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JOGC

No. 365-Fetal and Perinatal Autopsy in Prenatally Diagnosed Fetal Abnormalities with Normal Chromosome Analysis

      Abstract

      Objective

      To review the information on fetal and perinatal autopsies, the process of obtaining consent, and the alternative information—gathering options following a prenatal diagnosis of non-chromosomal anomalies in order to assist health care providers in providing postnatal counselling regarding diagnosis and potential recurrence risks.

      Outcomes

      To provide better counselling about fetal and perinatal autopsies for women and families who are dealing with a prenatally diagnosed non-chromosomal fetal anomaly.

      Evidence

      Published literature was retrieved through searches of PubMed or Medline, CINAHL, and The Cochrane Library in 2010, 2011, and 2017, using appropriate key words (fetal autopsy postmortem, autopsy, perinatal postmortem examination, autopsy protocol, postmortem magnetic resonance imaging, autopsy consent, tissue retention, autopsy evaluation). Results were restricted to systematic reviews, randomized controlled trials/controlled clinical trials, and observational studies. Additional publications were identified from the bibliographies of these articles. There were no date or language restrictions. Grey (unpublished) literature was identified through searching the websites of health technology assessment and health technology assessment-related agencies, clinical practice guideline collections, clinical trial registries, and national and international medical specialty societies.

      Benefits, harms, and costs

      This update educates readers about (1) the benefits of a fetal perinatal autopsy, (2) the consent process, and (3) the alternatives when the family declines autopsy. It also highlights the need for a standardized approach to fetal and perinatal autopsies, emphasizing pertinent additional sampling when indicated. The authors recognize that there is variability across Canada in access to the cited services and resources. As such, these recommendations were developed in an attempt to promote access and to provide a minimum standard for all provinces and territories across the country.

      Values

      The quality of evidence was rated using the criteria described in the Report of the Canadian Task Force on Preventive Health Care (Table).

      Recommendations

      • 1.
        Standard autopsy should ideally be an essential part of investigating second trimester fetal loss, stillbirths, and neonatal deaths associated with non-chromosomal fetal anomalies, as it has been demonstrated to add clinical information on potential etiology and recurrence risks in about 25% of cases (II-3A).
      • 2.
        Clinicians and health care providers approaching parents for autopsy consent should discuss the options for a full, limited, or step-wise postmortem examination; the issue of retained fetal tissues; and the value of autopsy and the possibility that the information gained may not benefit them but may be of benefit to others. This information should be provided while respecting the personal and cultural values of the families (III-A).
      • 3.
        If parents decline a full autopsy, alternatives to full autopsy that provide additional clinical information must be presented in a manner that includes disclosure of limitations (III-A).
      • 4.
        At this time, postmortem magnetic resonance imaging cannot function as a substitute for standard full autopsy (III-A).
      • 5.
        External physical examination, and when clinically indicated medical photographs, standard radiographic or computed tomography, should be offered in all cases of fetal anomaly(ies) of non-chromosomal etiology (II-2A).
      • 6.
        The synthesis of the fetal and perinatal autopsy data should be performed by trained perinatal or pediatric pathologists (II-2A).
      • 7.
        The need for additional sampling is guided by the results of previous prenatal and/or genetic investigations, as well as the type of anomalies identified in the fetus. If a biochemical disorder is suspected, fibroblast culture may allow future metabolic studies as well as DNA analysis, when clinically indicated (II-3A).
      • 8.
        In cases requiring special evaluation, the most responsible health provider should have direct communication with the feto-pathologist to ensure that all necessary sampling is performed in a timely manner (II-3A).
      • 9.
        The most responsible health provider must see the families in follow-up to share autopsy findings and plan for the management of future pregnancies. Consent for additional testing and genetic counselling to the couple and other family members should be performed through referral to a Medical Genetics service when clinically indicated and depending on local resources (III-A).

      Key Words

      Abbreviations:

      CGH (comparative genomic hybridization), MR (magnetic resonance), PMMR (Postmortem magnetic resonance), US (ultrasound)
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