Pediatric and Developmental Pathology

, Volume 2, Issue 2, pp 131–142

Correlation of Prenatal Ultrasound Diagnosis and Pathologic Findings in Fetal Anomalies

  • Chen-Chih J.  Sun
  • Kathryn  Grumbach
  • Donna T.  DeCosta
  • Carol M.  Meyers
  • Jeffrey S.  Dungan

DOI: 10.1007/s100249900101

Cite this article as:
Sun, CC., Grumbach, K., DeCosta, D. et al. Pediatr. Dev. Pathol. (1999) 2: 131. doi:10.1007/s100249900101

ABSTRACT

This retrospective study compared the prenatal ultrasound (US) diagnosis with autopsy findings in 61 intact fetuses following induced abortion and 36 fragmented fetuses from dilatation and evacuation (D&E). In intact fetuses, complete agreement between US diagnosis and autopsy findings was achieved in 65.6% of cases in the central nervous system (CNS) and 47.5% in other somatic organ systems (SOS). There were major differences between US and autopsy findings involving the CNS in 6.5% of cases and SOS in 27.9%. Correlation was better for evaluation of renal anomalies (complete agreement in 63.6% of 11 suspected cases, 2 false-positive and no false-negative cases) than congenital heart disease (complete agreement in 27.3% of 11 suspected cases, 5 false-positive and 3 false-negative cases). In D&E specimens, a prenatal diagnosis of neural tube defect (NTD) was confirmed in 90% of cases. However, due to fragmentation of fetal parts, the US diagnosis in the CNS could not be confirmed totally (69.4%) or partially (2.8%) in fetuses with chromosomal abnormalities (ChA) or multiple congenital anomalies (MCA). Nonetheless, the US diagnosis of SOS was confirmed in six cases on D&E, including Meckel-Gruber syndrome, cystic hygroma, renal agenesis with contralateral renal dysplasia, cardiac defect, fetal hydrops, and tracheal atresia. Our results show that a thorough autopsy of an intact fetus after abortion is necessary to confirm prenatal diagnosis and allow proper management and counseling. The pathologic examination of D&E specimens can reliably confirm the US diagnosis of NTD, but it is very limited in identifying other fetal anomalies.

Key words: fetal autopsy, prenatal ultrasound, neural tube defect, chromosomal abnormality, multiple congenital anomalies, dilatation and evacuation

Copyright information

© Springer-Verlag New York Inc. 1999

Authors and Affiliations

  • Chen-Chih J.  Sun
    • 1
  • Kathryn  Grumbach
    • 2
  • Donna T.  DeCosta
    • 2
  • Carol M.  Meyers
    • 3
  • Jeffrey S.  Dungan
    • 3
  1. 1.Department of Pathology and Pediatrics, School of Medicine, University of Maryland, 655 W. Baltimore Street, Baltimore, MD 21201, USA US
  2. 2.Department of Diagnostic Radiology, School of Medicine, University of Maryland, 655 W. Baltimore Street, Baltimore, MD 21201, USA US
  3. 3.Department of Obstetrics, Gynecology and Reproductive Sciences, School of Medicine, University of Maryland, 655 W. Baltimore Street, Baltimore, MD 21201, USA US