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Trisomy 21--incidence and outcomes in the first year, in Ireland today
Insights
The incidence of Trisomy 21 (Down syndrome) at Cork University Maternity Hospital was 1:411 live births. Most infants required neonatal admission and experienced significant co-morbidities, with a 9% mortality rate in the first year.
Area of Science:
- Pediatrics
- Genetics
- Public Health
Background:
- Trisomy 21 (Down syndrome) incidence in Ireland is the highest in Europe.
- Understanding local incidence and outcomes is crucial for resource allocation and care planning.
Purpose of the Study:
- To determine the incidence of Trisomy 21 in liveborn infants at Cork University Maternity Hospital (CUMH).
- To describe neonatal outcomes, co-morbidities, and first-year progress for infants with Trisomy 21.
Main Methods:
- Retrospective review of Social Work records, neonatal inpatient database, outpatient letters, and medical charts.
- Infants identified from births at CUMH during 2010-2011.
Main Results:
- 43 infants with Trisomy 21 were identified, yielding an incidence of 1:411 live births.
- Antenatal diagnosis was low (14%). Common co-morbidities included congenital heart disease (51%) and duodenal atresia (5%).
- Neonatal unit admission was frequent (79%), with high rates of follow-up testing and referrals. Mortality was 9%, and first-year readmission was 42%.
Conclusions:
- The incidence of Trisomy 21 at CUMH is higher than the European average.
- Infants with Trisomy 21 face significant health challenges requiring extensive neonatal care and ongoing management.
- Improved antenatal diagnosis rates and comprehensive multidisciplinary follow-up are essential for this population.
Abstract:
Incidence of Trisomy 21 in Ireland, 1:546 live births, is the highest in Europe. This project aimed to define the incidence of T21 amongst liveborn infants at Cork University Maternity Hospital (CUMH), and to describe neonatal outcomes and progress in their first year. Infants were identified from Social Work department records. A retrospective review of the neonatal inpatient database, outpatient letters and medical charts was performed. Forty three infants with T21 were born in CUMH in 2010 and 2011. Incidence of T21 was 1:411. Antenatal diagnosis was uncommon at 14% (6). 34 (79%) were admitted to the neonatal unit. Co-morbidities included congenital heart disease 22 (51%) and duodenal atresia 2 (5%). Thirty four were followed-up in CUMH outpatient department. Of these, 34 (100%) had thyroid function testing, 29 (85%) ophthalmology and audiology referral, and 7 (21%) were referred for hip review. Mortality rate was 9% (4). Readmission to hospital in the first year of life was 42% (18).
