / Q000706:statistics & numerical data*; D002869:Chromosome Aberrations / Q000706:statistics & numerical data; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging / Q000453:epidemiology / Q000473:pathology*; D005260:Female; D005333:Fetus / Q000473:pathology*; D006801:Humans; D007194:India / Q000453:epidemiology; D016464:Lysosomal Storage Diseases / Q000175:diagnosis; D011247:Pregnancy; D012189:Retrospective Studies; D016216:Ultrasonography, Prenatal; D055815:Young Adult
keywords: Autopsy; genetic diagnosis; prenatal; ultrasound