How do you represent a deceased neonate in a pedigree chart?

Representation of a Dead Neonate in a Pedigree Chart

A dead neonate in a pedigree chart should be represented by a diamond symbol with a diagonal line through it, indicating death, with gender specified if known (male or female symbol) and gestational age noted below the symbol. 1

Standard Symbols for Deceased Neonates

According to the standardized pedigree nomenclature established by the National Society of Genetic Counselors, the following approach should be used:

For a deceased neonate:

• Use the appropriate gender symbol (square for male, circle for female) if gender is known
• Draw a diagonal line through the symbol to indicate death
• Include gestational age and/or age at death below the symbol
• If gender is unknown, use a diamond symbol with a diagonal line through it

Additional Information to Include:

• Write relevant clinical information below the symbol
• If genetic testing was performed, include results using the evaluation (E) notation
• Include the cause of death if known

Specific Notation Guidelines

When documenting a deceased neonate:

• Gender known: Use appropriate gender symbol (square/circle) with diagonal line
• Gender unknown: Use diamond symbol with diagonal line
• Order of information below the symbol should be:
  1. Gestational age and/or age at death
  2. Evaluation information (if available)
  3. Pedigree number (if applicable)

Common Pitfalls to Avoid

• Don't confuse with spontaneous abortion (SAB) notation: A neonate who was born alive and then died should be represented differently from a spontaneous abortion
• Don't omit the diagonal line: This is critical to indicate death
• Don't forget to include gestational age: This provides important clinical context
• Don't use abbreviations without defining them: Include a key/legend to define any abbreviations used

Special Considerations

For neonates with congenital anomalies or genetic conditions:

• The symbol should be shaded if the neonate was clinically symptomatic
• Include specific genetic findings (e.g., trisomy, mutation) if known
• For neonates who underwent genetic testing, include the results using proper evaluation notation

The standardized approach to pedigree notation ensures clear communication among medical professionals and genetic researchers, reducing the chances for incorrect interpretation of patient and family medical and genetic information 1, 2.