BMJ  2004;328:137 (17 January), doi:10.1136/bmj.37939.570104.EE (published 8 December 2003)

Paper

Autopsy after termination of pregnancy for fetal anomaly: retrospective cohort study

¹ National Perinatal Epidemiology Unit, Institute of Health Sciences, Headington, Oxford OX3 7LF, ² Dipartimento di Ginecologia, Perinatologia e Riproduzione umana, Facolta di Medicina e Chirurgia, Universita degli Studi di Firenze, Viale Morgagni, 85, Florence, ³ Division of Public Health and Primary Care, Institute of Health Sciences, University of Oxford, Headington, Oxford OX3 7LF, ⁴ Prenatal Diagnosis Unit, Women's Centre, Oxford Radcliffe NHS Trust, Oxford OX3 9DU

Objective To study trends in termination of pregnancy for fetal anomaly over 10 years and to assess the contribution of autopsy to the final diagnosis and counselling after termination.

Design Retrospective study with cases from a congenital anomaly register and a defined unselected population.

Data sources Pregnancies resulting in termination for fetal anomaly identified from the Oxford congenital anomaly register. Details about the prenatal diagnosis and autopsy findings were retrieved from case notes.

Results Of the 57 258 deliveries, 309 (0.5%) were terminated because of prenatally diagnosed abnormality. There were 129/29 086 (0.4%) terminations for fetal anomaly carried out in 1991-5 and 180/28 172 (0.6%) in 1996-2000. The percentage of fetuses that underwent autopsy fell from 84% to 67%. Autopsy was performed in 132 cases identified by ultrasound scan, with no evidence for abnormal karyotype. In 95 (72%) the autopsy confirmed the suspected diagnosis and did not add important further information, two cases were not classified, and in 35 (27%) the autopsy added information that led to a refinement of the risk of recurrence (reduced in 17, increased in 18); in 11 of these 18 cases it was increased to a one in four risk.

Conclusions Though there has been an increase in the rate of terminations of pregnancy for fetal anomaly, there has been a decline in the autopsy rate. When a prenatal diagnosis was based on the results of a scan only, the addition of information from an autopsy by a specialist paediatric pathologist provided important information that changed the estimated risk of recurrence in 27% of cases and in 8% this was to a higher (one in four) risk.

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fetal echocardiography part of prenatal diagnosis

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