Surveillance guidelines for children with trisomy 18.

Area of Science:

• Genetics
• Pediatrics
• Medical Genetics

Background:

• Trisomy 18 is a common aneuploidy with high infant mortality (75-95%) due to congenital anomalies.
• Survival rates are increasing due to advanced interventions for life-threatening conditions.

Purpose of the Study:

• To provide a comprehensive overview of complications in children with Trisomy 18.
• To guide the development of monitoring and treatment guidelines for healthcare providers.
• To present screening recommendations for early detection of complications.

Main Methods:

• Literature review of existing evidence on Trisomy 18 complications.
• Synthesis of data on cardiac, respiratory, neurological, and other associated conditions.
• Identification of evidence-based screening and management strategies.

Main Results:

• Trisomy 18 presents with a wide range of complications beyond cardiac malformations, including respiratory, neurological, neoplastic, genitourinary, abdominal, otolaryngologic, and orthopedic issues.
• Increased survival necessitates proactive management of these diverse health problems.
• Screening recommendations are provided where evidence is available.

Conclusions:

• Comprehensive management strategies are crucial for improving the quality of life for children with Trisomy 18.
• Early detection and documentation of complications through screening are vital.
• This review serves as a resource for healthcare providers managing long-term care for Trisomy 18 patients.