Syndromes, disorders and maternal risk factors associated with neural tube defects (VI)

Area of Science:

• Developmental Biology
• Medical Genetics
• Public Health

Background:

• Neural tube defects (NTDs) represent a significant category of congenital anomalies.
• While multifactorial causes are common, syndromic, genetic, and environmental factors also contribute to NTDs.
• Understanding these diverse etiologies is crucial for diagnosis and prevention.

Purpose of the Study:

• To conduct a comprehensive review of syndromes, disorders, and maternal/fetal risk factors associated with NTDs.
• To highlight rare but important causes of NTDs.
• To differentiate the recurrence risk and folic acid's preventive role in syndromic NTDs versus nonsyndromic NTDs.

Main Methods:

• Literature review and synthesis of existing research on NTDs.
• Identification and categorization of associated syndromes, disorders, and risk factors.
• Analysis of the implications for recurrence risk and prevention strategies.

Main Results:

• Identified risk factors include maternal fumonisin consumption, zinc deficiency, pesticide exposure, low socioeconomic status, fetal alcohol syndrome, VANGL1 gene mutations, athymic Nude/SCID fetuses, and NOS3 gene polymorphisms.
• Syndromic and factor-associated NTDs are rare but critical causes.
• Recurrence risks and folic acid efficacy may differ compared to nonsyndromic NTDs.

Conclusions:

• Perinatal NTD diagnosis necessitates investigation into associated syndromes, disorders, and risk factors.
• Thorough etiologic investigation and genetic counseling are recommended.
• Distinguishing between syndromic and nonsyndromic NTDs is vital for appropriate management and counseling.