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Prognostic factors, psychomotor development and life of trisomy 13 patients
Hirokazu Yamagishi1, Hitoshi Osaka1, Yukifumi Monden1
1Department of Pediatrics, Jichi Medical University, Tochigi, Japan.
Insights
Infants with trisomy 13 often have poor prognoses, but aggressive interventions can improve survival. Long-term survivors require significant care, and while some development is possible in those without severe brain anomalies, clear prognostic factors remain elusive.
Area of Science:
- Pediatrics
- Genetics
- Developmental Biology
Background:
- Trisomy 13 is associated with high infant mortality.
- Aggressive interventions may improve prognosis and long-term survival.
- Limited data exists on psychomotor development in trisomy 13.
Purpose of the Study:
- To investigate prognostic factors, living circumstances, and developmental status of infants with trisomy 13.
- To clarify the outcomes of aggressive interventions for trisomy 13 complications.
- To assess the psychomotor development of trisomy 13 survivors.
Main Methods:
- Retrospective analysis of clinical records from Jichi Medical University Hospital.
- Enrollment of patients with trisomy 13 admitted to the pediatrics department.
- Categorization of patients into early death (<1 year) and long-term survival (>1 year) groups.
Main Results:
- Severe congenital heart disease and heart failure by age 1 were linked to early death.
- Long-term survivors underwent surgical interventions (tracheostomy, gastrostomy) and utilized home nursing/social care.
- Some survivors without severe brain anomalies achieved milestones like rolling over and sitting by age 3, but none could stand or speak intelligibly.
Conclusions:
- Long-term survival in trisomy 13 necessitates extensive medical and nursing care.
- Medical and welfare services are crucial to support families of survivors.
- Psychomotor development is possible in trisomy 13 patients without severe brain anomalies, though specific prognostic factors are not yet identified.
Background:
Infants with trisomy 13 have a very high mortality rate. However, aggressive interventions for their complications, can improve their prognosis and may, thereby, increase the number of long-term survivors with trisomy 13. To date, there is no study on the psychomotor developmental progress of patients with trisomy 13. We conducted this survey to clarify the prognostic factors, living circumstances, and developmental status of infants the trisomy 13.
Methods:
Patients with trisomy 13 who were admitted to the Department of Pediatrics, Jichi Medical University Hospital were enrolled. Their clinical data were investigated retrospectively using clinical records.
Results:
Nine patients with trisomy 13 were enrolled and divided into the early death (died at <1 year) and long-term survival (survived for >1 year) groups. All the early death group patients had severe congenital heart disease. Heart failure at under 1 year of age was associated with early death. All the long-term survival group patients underwent operations (e.g. tracheostomy or gastrostomy) and all used home nursing and/or a social care service. Three patients used home mechanical ventilation. None of the patients was able to stand alone or speak intelligible words. Two patients without severe brain anomalies were able to roll over, sit up, and smile by 3 years of age.
Conclusions:
Long-term survivors with trisomy 13 require extensive nursing and medical care. It is important to provide medical and welfare services to reduce the burden on families. In patients without severe brain anomalies, psychomotor development may be expected. However, no clear developmental prognostic factors were found.
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