Shalini S Nayak1, Anju Shukla1, Leslie Lewis2, Rajagopal Kadavigere3, Mary Mathew4, Prashanth K Adiga5, Akhila Vasudeva5, Pratap Kumar5, Jyothi Shetty5, Hitesh Shah6, Katta M Girisha1. 1. Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India. 2. Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India. 3. Department of Radiodiagnosis, Kasturba Medical College, Manipal University, Manipal, India. 4. Department of Pathology, Kasturba Medical College, Manipal University, Manipal, India. 5. Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal University, Manipal, India. 6. Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.
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.
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.
Authors: S C Shelmerdine; J C Hutchinson; L Ward; T Sekar; M T Ashworth; S Levine; N J Sebire; O J Arthurs Journal: Ultrasound Obstet Gynecol Date: 2020-05 Impact factor: 7.299
Authors: J W Nijkamp; N J Sebire; K Bouman; F J Korteweg; J J H M Erwich; S J Gordijn Journal: Semin Fetal Neonatal Med Date: 2017-03-18 Impact factor: 3.926
Authors: Susan C Shelmerdine; J Ciaran Hutchinson; Celine Lewis; Ian C Simcock; Thivya Sekar; Neil J Sebire; Owen J Arthurs Journal: Insights Imaging Date: 2021-07-15