Trisomy 21--incidence and outcomes in the first year, in Ireland today.

摘要

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).