Congenital malformations in perinatal autopsy: a two-year prospective study

Area of Science:

• Pathology
• Medical Genetics
• Pediatrics

Background:

• Congenital malformations are a leading cause of perinatal mortality.
• Perinatal autopsy is essential for determining the cause of death and identifying anomalies.

Purpose of the Study:

• To detect and categorize visceral malformations in perinatal deaths.
• To establish clinicopathological correlations for congenital malformations.

Main Methods:

• Prospective study of 32 perinatal deaths (June 2007-May 2009).
• Detailed postmortem and histopathological examination of all cases.
• System-wise categorization of detected congenital malformations.

Main Results:

• Congenital malformations were identified in 10 cases (31.2% of perinatal deaths).
• A total of 64 malformations were observed, most commonly affecting the alimentary (20.31%), genito-urinary (18.75%), and musculoskeletal (17.18%) systems.
• Rare conditions like harlequin ichthyosis and Meckel Gruber syndrome were noted.

Conclusions:

• Perinatal autopsy is invaluable for detecting visceral malformations, often not suspected clinically.
• Findings aid in clinical diagnosis, parent counseling, and management of subsequent pregnancies.