The role of autopsy following pregnancy termination for fetal abnormality

To review the frequency of autopsy following pregnancy termination for fetal anomaly and its contribution to subsequent counselling.

All medical pregnancy terminations for fetal anomaly performed after 14 weeks gestation from January 1997 to December 2006 were identified and the frequency of autopsy ascertained. The prenatal diagnosis prompting the termination was then compared with the autopsy data, and a diagnostic valuation was determined. The potential autopsy value ranged from no additional information provided, minor added value, significant added value, major added value to non-confirmation of the prenatal findings.

During the ten-year study period, there were 1012 consecutive terminations for fetal abnormality. The principal indications for termination were: karyotypic (38.4%); neural tube defects (16.1%); cardiac (10.3%) and cerebral anomalies (7.5%). Autopsy was performed in 809 cases (79.9%). The autopsy rate progressively declined from 95.1% in 1997 to 67.5% in 2006 (P<0.001). Women declining autopsy were older (31 years (26,35) vs 32 years (27,37), P=0.005) and more likely to have a fetal chromosomal abnormality (30.6% vs 69.9%, P<0.001) (autopsy vs no-autopsy). In euploid cases, autopsy confirmed the prenatal diagnosis with no additional information in 63.5% (357 of 562). In 1.1% (six cases), autopsy added major diagnostic information, and in 15.1% (85 cases), significant information was provided.

Although contemporary prenatal testing has improved the recognition of fetal abnormalities, autopsy remains a valued tool by providing diagnosis or clarification of some prenatal findings in 16% of cases. Fetal autopsy rates are declining and this trend may lead to a loss of diagnostic and recurrence risk-counselling information.