Clinical utility of fetal autopsy and its impact on genetic counseling

Prenatal Diagnosis
Shalini S NayakKatta M Girisha

Abstract

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. 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. 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%). The present study quantifies the utility of fetal autopsy in reproductive genetic counseling in a large cohort.

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Citations

Sep 19, 2015·The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians·Shalini S NayakKatta M Girisha
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Aug 15, 2019·Clinical Genetics·Periyasamy RadhakrishnanKatta M Girisha
Dec 28, 2019·American Journal of Medical Genetics. Part a·Periyasamy RadhakrishnanShalini S Nayak
Jan 18, 2018·Fetal and Pediatric Pathology·Shagun AggarwalAshwin Dalal
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Jul 16, 2021·Insights Into Imaging·Susan C ShelmerdineOwen J Arthurs

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