Clinical utility of fetal autopsy and its impact on genetic counseling. (5th April 2015)

• Record Type: Journal Article
• Authors: Nayak, Shalini S.; Shukla, Anju; Lewis, Leslie; Kadavigere, Rajagopal; Mathew, Mary; Adiga, Prashanth K.; Vasudeva, Akhila; Kumar, Pratap; Shetty, Jyothi; Shah, Hitesh; Girisha, Katta M.
• Is Part Of: Prenatal diagnosis. Volume 35:Number 7(2015:Jul.)
• Page Start: 685
• Page End: 691
• Publication Date: 2015-04-05
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4592
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <sec id="pd4592-sec-0001" sec-type="section"> <title>Objectives</title> <p>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.</p> </sec> <sec id="pd4592-sec-0002" sec-type="section"> <title>Subjects and methods</title> <p>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.</p> </sec> <sec id="pd4592-sec-0003" sec-type="section"> <title>Results</title> <p>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%).</p> </sec> <sec id="pd4592-sec-0004" sec-type="section"> <title>Conclusion</title> <p>The present study quantifies the utility of fetal autopsy in reproductive genetic counseling in a large cohort. © 2015 John Wiley & Sons, Ltd.</p> </sec> </abstract>