How does Fetal Autopsy after Pregnancy Loss or Termination for Anomalies and other Complications Change Recurrence Risk?

Abstract

Objective Historically, fetal autopsy was common after terminations for anomalies. Previous studies report that fetal autopsy confirms ultrasound findings in the majority of cases. This study aims to examine correlation between prenatal and autopsy diagnoses at University of California, San Francisco (UCSF) and evaluate whether autopsy adds diagnostic information, specifically information that changes risk of recurrence for future pregnancies. Study Design We conducted a retrospective chart review of all fetal autopsies performed at UCSF between 1994 and 2009. Prenatal diagnosis was compared with autopsy diagnosis; for cases where there was a change in diagnosis, an MFM (maternal-fetal medicine specialist) reviewed the case to assign risk of recurrence before and after autopsy. Results Overall, there was concordance between prenatal diagnosis and autopsy diagnosis in greater than 91.7% of cases. Autopsy added information that resulted in a change in recurrence risk in 2.3% of cases ( n = 9). Conclusion For the vast majority of cases, there is agreement between prenatal and autopsy diagnosis after pregnancy loss or termination for fetal anomalies. Only a small percentage of autopsies change recurrence risk. This may be useful when counseling women about method of termination and when counseling couples about whether to have an autopsy.

Dilemma after termination of pregnancy due to urogenital fetal anomalies: Discrepancy between prenatal ultrasonographic diagnosis and autopsy

“…and in recurrence risk (3.9%, particularly for neurologic, genitourinary, and multiple anomalies) based on autopsy findings. 4 In fact, although several studies including fetuses from all gestational weeks, spontaneous abortions, and neonatal deaths emphasized a strong correlation between ultrasound and autopsy, 4,5 the studies specifically included fetal malformations detected at prenatal ultrasound in second-trimester termination of pregnancy and revealed discrepancies between ultrasound and autopsy findings in about 40% of cases, emphasizing the importance of autopsy examination after every termination of pregnancy. 3,10,11 In particularly, in a systematic review of 19 studies with 3534 fetuses on the correlation between fetal autopsy and ultrasound findings of fetal malformations that resulted in pregnancy terminations, the authors reported that autopsy findings confirmed prenatal ultrasound in 2401 (68.0%) fetuses, provided additional information in 794 (22.5%) fetuses, and did not confirm prenatal ultrasound in 329 (9.2%) fetuses.…”

“…Technical advancements in imaging techniques have enabled high‐resolution prenatal ultrasonography with a higher diagnostic accuracy in detection rate of fetal malformations 1–4 . Nonetheless, in pregnancy terminations based on prenatal prediction of fetal anomalies, fetal autopsy is important in terms of assessing the quality and accuracy of prenatal ultrasound findings on fetal anomaly as well as for the potential implications of detected malformations for future pregnancies 1–4 . Hence, a prenatal ultrasound examination and a subsequent detailed fetal autopsy provide the basis for a correct diagnosis in pregnancies terminated because of congenital anomalies; fetal autopsy is regarded as the reference standard for assessing the accuracy of prenatal ultrasound 3,5–8 …”

“…Given that both methods have intrinsic limitations—with not all autopsy findings being detectable by ultrasound and vice versa—studies comparing ultrasound and autopsy findings are considered important to reveal the level of accuracy of the prenatal diagnosis. This is valuable not only for parents and physicians but also for genetic counseling, determination of recurrence risk, and epidemiologic analysis 1,2,4,5 …”

“…Although congenital urinary system anomalies represent a large group of fetal anomalies, most studies have addressed the prenatal detection rates of overall major urinary system anomalies rather than specifically focusing on particular organ systems or minor renal anomalies 1–5,9 …”

“…This is valuable not only for parents and physicians but also for genetic counseling, determination of recurrence risk, and epidemiologic analysis. 1,2,4,5 Although congenital urinary system anomalies represent a large group of fetal anomalies, most studies have addressed the prenatal detection rates of overall major urinary system anomalies rather than specifically focusing on particular organ systems or minor renal anomalies. [1][2][3][4][5]9 This study aimed to investigate the agreement and disagreement between prenatal ultrasound and fetal autopsy findings in pregnancy terminations specifically due to urogenital anomalies.…”