新生儿先天性肾上腺皮质增生症筛查分析

目的探讨新生儿先天性肾上腺皮质增生症（CAH）筛查情况,为CAH的早期筛查、确诊和治疗提供依据。方法选择柳州市新生儿疾病筛查中心2010年9月至2012年12月进行CAH筛查的新生儿,采用时间分辨荧光免疫分析方法检测滤纸片17．羟孕酮（17-OHP）浓度,通过数据分析确立实验室筛查的切值。结果研究期间共筛查46592例新生儿,初筛阳性304例,确诊1例CAH。同一胎龄组中17-OHP浓度随体重增加而降低,同一体重组中早产儿17-OHP浓度大于足月儿,差异均有统计学意义（P〈0．05）。3327例早产儿97．5^th和99^th分位数值分别为40．1nmol／L和57．3nmoL／L,体重〈2500g早产儿切值定为40．0nmo]／L,体重≥2500g定为30．0nmol／L;足月儿中,体重〈2500g者97．5^th和99^th分位数值分别为20．9nmol／L和27．5nmol／L,体重2500～4000g 97．5^th和99^th分位数值分别为16．8nmol／L和21．1nmol／L,但初筛17-OHP浓度分布显示99．8％的新生儿筛查结果分布在O．0～30．0nmol／L,所以,足月儿无论体重大小17-OHP实验室筛查切值均定为30．0nmoL／L。结论确立17．OHP筛查切值,规范实验室管理,具有临床意义。     

新生儿重症监护病房先天性遗传代谢病筛查及结局随访

目的探讨将新生儿重症监护病房(NICU)收治的具有高危临床表现的新生儿作为先天性遗传代谢病(IMD)扩大筛查目标人群的可行性。方法选择本院NICU 2010年1~12月收治的高危新生儿为研究对象,应用串联质谱技术对患儿进行35种IMD筛查,分析筛查阳性率,对阳性病例进行确诊试验,并在生后2年内进行随访。统计阳性病例的确诊率(阳性预测值)和假阳性率。同时,对IMD在新生儿早期出现的临床表现进行分析。结果筛查的560例高危新生儿中阳性病例14例,阳性率2.5%,其中12例随访到生后2岁,确诊5例,确诊率(阳性预测值)41.7%,假阳性率58.3%,IMD在新生儿早期最常见的临床表现为高胆红素血症、早产/低出生体重、低血糖、体重下降明显或不增、呼吸窘迫等。结论在目前我国医疗资源尚不均衡的情况下,建议将出生后早期存在高危临床表现的新生儿作为IMD扩大筛查的目标人群,以提高患儿的检出率。     

串联质谱技术对新生儿遗传代谢病的筛查及随访研究

目的 初步了解串联质谱筛查新生儿遗传代谢病的发生率及确诊病例的随访情况.方法 采用串联质谱方法,对129 415例新生儿进行26种氨基酸、有机酸及脂肪酸代谢性疾病筛查,对确诊病例进行流行病学特点、预后及随访情况进行分析.结果 确诊新生儿遗传代谢病23例,包括氨基酸代谢异常13例、有机酸代谢异常6例及脂肪酸代谢异常4例,发病率为1∶5626.筛查的阳性预测值为2.10％,特异性为99.72％,敏感性为100％.所有确诊病例进行随访,仅有6例出现运动、智力发育落后及代谢紊乱.结论 串联质谱方法能够早期筛查、诊断遗传代谢病,及早干预预后较好;串联质谱筛查方法具有较高的特异性及敏感性,但阳性预测值低,需要进一步提高筛查效率.     

四川地区早产儿干血斑中氨基酸切值的探讨

目的:探讨四川地区早产儿干血斑中氨基酸含量的切值。方法:回顾性分析2018年1月至2019年12月在四川地区采用串联质谱技术进行遗传代谢病(IMD)筛查的新生儿临床数据。根据胎龄分为2组：早产儿组2 264例(男1 312例,女952例),足月儿组53 275例(男28 269例,女25 006例) ,干血斑中氨基酸切...     

新生儿串联质谱遗传代谢病筛查结果判读

遗传代谢病是由于基因缺陷导致体内某些物质代谢障碍,病种繁多,可累及多系统,临床表现无特异性。如未早期诊断和干预,总体预后差。串联质谱可检测血中的氨基酸和肉碱,是诊断氨基酸、有机酸、脂肪酸代谢病的有效手段,近年来被越来越广泛地应用于新生儿疾病筛查,大大有利于遗传代谢病的早期诊断。文章对新生儿串联质谱遗传代谢病筛查结果的判读进行介绍。     

早产儿 低体重儿及患病儿遗传代谢病筛查共识

正新生儿疾病筛查(newborn screening,NBS)是在新生儿早期(生后数天)对遗传代谢缺陷、先天性内分泌异常及某些严重危害身体健康的疾病进行筛查的总称。其目的是在新生儿期筛查并明确诊断以上疾病,使这些患儿能够得到及时治疗,防止或减轻其体格和智力发育障碍,降低死亡率。早产儿(胎龄37周)、低体重儿(出生时体重2500 g)和出生后即患病新生儿,由于其自身、出生前后环境及护理治疗的复杂性,对遗传代谢     

新生儿遗传代谢病筛查阳性及确诊患者的管理

新生儿遗传代谢病筛查是出生缺陷防控的第三级防御措施,随着我国各地筛查率不断提高,如何提高筛查阳性召回率及保证确诊患儿规范管理的问题突显。文章将针对筛查阳性及确诊病例管理中可能存在的诸多难点提出建议对策,旨在进一步提高我国新生儿遗传代谢病规范筛诊治质量,真正体现新生儿疾病筛查与诊治并重。     

中国新生儿基因筛查专家共识：高通量测序在单基因病筛查中的应用

传统以检测特定生化标志物为技术手段的新生儿筛查(newborn screening, NBS)作为社会健康第三级防控体系, 在出生缺陷防控领域发挥了很好的作用, 但筛查病种较少, 部分病种存在一定程度的假阳性和假阴性。而遗传检测技术的快速发展以及在遗传性疾病诊断中经验的积累, 为遗传病NBS提供了新的技术选择。将遗传检测技术引入NBS已成为大势所趋。国内外学者在新生儿基因筛查领域进行了积极的尝试并积累了一些经验和教训。为尽可能最大程度保护基因筛查新生儿及其家庭权益, 在总结国内外前期探索性基因筛查经验的基础上, 业内专家共同探讨拟定基于高通量测序技术(next generation sequencing, NGS)的中国单基因病NBS(简称新生儿基因筛查)共识, 以规范新生儿基因筛查体系, 指导NGS在新生儿基因筛查领域的应用。     

新生儿遗传代谢病早期识别

遗传性代谢病(inherited metabolic disorders,IMD)即先天性代谢缺陷(Inbom errors of metabo-lism,IEM),许多种类都是在人生第一阶段即新生儿期内起病.IMD种类繁多,共同的发病率约为1/1500人,在一个新生儿医生的职业生涯中可能不会遇到某些极为罕见的:IMD,但几乎所有的新生儿医生在执业过程中都常会遇到这些疾病.IMD涉及机体各系统组织器官,往往以各系统危重病症表现起病,在新生儿疾病病因学中居重要地位.部分种类的IMD已有特效治疗方法,早期快速诊断前提下的及早干预是降低病死率及远期神经系统后遗症发生率的关键所在;即使是一些目前尚无特效治疗方法的病种,明确诊断对于母亲今后怀孕的产前诊断也很必要.     

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。     

False negative results on newborn screening for cystic fibrosis

Over a 5 year period in Newcastle, 18 new cases of cystic fibrosis (CF) were diagnosed in children who had been screened in the newborn period. In six of these children, the screening programme failed. Four of these children had a normal screen and an additional two had elevated immunoreactive trypsin (IRT), but there were problems with the notification procedure. Three of the children missed by the screening process had a significantly delayed diagnosis; in all three cases the diagnosis of CF was suspected clinically, but a sweat test was delayed because of false reassurance from the fact that the child had been screened for CF. In a fourth case, multiple elevated sweat electrolyte levels were obtained, but the diagnosis of CF was considered to be in doubt because of the normal IRT assay. A sweat test should be performed on any child in whom there is clinical suspicion of CF.     

Community-wide screening for cystic fibrosis carriers could replace newborn screening for the diagnosis of cystic fibrosis

Most babies with cystic fibrosis (CF) are born to parents who did not know they were carriers until their baby was diagnosed with CF, usually by newborn screening. It is only after the birth of their first child with CF that couples are offered genetic counselling and reproductive choices. Most use this information for prenatal testing of subsequent pregnancies. With the high uptake of first trimester screening for Down syndrome (80% in Victoria) most couples have had screening during the CF affected pregnancy. Yet screening for CF carrier status is available, costs are similar to that for Down syndrome screening and CF carrier screening only ever needs to be done once. Waiting for couples to have a baby with CF before they are identified as carriers denies them choice. A national policy on CF carrier screening in Australia, and determination to equitably fund such a programme, is required.     

Congenital hypothyroidism with delayed rise in serum TSH missed on newborn screening

We report on a female patient with congenital hypothyroidism (CH) missed on a newborn screening test. She is now 10 years old with retarded development. The patient was born premature at 34 weeks of gestation with birth-weight of 1515 g, and was judged to be normal in the screening programme of Niigata Prefecture. However, she gradually suffered from poor weight gain and retarded development with stridor at breathing. Serum thyroid stimulating hormone (TSH) levels were rechecked and showed high values with normal T3 and T4 levels. She was referred to our hospital at the age of 13 months. She was diagnosed as having CH (ectopic thyroid) with a delayed rise in blood TSH concentration, probably due to the prematurity of the hypothalamic-pituitary-thyroid axis. l -thyroxine therapy brought a decline in TSH levels with partial improvement of her symptoms. Regardless of the result of newborn screening, infants with elevated serum TSH levels should be carefully examined for possible CH, even when T3, T4 and free T4 values are in the normal range.     

Psychosocial issues in newborn screening for cystic fibrosis

Newborn screening for cystic fibrosis remains controversial because there is still little agreement that prophylactic interventions provide substantial long-term benefits. In such situations, where there are some medical benefits and the costs are not prohibitive, it is important to consider the psychosocial implications of screening. This paper reviews the evidence on the psychosocial issues raised by newborn screening for cystic fibrosis, in particular the issues of parental attitudes to screening, the evidence from families with an affected infant, the evidence from families with a carrier infant and the lessons for service delivery.     

健康教育对新生儿听力筛查实施的影响

目的 评估健康教育在实施新生儿听力筛查中的重要性.方法 调查1 216例接受健康教育及与896例未接受健康教育的产妇及其新生儿,比较两组家长对筛查的认知接受度和新生儿听力筛查率.结果 经健康教育后,新生儿听力的初筛率、复筛率提高,差异有统计学意义(P均＜ 0.01);家长对新生儿听力筛查目的 、必要性、结果的认可,以及对筛查结果和复查随访的接受度均显著提高,差异有统计学意义(P ＜ 0.01).结论 健康教育有利于提高家长对新生儿听力筛查的认知度,有助于新生儿听力筛查工作的顺利开展.     

未通过听力初筛新生儿家长知信行状况及相关因素分析

目的了解家长对新生儿听力筛查的知晓度、认可度、心理状态以及依从性,进一步分析其影响因素。方法 2010年9月至2011年6月,采用问卷调查的形式,在北京妇产医院(三级医院)及海淀区妇幼保健院(二级医院)对未通过新生儿听力筛查的家长进行相关问卷的调查。结果共发放问卷680份,全部收回。有效问卷653份,有效率(96%)。数据分析显示,384例(58.8%)家长表示在入院宣教时了解到新生儿听力筛查,仅90例(13.7%)家长表示在产前宣教时即了解到。647例(99.1%)家长认为筛查有必要,但仅479例(73.4%)家长认可普筛中使用诱发型耳声发射(OAE)和自动听觉脑干诱发电位(AABR)联合筛查。517例(79.2%)家长对初筛结果未通过表示担心。对于降低假阳性转诊的三阶段筛查模式,464例(71.0%)家长表示愿意接受。经多因素Logistic回归分析显示,母亲学历和分娩医院级别越高者,家长的担心情绪越低(P<0.05);母亲学历高者,更容易接受三阶段筛查模式(P<0.05)。结论大部分家长对新生儿听力筛查持认可态度,但对其认知程度和依从性有待提高。母亲学历及分娩医院级别越高,家长对初筛未通过的担心情绪越低。加强宣教力度才能更好的推进听力筛查工作的进一步发展。     

Fifty years of newborn screening

Newborn screening has evolved fast following recent advances in diagnosis and treatment of disease, particularly the development of multiplex testing and applications of molecular testing. Formal evidence of benefit from newborn screening has been largely lacking, due to the rarity of individual disorders. There are wide international differences in the choice of disorders screened, and ethical issues in both screening and not screening are apparent. More evidence is needed about benefit and harm of screening for specific disorders and renewed discussion about the basic aims of newborn screening must be undertaken.