Department of Microbiological Surveillance and Research, Statens Serum Institut, Copenhagen, Denmark.
J Inherit Metab Dis. 2010 Oct;33(Suppl 2):S241-7. doi: 10.1007/s10545-010-9124-4. Epub 2010 Jun 29.
This paper reports on the national neonatal screening programme for congenital toxoplasmosis (CT) in Denmark conducted from 1999 to 2007, including background, basis for initiation of screening, methods, results, and finally reasons for the discontinuation of the screening.
A nationwide screening was conducted at Statens Serum Institut, including >98% newborns, and using filter paper eluates (Guthrie card, PKU card) obtained from newborns 5-10 days old. These were analysed for Toxoplasma gondii-specific antibodies (IgM), and if positive, then IgM (ISAGA). Confirmatory serology was performed on children and their mothers (IgM, IgG, IgA, dye test) where infection was suspected, and children with suspected or confirmed CT initiated a 3-month treatment regimen with pyrimethamine, sulfadiazine and folinic acid supplements. Selective cohorts were followed with regard to developmental and clinical outcome.
A total of 100 children were diagnosed with CT in the screening period, and only 2 cases were detected outside of the screening programme. CT prevalence was 1.6 per 10,000 live-born infants. Follow-up studies showed new retinochoroidal lesions in affected children despite treatment.
Screening was terminated August 2007, after it became apparent that no benefit of treatment could be shown. CT was evaluated using a Danish adaptation of the Uniform Screening Panel (ACMG), showing CT as an unlikely candidate for screening today. Whereas results might be comparable with other low-endemic countries with similar strains of T. gondii, neonatal screening and treatment might offer different results in regions with either high prevalence or different strains of T. gondii.
本文报告了丹麦 1999 年至 2007 年开展的全国先天性弓形虫病(CT)新生儿筛查项目,包括背景、筛查启动依据、方法、结果,最后是终止筛查的原因。
在 Statens Serum Institut 开展了一项全国性筛查,包括 98%以上的新生儿,使用滤纸洗脱液(Guthrie 卡、PKU 卡),从 5-10 天大的新生儿中采集。这些样本用于检测弓形虫特异性抗体(IgM),如果阳性,则进一步检测 IgM(ISAGA)。对怀疑有感染的儿童及其母亲进行确证性血清学检查(IgM、IgG、IgA、染料试验),对疑似或确诊的 CT 患儿开始采用乙嘧啶、磺胺嘧啶和亚叶酸治疗方案,为期 3 个月。对部分患儿进行了选择性队列研究,以观察其发育和临床结局。
在筛查期间共诊断出 100 例 CT 患儿,仅有 2 例在筛查计划之外被发现。CT 患病率为每 10,000 例活产婴儿中有 1.6 例。随访研究显示,尽管接受了治疗,但受影响的儿童仍出现新的视网膜脉络膜病变。
2007 年 8 月终止了筛查,因为已经表明无法显示治疗的益处。采用丹麦版的统一筛查小组(ACMG)评估 CT,表明 CT 目前不太可能成为筛查的候选对象。虽然结果可能与其他弓形虫株相似的低流行地区相似,但在流行率高或存在不同弓形虫株的地区,新生儿筛查和治疗可能会产生不同的结果。