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.

Original languageEnglish
Pages (from-to)685-691
Number of pages7
JournalPrenatal Diagnosis
Volume35
Issue number7
DOIs
Publication statusPublished - 01-07-2015

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Genetic Counseling
Autopsy
Fetus
Counseling
Recurrence

All Science Journal Classification (ASJC) codes

  • Obstetrics and Gynaecology
  • Genetics(clinical)

Cite this

@article{74d4730794414e189d61ffc6acb4a66b,
title = "Clinical utility of fetal autopsy and its impact on genetic counseling",
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.",
author = "Nayak, {Shalini S.} and Anju Shukla and Leslie Lewis and Rajagopal Kadavigere and Mary Mathew and Adiga, {Prashanth K.} and Akhila Vasudeva and Pratap Kumar and Jyothi Shetty and Hitesh Shah and Girisha, {Katta M.}",
year = "2015",
month = "7",
day = "1",
doi = "10.1002/pd.4592",
language = "English",
volume = "35",
pages = "685--691",
journal = "Prenatal Diagnosis",
issn = "0197-3851",
publisher = "John Wiley and Sons Ltd",
number = "7",

}

TY - JOUR

T1 - Clinical utility of fetal autopsy and its impact on genetic counseling

AU - Nayak, Shalini S.

AU - Shukla, Anju

AU - Lewis, Leslie

AU - Kadavigere, Rajagopal

AU - Mathew, Mary

AU - Adiga, Prashanth K.

AU - Vasudeva, Akhila

AU - Kumar, Pratap

AU - Shetty, Jyothi

AU - Shah, Hitesh

AU - Girisha, Katta M.

PY - 2015/7/1

Y1 - 2015/7/1

N2 - 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.

AB - 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.

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