Correlation between prenatal ultrasound and fetal autopsy findings in fetal anomalies terminated in the second trimester

Abstract

Objective: The aim of the study was to compare the consistency of major/minor fetal anomalies detected by second trimester prenatal ultrasound examination with the findings in fetal autopsies following the termination of pregnancy (TOP) in the second trimester.

Design: In a 4-year long prospective study, 107 second-trimester TOP was performed due to fetal malformation diagnosed by second trimester-ultrasound examination at a tertiary referral center. Ultrasound findings were compared with fetal autopsy findings.

Result: Of the 107 cases with major fetal anomalies diagnosed by prenatal ultrasound, 49% had central nervous system anomalies, 23% had kidney and urinary tract anomalies, 11% had congenital heart disease. All of these major anomalies leading to TOP were confirmed by fetal autopsy (100% success rate in major anomalies). Overall success rate in prenatal ultrasound for major and minor anomalies was 77%. The percentage of additional minor anomalies detected in fetal autopsies was 20%. Three percent of the minor anomalies detected by prenatal ultrasonography could not be confirmed during autopsy. Chromosomal anomalies were detected in 9 (16%) out of 57 cases.

Conclusion: Evaluation of fetal autopsies following TOP enables diagnosis of pathologies undetected by prenatal ultrasound alone, leading to better preconceptional counseling for subsequent pregnancies.