The genetic autopsy

Area of Science:

• Medical Genetics
• Pathology
• Pediatrics

Background:

• Autopsies are essential for diagnosing fetal abnormalities.
• Genetic and metabolic diseases contribute significantly to perinatal and pediatric mortality.
• Advanced imaging techniques have limitations in identifying certain congenital anomalies.

Purpose of the Study:

• To evaluate the significance of perinatal and pediatric autopsies in identifying genetic and metabolic diseases.
• To highlight the role of genetic investigations within the autopsy process.
• To underscore the autopsy's value beyond prenatal imaging.

Main Methods:

• Review of recent comparative studies on autopsy versus imaging diagnosis.
• Analysis of the diagnostic yield of genetic testing in fetal and pediatric autopsies.
• Inclusion of cases with macerated fetuses and sudden unexpected death.

Main Results:

• Autopsies identify abnormalities missed by ultrasound and MRI, crucial for syndromic conditions.
• Genetic testing in autopsies aids diagnosis in intrauterine growth restriction and stillbirth.
• New techniques improve diagnostic yield, even in macerated fetuses and sudden unexpected deaths.

Conclusions:

• Fetal autopsies are the gold standard for diagnosing fetal abnormalities.
• Genetic studies are integral to autopsies for congenital malformations and unexplained deaths.
• Autopsy and genetic analysis are vital for diagnosing sudden unexpected death in infancy, childhood, and adolescence.