西安市新生儿促甲状腺激素水平4年调查结果分析

目的：通过检测新生儿促甲状腺激素（TSH）水平，诊断先天性甲状腺功能低下症，评价西安市新生儿碘营养状况，方法：采用滤纸片（全血（TSH）酶联免疫测定方法。结果：4年共测定新生儿脐带血4504份，TSH＞5mU/L者，1997年为35．5％，1998年为24．6％，1999年为19．6％，2000年为19．0％。＞30mU/L的有7例，经复查确诊1例为先天性甲状腺功能低下症，甲低检出率为0．22‰。结论：西安市新生儿碘营养状况有明显改善，但仍存在碘营养不足，建议加强对孕妇及婴幼儿等特需人群的补碘工作。     

淄博市新生儿先天性甲状腺减低症筛查分析

目的分析和总结新生儿先天性甲状腺功能低下症（CH）筛查状况。方法淄博市2009—2010年活产的新生儿出生后72h足跟采血,滴在特殊的滤纸（美国S＆S 903滤纸）片上,用时间分辨荧光免疫分析法（TRFIA）测定促甲状腺素（TSH）浓度。对TSH超过切割值者召回复查,取静脉血采用直接化学发光免疫分析法（CLIA）测定T3、T4、FT3、FT4及TSH浓度。结果共筛查新生儿85000例,疑似CH 552例,确诊CH 20例。CH发病率1/4250,甲状腺发育异常是先天性甲状腺功能低下症的首要病因。结论新生儿筛查是CH患儿早期诊断的有效方法,是开展CH早期治疗,防治智力低下残疾儿发生的有效手段。     

吉林省新生儿先天性甲状腺功能减低症筛查结果分析

目的分析吉林省新生儿先天性甲状腺功能减低症(CH)的筛查情况,探讨新生儿疾病筛查在出生缺陷干预中的重要作用。方法新生儿出生72 h后,并充分哺乳,采集足跟血滴于专用滤纸上,测定血片中促甲状腺激素(TSH)的浓度。确诊使用化学发光法检测患儿血清中的游离T3(FT3)、游离T4(FT4)以及TSH。结果 2007年4月～2012年12月,共筛查新生儿634 290例,筛查率为81.85%,筛查率呈逐年上升趋势。检出先天性甲状腺功能减低症患儿175例,发病率为1/3625。结论吉林省新生儿先天性甲状腺功能低下症的发病率与北方其他城市相近,低于全国平均水平。新生儿疾病筛查是防止智力低下,提高出生人口素质的一项重要措施。     

新生儿先天性甲状腺功能低下的筛查研究

目的了解新生儿先天性甲状腺功能低下状况,探讨新生儿先天性甲状腺功能低下筛查的应用价值。方法先天性甲状腺功能低下筛查指标为血促甲状腺素(TSH),实验方法用酶联免疫法(ELISA)进行筛查,确诊实验用电化学法。结果先天性甲状腺功能低下筛查4301例,筛查阳性11例,阳性率2.56‰,确诊3例,确诊发病率0.70‰,筛查阳性中有27.27%为确诊患者。结论先天性甲状腺功能低下筛查简便易行,检出率较高,应加强筛查力度,早发现早治疗,提高人口素质。     

对新生儿甲状腺功能低下症筛查的讨论

对新生儿甲状腺功能低下症筛查的讨论王振华，赵玉英自１９７１年建立新生儿甲状腺功能低下症筛查（简称甲低筛查）以来，包括中国在内的许多国家开展了这项工作，取得了十分明显的社会经济效益。并日益显示出筛查在评价碘缺乏病防治效果和人群危害程度的现实意义。我们自...     

沈阳市新生儿先天性甲状腺功能低下筛查再报

目的：开展新生儿先天性甲状腺功能低下（甲低）筛查及早诊治甲低患儿，并利用新生儿促甲状腺激素（TSH）值来评估当地人群的碘营养水平，方法：新生儿脐血血片TSH免疫放射测定。结果：筛查新生儿2743220人，诊治甲低患儿57人。TSH＜10mU/L的新生儿数稳定在80％－90％。结论：新生儿脐血血片TSH免放测定筛查先天性甲低，可评估碘缺乏病流行态势，除规范实验方法外，还须对切片值和百分比进一步研究。     

新生儿全血TSH检测的意义及其技术

新生儿滤纸血斑ＴＳＨ检测用于先天性甲状腺功能低下症筛查（简称新生儿甲低筛查）已在西方发达国家施行了２０余年，并成为重要的儿童保健内容之一。我国自８０年代初期开始陆续有部分城市或地区在一定范围内开展了新生儿甲低筛查工作。到８０年代后期，在国内外有关学者...     

浙江省嘉兴地区新生儿先天性甲状腺功能低下症筛查结果分析

先天性甲状腺功能低下（简称甲低）可导致新生儿智力发育障碍，对新生儿采用甲低筛查，测定足跟血中促甲状腺激素（TSH）水平。可对患儿做到早期发现、早期治疗。为此，在2003年7月至2006年3月．对出生的22139例新生儿进行了甲低筛查。结果报告如下。[第一段]     

新生儿疾病筛查CH、PKU检测技术的研究进展

新生儿疾病筛查是指对每个出生的宝宝,通过先进的实验室检测发现某些危害严重的先天性遗传代谢性疾病,从而早期诊断、早期治疗,避免宝宝因脑、肝、肾等损害导致智力、体力发育障碍甚至死亡[1]。新生儿疾病筛查是尽早发现先天性甲状腺功能低下（CH）和苯丙酮尿症（PKU）的有效途径,是预防和减少智残儿童、     

陕西省部分地区新生儿TSH水平调查结果分析

目的 测定新生儿脐带血促甲状腺激素（ＴＳＨ）水平,诊断先天性甲状腺功能低下症,评价人群碘营养状况。方法 采用滤纸片（全血）ＴＳＨ酶联免疫测定方法。结果 ５个地区４０００份新生儿脐带血ＴＳＨ〉５ｍＵ／Ｌ者占２９．９％,〉１０ｍＵ／Ｌ者占１０。．８％,〉２０ｍＵ／Ｌ占１．７％,〉３０ｍＵ／Ｌ的有７例,经复查确诊１例为先天性甲状腺功能低下症,甲低检出率为０．２５‰。结论 该人群仍存在缺碘问题。     

Transient neonatal tyrosinaemia

Children who had presented with transient neonatal tyrosinaemia (TNT) were compared with a group of unaffected controls at 7-9 years of age. A comprehensive psychometric assessment revealed significant differences between the groups in adaptive behaviour, psycholinguistic abilities, and speed of learning. In nearly all components of the tests used, higher levels of TNT were associated with lower levels of performance. This study demonstrates that TNT, a condition commonly regarded as benign in the short term, has long-term effects which may be detrimental to the child in school.     

Idiopathic neonatal iron-storage disease

A 21-day-old infant presented with anemia, conjugated hyperbilirubinemia, hypoproteinemia, and a severe coagulopathy. The hospital course was marked by progressive hepatic failure, encephalopathy, and renal insufficiency. The infant died on day 15 of hospitalization. Postmortem examination showed diffuse hepatic fibrosis and marked siderosis of the liver, pancreas, kidney, adrenal glands, and the duodenal epithelium, with sparing of the reticuloendothelial system. These findings were characteristic of idiopathic neonatal iron-storage disease. Previously reported cases are summarized and discussed. An increased awareness and understanding of this rapidly fatal disorder will be important for genetic counseling and possibly in defining an aberrant mechanism in the handling of iron.     

Factitious transient neonatal hyperthyrotropinemia

We report an infant with abnormally elevated levels of TSH determined in the Maryland State Laboratory for Neonatal Thyroid Screening, but normal levels in three other laboratories. The TSH level in the infant normalized by six months of age. The mother, who had a history of sarcoidosis, also had factitious hyperthyrotropinemia in the Maryland State Laboratory. Gel chromatography and ammonium sulfate precipitation of maternal serum demonstrated that the factor responsible for the factitious hyperthyrotropinemia was an immunoglobulin G. Maternal TSH levels in the Maryland State Laboratory were normalized by treatment of serum with polyethylene glycol. However, protein electrophoresis, immunoglobulin levels and immunofixation electrophoresis were all normal. We conclude that a subclass of immunoglobulins G, probably resulting from sarcoidosis, interfered with the precipitation of the TSH-antibody complex in the TSH radioimmunoassay of the Maryland State Laboratory.     

Fetal and neonatal thrombocytopenia

Fetal and neonatal thrombocytopenia (NNT) may lead to bleeding and to death or neurological sequelae. NNT affects 25-40% of the infants in intensive care units and even in the absence of bleeding, must be considered as a potentially valuable sign. There are various causes, the main one being bacterial or viral infection, followed by immune thrombocytopenia which may be due to maternal autoantibodies or alloantibodies that cross the placenta. Management during pregnancy aims to prevent fetal bleeding especially in the central nervous system, and to avoid birth trauma. Percutaneous umbilical blood sampling provides a direct measure of the fetal platelet count and makes it possible to assess the effectiveness of therapy. Other causes, such as disseminated intravascular coagulation, local platelet consumption or antenatal hypoxia, must also be considered. Finally, the accuracy of the diagnosis of the mechanism of NNT will determine the specific management for the mother, the newborn and any subsequent pregnancy.     

The neonatal lupus syndrome

The neonatal lupus syndrome and congenital heart block are strongly associated with the presence of antibodies to the ribonucleoprotein antigen Ro. The study of these conditions has given insight into possible pathogenetic mechanisms operating in connective tissue diseases.     

Maternal and neonatal tetanus

Maternal and neonatal tetanus are important causes of maternal and neonatal mortality, claiming about 180 000 lives worldwide every year, almost exclusively in developing countries. Although easily prevented by maternal immunisation with tetanus toxoid vaccine, and aseptic obstetric and postnatal umbilical-cord care practices, maternal and neonatal tetanus persist as public-health problems in 48 countries, mainly in Asia and Africa. Survival of tetanus patients has improved substantially for those treated in hospitals with modern intensive-care facilities; however, such facilities are often unavailable where the tetanus burden is highest. The Maternal and Neonatal Tetanus Elimination Initiative assists countries in which maternal and neonatal tetanus has not been eliminated to provide immunisation with tetanus toxoid to women of childbearing age. The ultimate goal of this initiative is the worldwide elimination of maternal and neonatal tetanus. Since tetanus spores cannot be removed from the environment, sustaining elimination will require improvements to presently inadequate immunisation and health-service infrastructures, and universal access to those services. The renewed worldwide commitment to the reduction of maternal and child mortality, if translated into effective action, could help to provide the systemic changes needed for long-term elimination of maternal and neonatal tetanus.