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Surveillance guidelines for children with trisomy 18
Jeffrey W Kepple1, Kristen P Fishler2, Eric S Peeples3
1School of Medicine, Creighton University, Omaha, Nebraska, USA.
Insights
Trisomy 18 (Edwards syndrome) causes severe health issues and high infant mortality. Improved medical interventions are increasing survival, necessitating comprehensive guidelines for managing diverse complications in children with this condition.
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.
Abstract:
Trisomy 18 is the second most common aneuploidy syndromes in live born infants. It is associated with high mortality rates, estimated to be 75%-95% in the first year of life, as well as significant morbidity in survivors. The low survival is largely due to the high prevalence of severe congenital anomalies in infants with this diagnosis. However, interventions to repair or palliate those life-threatening anomalies are being performed at a higher rate for these infants, resulting in increased rates of survival beyond the first year of life. While it is well documented that trisomy 18 is associated with several cardiac malformations, these patients also have respiratory, neurological, neoplastic, genitourinary, abdominal, otolaryngologic, and orthopedic complications that can impact their quality of life. The goal of this review is to present a comprehensive description of complications in children with trisomy 18 to aid in the development of monitoring and treatment guidelines for the increasing number of providers who will be caring for these patients throughout their lives. Where the evidence is available, this review presents screening recommendations to allow for more rapid detection and documentation of these complications.
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