title: Clinical utility of fetal autopsy and its impact on genetic counseling.
abstract: OBJECTIVE
  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.
  
  
  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%).
  
  
  CONCLUSIONS
  The present study quantifies the utility of fetal autopsy in reproductive genetic counseling in a large cohort.
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Shalini S
authors.initials: SS
authors.lastname: Nayak
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Anju
authors.initials: A
authors.lastname: Shukla
authors.affiliation: Department of Pediatrics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Leslie
authors.initials: L
authors.lastname: Lewis
authors.affiliation: Department of Radiodiagnosis, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Rajagopal
authors.initials: R
authors.lastname: Kadavigere
authors.affiliation: Department of Pathology, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Mary
authors.initials: M
authors.lastname: Mathew
authors.affiliation: Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Prashanth K
authors.initials: PK
authors.lastname: Adiga
authors.affiliation: Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Akhila
authors.initials: A
authors.lastname: Vasudeva
authors.affiliation: Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Pratap
authors.initials: P
authors.lastname: Kumar
authors.affiliation: Department of Obstetrics and Gynecology, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Jyothi
authors.initials: J
authors.lastname: Shetty
authors.affiliation: Department of Orthopedics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Hitesh
authors.initials: H
authors.lastname: Shah
authors.affiliation: Department of Medical Genetics, Kasturba Medical College, Manipal University, Manipal, India.
authors.forename: Katta M
authors.identifier: http://orcid.org/0000-0002-0139-8239
authors.initials: KM
authors.lastname: Girisha
mesh_terms: D000025:Abortion, Eugenic; D000022:Abortion, Spontaneous; D001344:Autopsy; D000013:Congenital Abnormalities / Q000175:diagnosis*; D005260:Female; D005313:Fetal Death / Q000209:etiology*; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012189:Retrospective Studies