The general goal of fetal necropsy when CNS malformation is suspected is to confirm the radiologic impression of brain and/or spinal cord malformations as well as to detect any additional anomalies that could guide further parental counseling and genetic testing, if necessary. Parents may elect to terminate a pregnancy based on neuroimaging observations of CNS or there may be fetal death. Postmortem examination in conjunction with cytogenetic and molecular analysis is then crucial to providing an accurate diagnosis that can be used to counsel parents regarding possible future pregnancies.

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Postmortem Examination of Perinatal Brain and Spinal Cord Malformations

  • Patrick Shannon,
  • Sumit Das,
  • Yael Fisher

摘要

The general goal of fetal necropsy when CNS malformation is suspected is to confirm the radiologic impression of brain and/or spinal cord malformations as well as to detect any additional anomalies that could guide further parental counseling and genetic testing, if necessary. Parents may elect to terminate a pregnancy based on neuroimaging observations of CNS or there may be fetal death. Postmortem examination in conjunction with cytogenetic and molecular analysis is then crucial to providing an accurate diagnosis that can be used to counsel parents regarding possible future pregnancies.