The Role of the Pathologist in the Diagnosis of Fetal Heart Disease


The importance of autopsy in the event of fetal or neonatal death is widely demonstrated in several studies [1, 2, 3]. Thanks to the diagnostic power now provided by cross-sectional echocardiography, most structural and functional congenital heart diseases can be identified during fetal life. However, it is unreasonable to expect 100% sensitivity in all cases. In fact, many drawbacks can limit the ultrasonic examination, such as gestational age at the time of scan, fetal position, ultrasonic impedance of the maternal abdomen, examiner experience, and types of equipment used. In case of termination or spontaneous intrauterine death autopsy is still a valuable tool that provides clinicopathological correlation for clinicians and gives information to families regarding the risk of recurrence of specific diseases in future pregnancies. In the latter instance, evaluations can be made earlier in gestation, allowing informed decisions that will be in the best interest of the mother and fetus.


Great Artery Arterial Duct Monary Vein Cardiac Specimen Fetal Heart Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Bove KE (1997) Practice guidelines for autopsy pathology: the perinatal and pediatric autopsy. Autopsy Committee of the College of American Pathologists. Arch Pathol Lab Med 121:368–376PubMedGoogle Scholar
  2. 2.
    Gordijn SJ, Erwich JJHM, Khong TY (2002) Value of perinatal autopsy: critique. Pediatr Devel Pathol 5:480–488CrossRefGoogle Scholar
  3. 3.
    Siebert JR, Kapur RP (2000) Congenital anomalies in the fetus: approaches to examination and diagnosis. Path Case Rev 5:3–13CrossRefGoogle Scholar
  4. 4.
    Redfern M, Keeling JW, Powell E (2001) The Royal Liverpool Children’s Inquiry Report. The Stationary Office, Norwich, UKGoogle Scholar
  5. 5.
    Kennedy L (2001) The report of the public inquiry into children’s heart surgery at The Bristol Royal Infirmary 1984–1995. Learning from Bristol. The Stationary Office, Norwich, UKGoogle Scholar
  6. 6.
    Cook CA, Yates RW, Anderson RH (2004) Normal and abnormal fetal cardiac anatomy. Prenat Diagn 24:1032–1048CrossRefPubMedGoogle Scholar
  7. 7.
    Sheaff MT, Hopster DJ (2005) Post mortem technique handbook. Springer, London, pp 119–140Google Scholar
  8. 8.
    Gilbert-Barness E, Debich-Spicer DE (2005) Handbook of pediatric autopsy pathology, Humana Press, Totowa, pp 191–250Google Scholar
  9. 9.
    Gilbert-Barness E (2007) Potter’s pathology of the fetus, infant and child, 2nd edn. Mosby Elsevier, Philadelphia, pp 969–1071Google Scholar
  10. 10.
    Brodlie M, Laing IA, Keeling JW, et al (2002) Ten years of neonatal autopsies in a tertiary referral centre: retrospective study. BMJ 324:761–763CrossRefPubMedGoogle Scholar
  11. 11.
    Okah FA (2002). The autopsy: experience of a regional neonatal intensive care unit. Paediatr Perinat Epidemiol; 16:350–354CrossRefPubMedGoogle Scholar
  12. 12.
    Ros PR, Li KC, Vo P et al (1990) Preautopsy magnetic resonance imaging: initial experience. Magn Reson Imaging 8:303–308CrossRefPubMedGoogle Scholar
  13. 13.
    Brookes JS, Hagmann C (2006) MRI in fetal necroscopy. J Magn Reson Imag 24:1221–1228CrossRefGoogle Scholar
  14. 14.
    Jackowski C, Schweitzer W, Thali M et al (2005) Virtopsy; postmortem imaging of the human heart in situ using MSCT and MRI. Forensic Sci Int 149:11–23CrossRefPubMedGoogle Scholar
  15. 15.
    Woodward PJ, Sohaey R, Harris DP et al (1997) Postmortem fetal MR imaging: comparison with findings at autopsy. AJR Am J Roentgenol 168:41–46PubMedGoogle Scholar
  16. 16.
    Alderliesten ME, Peringa J, van der Hulst VP et al (2003) Perinatal mortality: clinical value of postmortem magnetic resonance imaging compared with autopsy in routine obstetric practice. BJOG 110:378–382CrossRefPubMedGoogle Scholar
  17. 17.
    Huisman TA, Wisser J, Stallmach T et al (2002) MR autopsy in fetuses. Fetal Diagn Ther 17:58–64CrossRefPubMedGoogle Scholar
  18. 18.
    Sebire NJ (2006) Towards the minimally invasive autopsy? Ultrasound Obstet Gynecol 28:865–867CrossRefPubMedGoogle Scholar
  19. 19.
    Aiello VD, Debich-Spicer D, Anderson RH (2007) Is there still a role for cardiac autopsy in 2007? Cardiol Young 17:97–10CrossRefPubMedGoogle Scholar
  20. 20.
    Bussolati G, Marchiò C, Volante M (2005) Tissue arrays as fiducial markers for section alignment in 3-D reconstruction technology. J Cell Mol Med 9:438–445CrossRefPubMedGoogle Scholar
  21. 21.
    Fredouille C, Morice JE, Delbecque K et al (2006) New fetopathological section of the heart. Correlated to the ultrasonographic 4-chamber view in fetuses. Ann Pathol 26(1):60–65CrossRefPubMedGoogle Scholar
  22. 22.
    Van Praagh R (1972) The segmental approach to diagnosis in congenital heart disease. In: Bergsma D (ed) Birth defects original article series, vol VIII, no. 5, The National Foundation — March of Dimes. Williams & Wilkins, Baltimore, pp 4–23Google Scholar
  23. 23.
    Anderson RH, Ho SY (1977) Continuing medical education, Sequential segmental analysis-description and categorization for the Millenia. Cardiol Young 7:98–116Google Scholar
  24. 24.
    Anderson RH (2000) Nomenclature and classification; sequential segmental analysis. In: Moller JH, Hoffman JIE (eds) Pediatric cardiovascular medicine. Churchill Livingstone, New York, pp 263–274Google Scholar
  25. 25.
    Varetto L, Gargallo C, Botta G et al (2008) Photographic documentation of autopsies. Minerva Medicoleg 128:1–7Google Scholar

Copyright information

© Springer-Verlag Italia 2008

Personalised recommendations