alexa Clinical utility of fetal autopsy and its impact on genetic counseling.


Journal of Medical & Surgical Pathology

Author(s): Nayak SS, Shukla A, Lewis L, Kadavigere R, Mathew M,

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Abstract OBJECTIVES: We aimed to analyze the utility of fetal autopsy in terms of its contribution to establishing a definitive diagnosis and its impact on genetic counseling. SUBJECTS AND METHODS: Detailed fetal autopsy was carried out in fetuses referred for examination. Clinical utility of fetal autopsy and its impact on counseling were measured by adapting previously published parameters. RESULTS: We performed autopsy in 230 fetuses. There were 106 cases with single system and 92 cases with multisystem involvement. We confirmed prenatal findings in 23\% of cases and observed additional findings in 37\% of cases. In 23\% of cases, autopsy findings differed enough to change the diagnosis. However, in 17\% of fetuses, no cause of fetal loss was determined. Risk of recurrence became clear in 30.3\% of the fetuses, and risk remained the same, but the diagnosis was different in 4.8\% of cases after autopsy. Hence, autopsy led to refinement of the risk of recurrence in 36\% of cases. Autopsy aided prenatal counseling of couples in 77\% of cases by either confirming the prenatal findings (35\%) or providing new information/ruling out a diagnosis (42\%). CONCLUSION: The present study quantifies the utility of fetal autopsy in reproductive genetic counseling in a large cohort. © 2015 John Wiley & Sons, Ltd. This article was published in Prenat Diagn and referenced in Journal of Medical & Surgical Pathology

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