Ni She R, Filan P M
Ir Med J. 2014 Sep;107(8):248-9.
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).
21三体综合征在爱尔兰的发病率为1:546活产儿，是欧洲最高的。本项目旨在确定科克大学妇产医院（CUMH）活产婴儿中21三体综合征的发病率，并描述其新生儿结局及出生后第一年的发育情况。婴儿信息从社会工作部门记录中获取。对新生儿住院数据库、门诊信件及病历进行了回顾性分析。2010年和2011年，CUMH有43例21三体综合征婴儿出生。21三体综合征发病率为1:411。产前诊断不常见，占14%（6例）。34例（79%）入住新生儿病房。合并症包括先天性心脏病22例（51%）和十二指肠闭锁2例（5%）。34例在CUMH门诊接受随访。其中，34例（100%）进行了甲状腺功能检测，29例（85%）转诊至眼科和听力科，7例（21%）转诊至髋关节检查。死亡率为9%（4例）。出生后第一年再次入院率为42%（18例）。
