Peri-mortem evaluation of infants who die without a diagnosis: focus on advances in genomic technology

Area of Science:

• Genetics
• Neonatal Medicine
• Pediatric Pathology

Background:

• Many infant deaths lack a confirmed diagnosis, with potential genetic or non-genetic causes.
• Clinical decisions for investigations in dying or deceased infants are often uncertain for healthcare providers.
• Peri-mortem studies are crucial for diagnosing unexplained infant deaths.

Purpose of the Study:

• To review the current literature on evaluating unexplained neonatal and infantile deaths.
• To synthesize a diagnostic approach for these cases.
• To highlight the role of emerging genomic technologies in diagnosis.

Main Methods:

• Literature review of diagnostic evaluations for unexplained infant demise.
• Synthesis of a diagnostic strategy incorporating peri-mortem studies.
• Focus on the application of advanced genomic sequencing.

Main Results:

• Genetic disorders are a significant cause of infant mortality, often undiagnosed.
• Genomic sequencing offers advanced diagnostic capabilities for unexplained deaths.
• Interpretation of genomic findings requires detailed clinical and peri-mortem data.

Conclusions:

• A structured diagnostic approach is essential for unexplained infant deaths.
• Genomic technologies are increasingly vital for identifying genetic causes.
• Integrating clinical, peri-mortem, and genomic data improves diagnostic yield.