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Sacral meningocele with conotruncal heart defects: a possible autosomal recessive trait
Insights
A rare genetic condition may link sacral meningocele and conotruncal heart defects. This emphasizes the heterogeneity of neural tube and congenital heart defects, with a significant recurrence risk.
Area of Science:
- Genetics
- Developmental Biology
- Pediatric Medicine
Background:
- Sacral meningocele and conotruncal heart defects are serious congenital anomalies.
- These defects often require significant medical intervention and can have high mortality rates.
- Understanding the genetic basis and recurrence risks is crucial for affected families.
Observation:
- A sibship presented with a unique combination of sacral meningocele, hydrocephaly, and conotruncal heart defects (transposition of the great vessels, truncus arteriosus type I).
- Prenatal diagnosis in one sibling revealed an open neural tube defect with elevated alpha-fetoprotein and increased rapidly adhering amniotic cells.
- Two siblings died neonatally due to severe congenital heart defects.
Findings:
- The co-occurrence of sacral meningocele and conotruncal malformations in this family suggests a novel autosomal recessive disorder.
- This finding highlights the significant heterogeneity within both open neural tube defects and congenital heart defects.
- Elevated alpha-fetoprotein and specific amniotic cell culture findings may aid in prenatal diagnosis.
Implications:
- This potential new genetic condition carries a 25% recurrence risk, differing from isolated defects.
- Increased awareness is vital for genetic counseling and prenatal diagnosis of this specific variant.
- Accurate prenatal diagnosis of subtle neural tube defects remains challenging but critical.
Abstract:
Three of four siblings had sacral meningocele with subsequent development of hydrocephaly; two died during the neonatal period due to conotruncal heart defects (transposition of the great vessels and truncus arteriosus type I, respectively). An in utero diagnosis of open neural tube defect was made on the third sibling; persistent slightly elevated alpha-fetoprotein levels in amniotic fluid and increased number of rapidly adhering cells in short term amniotic cell culture were found. The unique combination of sacral meningocele and conotruncal malformations in this sibship suggests a new autosomal recessive condition. It also emphasizes the heterogeneity of both the open neural tube defects and congenital heart defects. Awareness of this variant is necessary in regard to the 25% recurrence risk instead of the 3% to 5% recurrence risk given for both congenital heart defects and open neural tube defects as isolated anomalies. The difficult prenatal diagnosis for the small neural tube defect should be appreciated.