宁夏2007—2010年新生儿先天性甲状腺功能减低症和苯丙酮尿症筛查情况分析

目的分析宁夏新生儿先天性甲状腺功能减低症(CH)和苯丙酮尿症(PKU)的筛查和治疗情况。方法 2007年8月至2010年12月宁夏新生儿疾病筛查中心对新生儿采用时间分辨荧光免疫法测定促甲状腺素浓度,采用荧光免疫法测定苯丙氨酸浓度。回顾性分析CH和PKU检出率和治疗情况。结果 2007—2010年共筛查新生儿70491名,每年筛查的新生儿数分别为2154、9496、10841、47680名。共确诊CH17例,治疗13例,患病率0.24‰,治疗率76.5%;确诊PKU23例,治疗20例,患病率0.33‰,治疗率87.0%。结论宁夏新生儿疾病筛查工作近几年发展较快,筛查人数逐年增加,新生儿疾病筛查可使患儿得到早期诊治。     

连云港地区新生儿先天性甲状腺功能减低症及苯丙酮尿症筛查分析

目的 探讨连云港地区新生儿先天性甲状腺功能减退症（CH）及苯丙酮尿症（PKU）发病及分布特征。方法 采集生后72h新生儿155091例足跟血于干血滤纸片上。PKU采用盖氏细菌抑制法测血苯丙氨酸（Phe）水平、CH采用酶联免疫吸附试验（ELISA）或时间分辨荧光免疫法（TRFIA）测促甲状腺素（TSH）作为筛查指标。结果 确诊CH患儿64例，发病率4．126／万（1：2423）：经甲状腺核素显像41例，其中甲状腺异常23例（56％）；64例分布在全市的4县3个城区的45个乡镇（街道），男女性别和城乡发病率均无差异（P均〉0．05），发现1对双胞胎CH患儿；确诊苯丙酮尿症患儿15例，发病率为0．967／万（1：10339）：以上患儿父母未见近亲结婚和显性遗传家族史，母孕期正常，经干预治疗，患儿身体和智力发育与同龄儿比较无显著差异。结论 CH、PKU在连云港地区呈散发性分布，进行新生儿筛查是发现CH、PKU的唯一有效手段。     

携手努力,开展新生儿苯丙酮尿症筛查

上海市儿科医学研究所自1981年在国内开展新生儿筛查以来,至1988年在上海地区共筛查了新生儿苯丙酮尿症(PKU)358,767名,查出PKU患儿21例,其发病率为1/17,084。与国外欧美各国PKU发病率相比基本相似,但明显高于日本(1/110,000)。此外还查出轻型PKU(高苯丙氨酸血症)患儿6例。PKU的     

广州市18年新生儿先天性甲低苯丙酮尿症和葡萄糖-6-磷酸脱氢酶缺乏症筛查

目的 探讨广州市新生儿先天性甲低、苯丙酮尿症和葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症筛查方法及其对遗传代谢缺陷病的控制作用.方法 收集广州市新生儿出生3 d时的足跟血滤纸干血斑标本,检测促甲状腺素(TSH)筛查先天性甲状腺功能减低症(CH);检测苯丙氨酸(Phe)检出持续性高苯丙氨酸血症(PHPA),筛查苯丙酮尿症(PKU)和四氢生物蝶呤缺乏症(BH4D);检测红细胞G6PD活性筛查G6PD缺乏症.凡筛查阳性者按疾病诊疗常规进行确诊和治疗,将检出的CH和PHPA作为筛查干预组.将未经过新生儿筛查出现症状才就诊、临床诊断CH和PKU的患儿做为对照组.结果 1989年4月至2007年6月共筛查新生儿945 372名,检出CH 331例,PHPA 29例,G6PD缺乏症39 700例.结果 显示CH发病率为1∶2 856, PHPA为1∶32 599,G6PD缺乏症达1∶23.81.总发病率为4.24%.CH和PHPA共360例,治疗随访357例,治疗率99.2%.PHPA全部免费治疗.平均开始治疗日龄20 d,4～6岁时IQ或0～3岁DQ测定智能正常(IQ或DQ≥90)者320例(89.6%),低于正常(70≤IQ或DQ<90)者36例(10.1%), 智能残疾 (IQ或DQ<70)者1例(0.3%).对照组开始治疗年龄平均3岁,智能残疾26例,筛查组的智能发育明显好于对照组.结论 新生儿代谢病筛查是遗传代谢缺陷病的一种早期诊断和早期防治方法,对检出的CH、PKU进行早期有效治疗,可保持脑和智能发育正常,预防智能性残疾.     

贵州省2010—2015年新生儿主要遗传代谢病筛查结果分析

目的分析贵州省2010—2015年新生儿遗传代谢病筛查数据,了解主要疾病发病率及特点。方法收集贵州省2010—2015年各地区新生儿遗传代谢病筛查的结果,描述活产新生儿筛查率、可疑阳性儿召回率、各新生儿遗传代谢病筛查中心年检测量,并对先天性甲状腺功能低下(CH)和苯丙酮尿症(PKU)的发病率进行统计学分析。结果贵州省6年间有1 811 085名新生儿参加CH和PKU筛查,筛查率70.03%,可疑阳性儿召回率77.52%,均低于国家平均水平。贵阳市筛查率超出100.00%,PKU召回率高于CH,各新生儿遗传代谢病筛查中心年检测量间存在较大差异。CH发病率0.327‰(593/1 811 085),PKU发病率0.030‰(54/1 811 085),均低于国家平均水平。CH总体呈负增长,PKU相对稳定。结论贵州省CH和PKU发病存在地域差异,但均不是高发地区。应进一步扩大新生儿遗传代谢病筛查普及范围,提高可疑阳性儿召回率。     

新疆94951例新生儿疾病筛查及随访结果分析

<正>新生儿筛查起源于1960年,初期筛查苯丙酮尿症(phenylketonuria,PKU)之后扩展到一些其他疾病,在新生儿期临床症状未出现前,用实验手段检查出来,经早期治疗,避免患儿出现功能障碍及机体的不可逆损伤,从而减少残疾发生,降低儿童死亡率。我国20世纪80年代开始开展新生儿疾病筛查研究,先天性甲状腺功能低下症(congenital hypothymidism,CH)和PKU为目前主要筛查病种。本文回顾性分析1998年11月至     

2008-2012年陕西省新生儿疾病筛查中心筛查结果分析

目的 分析陕西省新生儿疾病筛查中心筛查结果,探讨当地苯丙酮尿症（PKU）及先天性甲状腺功能减低症（CH）的发病情况.方法 2008-2012年陕西省新生儿疾病筛查中心对新生儿采用荧光分析法检测滤纸干血斑中苯丙氨酸（Phe）浓度;采用时间分辨免疫荧光分析法（Tr-FIA）检测滤纸干血斑中促甲状腺激素（TSH）的浓度.回顾分析PKU及CH检出情况、发病率及治疗随访情况.结果 2008-2012年共筛查新生儿213 392名,每年筛查的新生儿数分别为34 656、47 670、47 485、45 443、38 138名.初筛阳性可疑PKU 1003例,CH 2179例;召回复查,5年间PKU复查率由79.0％上升至96.1％;CH由91.5％上升至99.4％.经筛查共确诊PKU 29例,发病率1∶7358;确诊CH 80例,发病率1∶2667.结论 通过新生儿疾病筛查可以做到早诊断、早治疗,避免因PKU、CH导致终生残疾,有利于提高出生人口质量.     

新疆维吾尔自治区四地州新生儿苯丙酮尿症筛查及确诊患者随访

目的 分析新疆维吾尔自治区四地州新生儿苯丙酮尿症(phenylketonuria,PKU)筛查覆盖率、召回率、发病率及确诊患者治疗随访情况。方法 回顾性分析2010年1月至2020年12月新疆维吾尔自治区乌鲁木齐市、昌吉回族自治州、吐鲁番地区、塔城地区的妇幼保健机构出生的新生儿,生后2～7 d足底采血,采用荧光法进行血苯丙氨酸(phenylalanine,Phe)浓度检测,筛查阳性者召回进一步检测确诊或排除PKU,确诊患儿均接受低Phe饮食治疗并随访。统计学方法采用χ²检验、趋势性χ²检验、单因素方差分析、LSD检验、H检验和Tamhane’s T2法。结果 2010年1月至2020年12月新生儿PKU的总体筛查覆盖率为86.14%。其中2017年出生人数65 678例,筛查人数62 938例,达到近11年来的高峰,筛查覆盖率呈逐年增高趋势(χ²=77 064.800,P<0.001)。确诊轻度高苯丙氨酸血症(hyperphenylalaninemia,HPA)155例;PKU 96例,PKU发病率为1/5 123...     

先天性甲状腺功能减低症筛查及治疗效果分析

目的了解先天性甲状腺功能减低症(CH)的筛查及替代治疗结果。方法回顾性分析2003年7月—2015年7月采用时间分辨荧光免疫法测定新生儿促甲状腺激素(TSH)水平筛查CH的资料;阳性召回的可疑患儿采用化学免疫发光法测定血清甲状腺功能,确诊者予左旋甲状腺素钠替代治疗并定期随访。结果 12年来共筛查新生儿1 228 289例,确诊950例,CH发病率1/1 293。接受正规治疗、随访满2年及以上的635例CH患儿中,488例(76.85%)为永久性CH,147例(23.15%)为暂时性CH。CH患儿随访至1岁和3岁时,体格生长和发育商(DQ)无异常。结论新生儿筛查可早期诊断CH,早期实施替代治疗。     

苯丙酮尿症48例

目的探讨泰安地区新生儿苯丙酮尿症(PKU)的发病率及致病基因携带率。方法应用Guthrie细菌抑制法,对苯丙氨酸(phe)水平>20 mg/L的患儿进一步复查,作四氢生物蝶呤(BH4)负荷实验、尿蝶呤分析、二氢蝶啶还原酶活性检测,以此鉴别四氢生物蝶呤缺乏症(BH4D)。免费给予低phe饮食和药物治疗,定期检测血phe水平及体格和智能发育。结果共筛查355 615例新生儿,确诊PKU 48例,PKU在泰安地区发病率为1/7408,致病基因携带者为1/48。PKU患儿体能和智能发育各项指标与正常儿童均无显著性差异(P均>0.05)。结论新生儿PKU的筛查及早期治疗,是减少出生缺陷、提高人口素质的重要措施之一。     

Neonatal screening for congenital hypothyroidism and phenylketonuria in China

Background  Neonatal screening is helpful to prevent serious disabitily and sufferings caused by congenital or inherited disease. This study was to review the status of neonatal screening for congenital hypothyroidism (CH) and phenylketonuria (PKU) in China. Methods  We analyzed data of neonatal screening for CH and PKU in the past two decades which were obtained from the national network of neonatal screening centers collected by the National Center for Clinical Laboratory. Results  Of 18.8 million newborns screened from 1985 to 2007, 9198 were identified with CH, giving a prevalence of 1/2047. In 19.0 million newborns screened in the same period, 1638 had PKU, with a prevalence of 1/11 572. An increasing number of neonates have been subjected to neonatal screening in China annually during this period. Data from Zhejiang Neonatal Screening Center showed that the recall rate of neonates suspected with CH and PKU was 95.52% in 2007. Confirmatory tests were performed and treatments were initiated in most of the neonates with CH and PKU within a month after birth. Conclusions  More governmental support at different levels is needed to make neonatal screening more efficient. The screening should be improved with a satisfactory control system including shorter time of report and a higher recall rate.     

北京市20年新生儿疾病筛查回顾性分析

目的分析北京市1989—2009年新生儿先天性甲状腺功能减退症（CH）和苯丙酮尿症（PKU）的筛查结果,为进一步提高新生儿疾病筛查的管理水平及干预措施提供依据。方法 采集出生72h后、正常哺乳的新生儿足跟血于特定滤纸上,进行CH及PKU筛查。PKU筛查检测指标为血苯丙氨酸（Phe）浓度,分别采用细菌抑制法（1989—2003年）和荧光法（2004—2009年）;CH筛查检测指标为血促甲状腺激素（TSH）水平,分别采用放免法（1989—2003年）及时间分辨荧光免疫分析法（DELFIA）（2003—2009年）。结果 1989—2009年,北京市共筛查新生儿1745998名,筛查率由1989年的14.01%提高到2009年98.16%,可疑患儿复诊率由1991年的65.85%提高到2009年的92.18%,共确诊CH482例,发病率1：3622;PKU192例,发病率1：9094。结论 新生儿疾病筛查是包括管理、筛查、随访、诊治、评估、教育等多个环节的系统服务工程,各部门的协调配合是提高筛查管理质量的有效措施,完善的新生儿疾病筛查工作可有效降低残疾儿的发生。     

Central Congenital Hypothyroidism Detected by Neonatal Screening in Sapporo, Japan (2000–2004): It’s Prevalence and Clinical Characteristics

In Sapporo, Japan, a neonatal screening program for congenital hypothyroidism (CH) has employed measurement of free thyroxine (T4) and TSH in the same filter-paper blood spot. This system has enabled us to identify primary CH and central CH during the neonatal period. The aim of this study was to clarify the prevalence and clinical characteristics of central CH. For this purpose, the screening program requested serum from infants with free T4 concentrations below the cut off value regardless of the TSH levels. Between January 2000 and December 2004, 83,232 newborns were screened and six central CH patients were detected as a result of follow-up of low free T4 and non-elevated TSH screening (1:13,872). This frequency is higher than in other studies. Four patients showed multiple pituitary hormone deficiency with pituitary malformations on magnetic resonance imaging. One patient was diagnosed as having Prader-Willie syndrome. The remaining patient was considered to have isolated central CH. Our study demonstrated that the frequency of central CH is 1:13,872. Free T4 measurement would also be advantageous in early recognition of multiple pituitary hormone deficiency.     

Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism

OBJECTIVE: To evaluate the costs and benefits of neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CH). Neonatal screening for PKU and CH is common throughout the developed world. It represents a model of preventive care in that the screening procedure is simple and intellectual disability is otherwise irreversible. Changes in treatment and care, and in particular the advent of maternal PKU, require regular evaluation of a programme that also impacts on a large healthy population. METHOD: Costs of screening were based on the programme provided within Western Australia. Costs averted were derived using patterns of care currently adopted in Western Australia and applied according to historical patterns of intellectual disability for each condition. RESULTS: A net saving of dollar A2.9 million is attributable to the programme annually. The economic benefits derive from the prevention of intellectual disability which otherwise incurs costs throughout the life of the affected individual. Maternal PKU represented a minor proportion of overall costs. Sensitivity analysis showed that the cost savings were robust, given changes in the levels of intellectual disability, but varied according to the discount rate. The result of a net saving was evident under all assumptions. CONCLUSION: Neonatal screening for PKU and CH is a cost saving use of resources and the emergence of maternal PKU has not had a significant effect on the economic outcomes.     

The national neonatal screening programme for congenital toxoplasmosis in Denmark: results from the initial four years, 1999-2002.

AIMS: To describe the outcome of four years' nationwide neonatal screening for congenital toxoplasmosis in liveborn newborns. METHODS: Congenital toxoplasmosis was diagnosed if specific Toxoplasma gondii IgM antibodies were detected in eluate from the PKU Guthrie filter paper card from a child. Infants diagnosed with congenital toxoplasmosis were examined for intracranial and retinal lesions and treated for three months with sulphadiazine, pyrimethamine, and folinic acid continuously. RESULTS: Eluates from PKU-cards from 262 912 newborns were analysed. The birth prevalence of congenital toxoplasma infection was 2.1 per 10 000 liveborns. Congenital toxoplasmosis was suspected in 96 infants and confirmed in 55. Forty seven children were examined for intracranial and retinal lesions soon after birth; 12 had clinical signs at this first examination. Of these, 5 had intracranial calcifications, 2 had retinochoroidal lesions, 4 had intracranial calcifications and retinochoroidal lesions, and 1 had hydrocephalus, intracranial calcifications, and retinochoroidal lesions. Ninety four eyes were examined soon after birth; there were central retinochoroidal lesions in 9. Two children had macular lesion of both eyes, five had macular lesions of one eye. At 1 year of age, 10/68 eyes had central lesions, and at 3 years of age, 5/32 had central lesions. Thus new retinochoroidal lesions developed in three eyes in the observation period. CONCLUSIONS: Neonatal screening is feasible for diagnosing children with congenital toxoplasmosis at birth in low endemic areas. Retinochoroiditis with macular lesion was diagnosed in 9.6% of the eyes at birth and in 15.6% of the eyes examined at 3 years of age.     

上海地区遗传代谢病的新生儿筛查(英文)

Objectives Inborn errors of metabolism (IEM) has a diverse spectrum and different incidence in different countries, the early diagnosis at presymptomatic stage is imperative to benefic patient from sequelae. Phenylke-tonuria (PKU) / hyperphenylalaninemia (HPA) is the most common metabolism disorder in Shanghai as well as in other regions. The study is to further clarify the incidence of inborn errors of metabolism among newborn in Shanghai. Methods The dried blood spot specimens were collected from near 90 ...     

Screening programme for phenylketonuria in the Gaza Strip: evaluation and recommendations

Phenylketonruia (PKU) is an inherited metabolic disorder that results in progressive mental retardation. PKU is a paradigm of a disease that can be identified by proper screening of newborns and medical follow-up in order to prevent serious complications. The present study was designed to evaluate the Palestinian national screening programme for PKU in the Gaza Strip. Data about the screening of PKU in the Gaza Strip were obtained from the records of the healthcare centers of the Palestinian Ministry of Health (MOH) during the year 2000. In addition, PKU patients and families were interviewed. The results showed that the prevalence of PKU in the Gaza Strip varied considerably between the different regions with an overall prevalence of 6.35/100,000, while the maximum prevalence of 28.3/100,000 occurred in the rural areas. Coverage of PKU testing in the Gaza Strip is limited to about 35.3 per cent of the total newborns, who are delivered and receive health care at the government clinics. Among those newborns delivered at the government clinics, the percentage of PKU screening is about 87.8 per cent. However, PKU testing is not carried out at UNRWA clinics where about two-thirds of newborn deliveries take place. On average, 61 per cent of PKU testing is made in the infant's second week, ranging between 11 and 17 days, and the remaining (39 per cent) are tested thereafter. Approximately 60 per cent of PKU patients had consanguine parents (first cousins), while 7.7 per cent had no consanguinity. Only 43.1 per cent of PKU patients were fed on the specialized low phenylalanine milk. An inverse correlation was reported between the use of low phenylalanine milk and age. A total of 35.4 per cent of the PKU patients were regularly monitored by blood tests each month, 47.7 per cent had not been tested for the previous year. It was concluded that the PKU screening programme has to be improved, the screening methods should be reviewed, and the screening coverage should include all the newborns in the Gaza Strip.     

Expanding screening for rare metabolic disease in the newborn: an analysis of costs, effect and ethical consequences for decision-making in Finland

Aim: Currently, the only metabolic disorder that newborns are screened for in Finland is congenital hypothyroidism. A proposal to start a pilot study on screening for other rare metabolic diseases using tandem mass spectrometry prompted a health technology assessment project on the effect and costs of expanded newborn screening programme options. Method: A modelling study using data from current published studies, healthcare registers and expert opinion. Results: The annual running cost of screening 56 000 newborns for the chosen five disorders (congenital adrenal hyperplasia, medium-chain acyl-CoA dehydrogenase deficiency [MCADD], long chain 3-hydroxyacyl-CoA dehydrogenase deficiency [LCHADD], phenylketonuria [PKU] and glutaric aciduria type 1 [GA 1]) was estimated to be €2.5 million or €45 per newborn when starting costs were included. The costs per quality-adjusted life year (QALY) gained are a maximum of €25 500. Prevention of severe handicap in one newborn would reduce the costs to a maximum of €18 000 per QALY gained.
Conclusions: Expanding the Finnish neonatal screening programme would require a new organization. The cost-effectiveness, resources, ethics and equity need to be considered when deciding in favour of or against starting a new screening programme.     

Control of congenital infection with Toxoplasma gondii by neonatal screening based on detection of specific immunoglobulin M antibodies eluted from phenylketonuria filter-paper blood-spot samples

Two ongoing neonatal screening programmes for congenital infection with Toxoplasma gondii are presented. The New England Newborn Screening Programme has included congenital toxoplasmosis since 1986. The test is based on detection of Toxoplasma-speci fi c immunoglobulin M (IgM) antibodies eluted from the phenylketonuria (PKU) card. The seroprevalence of Toxoplasma IgG antibodies is at present about 13% and the birth prevalence of congenital toxoplasmosis approximately 1 per 10000 liveborn children. The Danish national neonatal screening programme was expanded to include congenital toxoplasmosis from 1 January 1999. The test is also based on detection of Toxoplasma-speci fi c IgM antibodies eluted from PKU cards. The seroprevalence of Toxoplasma IgG antibodies in pregnant women is around 25% and the birth prevalence about 1 per 3000 liveborn children. The birth prevalence of congenital Toxoplasma infection is within the range of other congenital disorders included in different screening programmes. Neonatal screening is feasible in areas with a low risk of congenital infection where prenatal screening will not be applicable.     

云南省部分地区新生儿先天性甲状腺功能减低症筛查结果分析

目的 总结并分析云南省部分州市先天性甲状腺功能减低症(CH)的筛查结果.方法 对2012 年7 月至2014 年4 月在云南省昭通市、曲靖市、丽江市和迪庆藏族自治州四地出生的活产婴儿236 218 例进行CH 筛查,其中男121 463 例,女114 755 例.初筛足跟血促甲状腺激素(TSH)≥ 8 μIU/L 者原血片重新复查,复查后仍为阳性者召回进一步测定静脉血TSH 和游离甲状腺素(FT4)以明确诊断.结果 236 218 名新生儿中,血片合格率为96.67%,不合格血片补采率为81.75%,初筛阳性召回率为73.02%.确诊CH 66 例,其中男性36 例,女性30 例(P>0.05).CH 发病率为1: 3 579,显著低于全国平均发病水平(1/2 034,P<0.01).患儿出生胎龄多为37~42 周,>42 周者只占3%;大部分患儿出生体重在正常范围;出生身长<50 cm 者占32%.结论 云南地区CH 发病率低于全国平均水平;CH 患儿临床特征无特异性;云南地区新生儿疾病筛查工作质量还需要进一步提高.