Vik T, Borthne K, Johansen O J
Institutt for samfunnsmedisinske fag, Det medisinske fakultet Norges teknisk-naturvitenskapelige universitet, Trondheim.
Tidsskr Nor Laegeforen. 1999 Oct 20;119(25):3743-6.
Ultrasound examination offered to nearly all pregnant women in Norway may lead to the identification of fetuses with Down's syndrome. This may lead to termination of pregnancies and to a reduction in the prevalence of live-borns with Down's syndrome. In a retrospective study of hospital records we have examined the prevalence of Down's syndrome, associated malformations and diseases during the last 20 years. 68 children and adolescents with Down's syndrome were identified. 43 were born 1988-97 (1.16 per 1,000 births) and 25 1978-87 (0.8 per 1,000 births; p = 0.13). Congenital heart defects were diagnosed in 33 children (49%). Five children (7.4%) had died by the end of 1997, four with a cardiovascular defect. Four children had moved out of the region. Among 59 persons alive at the time of study, 11 (19%) were treated for hypothyroidism, 26 (44%) had been hospitalised because of infections, and 14 (20%) suffered from problems with sleep obstruction. 23 (39%) had impairments in hearing and 30 (51%) in vision. Ten children (18%) had a weight-for-height above the 97.5 percentile of standard growth charts for Norwegian children. Serum concentration of zink was below reference values in 15 children. We conclude that the prevalence of livebirths with Down's syndrome was not reduced in 1988-97 compared to 1978-87. Children with Down's syndrome have a wide range of somatic disorders and need close and systematic medical follow-up.
挪威几乎所有孕妇都接受超声检查,这可能会发现患有唐氏综合征的胎儿。这可能导致终止妊娠,并降低唐氏综合征活产儿的患病率。在一项对医院记录的回顾性研究中,我们调查了过去20年中唐氏综合征、相关畸形和疾病的患病率。共识别出68名患有唐氏综合征的儿童和青少年。43名出生于1988 - 1997年(每1000例出生中有1.16例),25名出生于1978 - 1987年(每1000例出生中有0.8例;p = 0.13)。33名儿童(49%)被诊断出患有先天性心脏缺陷。到1997年底,5名儿童(7.4%)死亡,其中4名患有心血管缺陷。4名儿童已搬离该地区。在研究时仍在世的59人中,11人(19%)接受了甲状腺功能减退症治疗,26人(44%)因感染住院,14人(20%)患有睡眠呼吸障碍问题。23人(39%)听力受损,30人(51%)视力受损。10名儿童(18%)的身高体重高于挪威儿童标准生长图表的第97.5百分位。15名儿童的血清锌浓度低于参考值。我们得出结论,与1978 - 1987年相比,1988 - 1997年唐氏综合征活产儿的患病率没有降低。患有唐氏综合征的儿童有多种躯体疾病,需要密切和系统的医学随访。