Clinical utility of fetal autopsy and comparison with prenatal ultrasound findings

Abstract

Objectives: To present a comprehensive analysis of autopsy findings in 206 fetuses referred to our genetic center and to assess the clinical utility of fetal autopsy in reaching a final diagnosis, which is essential for counseling regarding the risk of recurrence. We also compared the autopsy findings with prenatal ultrasound findings to evaluate the potential benefit of fetal autopsy in fetuses terminated after prenatal diagnosis of malformations.Study design: Retrospective review of patient records in a tertiary referral genetic center in North India during 5-year period (April 2000-March 2005. This includes 206 fetuses, 138 terminated after detecting an anomaly in ultrasonogram and 68 spontaneous fetal losses. In all cases, fetal autopsy was carried out and complimented by radiography, karyotype wherever possible and histopathological examination wherever necessary. In fetuses with prenatally diagnosed malformations, ultrasound findings were compared with autopsy findings.Results: Fetal autopsy was able to provide a definite final diagnosis in 59% (122/206) cases. Fetal autopsy confirmed the ultrasound findings in all cases but two. Moreover, autopsy provided additional findings in 77 cases and of these, 24 cases had a significant change of recurrence risk. Conclusion:This study confirms the utility of fetal autopsy in identifying the cause of fetal loss, which will help in the genetic counseling of the couple. In cases with prenatally diagnosed anomalies, the new information from fetal autopsy changes the predicted probability of recurrence in 18% cases. Even though the prenatal ultrasonogram reasonably predicts the malformations, fetal autopsy gives significant additional malformations in one-third of the cases and is essential for genetic counseling.

Foetal Autopsy-Categories and Causes of Death

“…Faye Petersen and colleagues [5] found that one-third of fetal deaths were caused by structural anomalies of which neural tube defects, hydrops and congenital heart disease were the most common. Neural tube defects have recurrence risk of 5% [9] as were seen in two of our cases. Birth defects are currently the leading cause of infant mortality accounting for 20% of all infant deaths [10].…”

“…Congenital malformations remain a common cause of perinatal death and account for 25-30% in developed countries like India [9]. In all 3% neonates have a major congenital malformation and 0.7% has multiple congenital defects.…”

“…In all 3% neonates have a major congenital malformation and 0.7% has multiple congenital defects. Cases with multiple congenital malformations were specific to autosomal recessive single gene disorder that have recurrence risk of 25% [9]. Majority of stillbirths attributed to fetal causes in the Winsconsin Stillbirth Service Program had a major structural malformation identified at autopsy [7].…”

Minimally invasive fetal postmortem examination using magnetic resonance imaging and computerised tomography: current evidence and practical issues

“…Perinatal autopsy findings are reported to broadly agree with the prenatal clinical diagnosis in 30 to 90% of the cases, depending on the population studied, but change the final diagnosis in 10 to 40%, with additional findings that do not change the clinical diagnosis reported in up to an additional 25% of postmortem examinations. Overall, therefore, in around 30% of the perinatal postmortem examinations, some additional information is obtained from autopsy which changes either the underlying diagnosis or information given to parents during counselling (Gordijn et al, 2002;Amini et al, 2006;Sankar and Phadke, 2006;Akgun et al, 2007;Gordijn et al, 2007). The likelihood of gaining such information is also related to the specialist status of the pathologist, with significantly more findings reported when the autopsy is performed by paediatric specialist, compared to general, histopathologists, and other factors such as the length of time between death and autopsy (Vujanic et al, 1998;Gordijn et al, 2002).…”

The Role of Radiographs in Fetal Autopsy

“…There are many publications supporting the utility of fetal autopsy in confirming/altering the antenatal diagnosis and helping in the counseling of the families for future reproductive options [1][2][3]. It thus serves as an audit for the services provided by the department of fetal medicine [4,5].…”