Role of fetal autopsy as a complementary tool to prenatal ultrasound

Abstract

Aim: 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.

Conclusion: 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.

• Autopsy
• genetic diagnosis
• prenatal
• ultrasound

Acknowledgements

We thank all the referring obstetricians who submitted specimens for fetal autopsy. We also thank Dr Shilpa Kulkarni, our Prenatal Program Coordinator for her assistance in archiving the data for this retrospective analysis.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of this article.