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Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand. 父母对当前和未来新生儿血斑筛查的意识、知识和态度:来自泰国的第一份报告。
IF 3.5 Q1 GENETICS & HEREDITY Pub Date : 2023-05-03 DOI: 10.3390/ijns9020025
Kalyarat Wilaiwongsathien, Duangrurdee Wattanasirichaigoon, Sasivimol Rattanasiri, Chanatpon Aonnuam, Chayada Tangshewinsirikul, Thipwimol Tim-Aroon

Newborn screening (NBS) is a public health service that is used to screen for treatable conditions in many countries, including Thailand. Several reports have revealed low levels of parental awareness and knowledge about NBS. Because of limited data on parental perspectives toward NBS in Asia and the differences in socio-cultural and economic contexts between Western and Asian countries, we conducted a study to explore parental perspectives on NBS in Thailand. A Thai questionnaire to assess awareness, knowledge, and attitudes regarding NBS was constructed. The final questionnaire was distributed to pregnant women, with or without their spouses, and to parents of children aged up to one year who visited the study sites in 2022. A total of 717 participants were enrolled. Up to 60% of parents were identified as having good awareness, which was significantly associated with gender, age, and occupation. Only 10% of parents were classified as having good knowledge relative to their education level and occupation. Providing appropriate NBS education should be initiated during antenatal care, focusing on both parents. This study noted a positive attitude toward expanded NBS for treatable inborn metabolic diseases, incurable disorders, and adult-onset diseases. However, modernized NBS should be holistically evaluated by multiple stakeholders in each country because of different socio-cultural and economic contexts.

新生儿筛查是一项公共卫生服务,在包括泰国在内的许多国家用于筛查可治疗的疾病。几份报告显示,家长对国家统计局的认识和了解程度很低。由于亚洲父母对国家统计局的看法的数据有限,以及西方和亚洲国家之间社会文化和经济背景的差异,我们进行了一项研究,探讨泰国父母对国家统计局的看法。构建了一份泰国调查问卷,以评估对国家统计局的认识、知识和态度。最终的调查问卷被分发给孕妇,无论是否有配偶,以及在2022年访问研究地点的一岁以下儿童的父母。共有717名参与者被纳入研究。高达60%的家长被认为具有良好的意识,这与性别、年龄和职业显著相关。只有10%的父母被归类为具有与他们的教育水平和职业相关的良好知识。应在产前保健期间开始提供适当的NBS教育,重点是父母双方。本研究表明,对于可治疗的先天性代谢疾病、无法治愈的疾病和成人发病疾病,人们对扩大NBS持积极态度。然而,由于每个国家的社会文化和经济背景不同,现代化的国家统计局应该由多个利益相关者进行整体评估。
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引用次数: 1
Foetal Haemoglobin as a Marker of Bone Marrow Suppression Secondary to Anti-Kell Alloimmunisation. 胎儿血红蛋白是继发于抗 Kell Alloimmunisation 的骨髓抑制的标志物。
IF 4 Q1 GENETICS & HEREDITY Pub Date : 2023-04-23 DOI: 10.3390/ijns9020024
Rodrigo Alfredo Morales Painamil, José Manuel González de Aledo-Castillo, Marta Teresa-Palacio, Ana Argudo-Ramírez, Rosa M López-Galera, Abraham J Paredes-Fuentes, Victoria Aldecoa-Bilbao, Miguel Alsina-Casanova

Anti-Kell alloimmunisation is a potentially severe minor blood group type incompatibility, not only as a cause of haemolytic disease of the foetus and newborn, but also due to the destruction of red blood cells (RBC) and mature form in the bone marrow with the subsequent hyporegenerative anaemia. In severe cases and when the foetus shows signs of anaemia, an intrauterine transfusion (IUT) may be necessary. When repeated, this treatment can suppress erythropoiesis and worsen the anaemia. We report the case of a newborn who required four IUTs plus an additional RBC transfusion at one month of life due to late onset anaemia. The identification of an adult haemoglobin profile with a complete absence of foetal haemoglobin in the patient's newborn screening samples at 2 and 10 days of life warned us of a possible late anaemia. The newborn was successfully treated with transfusion, oral supplements and subcutaneous erythropoietin. A blood sample taken at 4 months of life showed the expected haemoglobin profile for that age with a foetal haemoglobin of 17.7%. This case illustrates the importance of a close follow-up of these patients, as well as the usefulness of the haemoglobin profile screening as a tool for anaemia assessment.

抗凯尔异体免疫是一种潜在的严重的小血型不相容,不仅会导致胎儿和新生儿溶血性疾病,还会破坏骨髓中的红细胞和成熟型红细胞,进而导致低再生性贫血。在严重的情况下,当胎儿出现贫血症状时,可能需要进行宫内输血(IUT)。反复进行这种治疗会抑制红细胞生成,加重贫血。我们报告了一例新生儿病例,该新生儿因迟发性贫血,在出生一个月时需要进行四次宫内输血和一次额外的红细胞输血。在患者出生后 2 天和 10 天的新生儿筛查样本中,我们发现了成人血红蛋白图谱,而且完全没有胎儿血红蛋白,这提醒我们可能出现了晚期贫血。通过输血、口服补充剂和皮下注射促红细胞生成素,新生儿得到了成功的治疗。出生 4 个月时采集的血样显示,胎儿血红蛋白为 17.7%,符合该年龄段的预期血红蛋白状况。这个病例说明了对这些患者进行密切随访的重要性,以及血红蛋白谱筛查作为贫血评估工具的实用性。
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引用次数: 0
Infants with Congenital Diseases Identified through Newborn Screening-United States, 2018-2020. 通过新生儿筛查发现先天性疾病的婴儿-美国,2018-2020。
IF 3.5 Q1 GENETICS & HEREDITY Pub Date : 2023-04-13 DOI: 10.3390/ijns9020023
Amy Gaviglio, Sarah McKasson, Sikha Singh, Jelili Ojodu

Newborn screening (NBS) is a state or territory-based public health system that screens newborns for congenital diseases that typically do not present with clinical symptoms at birth but can cause significant mortality and morbidity if not detected or treated quickly. NBS continues to be one of the most successful public health interventions in the US, providing early detection and intervention to all infants. The increase in overall birth prevalence of core Recommended Uniform Screening Panel (RUSP) diseases detected via dried blood spot (DBS) specimens from 2015-2017 (17.50-18.31 per 10,000) to 2018-2020 (20.07 per 10,000), as reported into the APHL NewSTEPs database, affirms the importance and impact of NBS programs. This report presents aggregate numbers and birth prevalence of diseases detected by DBS on the RUSP from 2018-2020, including data from fifty US states and two territories.

新生儿筛查(NBS)是一个以州或地区为基础的公共卫生系统,用于筛查新生儿先天性疾病,这些疾病通常在出生时没有临床症状,但如果不及时发现或治疗,可能导致严重的死亡率和发病率。国家统计局仍然是美国最成功的公共卫生干预措施之一,为所有婴儿提供早期发现和干预。根据APHL NewSTEPs数据库的报告,从2015-2017年(17.50-18.31 / 10,000)到2018-2020年(20.07 / 10,000),通过干血斑(DBS)标本检测到的核心推荐统一筛查小组(RUSP)疾病的总体出生患病率增加,证实了NBS计划的重要性和影响。本报告介绍了2018-2020年DBS在RUSP上检测到的疾病总数和出生患病率,包括来自美国50个州和两个地区的数据。
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引用次数: 1
Newborn Screening in a Pandemic-Lessons Learned. 大流行中的新生儿筛查——经验教训。
IF 3.5 Q1 GENETICS & HEREDITY Pub Date : 2023-04-11 DOI: 10.3390/ijns9020021
Matej Mlinaric, James R Bonham, Viktor Kožich, Stefan Kölker, Ondrej Majek, Tadej Battelino, Ana Drole Torkar, Vanesa Koracin, Dasa Perko, Ziga Iztok Remec, Barbka Repic Lampret, Maurizio Scarpa, Peter C J I Schielen, Rolf H Zetterström, Urh Groselj

The COVID-19 pandemic affected many essential aspects of public health, including newborn screening programs (NBS). Centers reported missing cases of inherited metabolic disease as a consequence of decreased diagnostic process quality during the pandemic. A number of problems emerged at the start of the pandemic, but from the beginning, solutions began to be proposed and implemented. Contingency plans were arranged, and these are reviewed and described in this article. Staff shortage emerged as an important issue, and as a result, new work schedules had to be implemented. The importance of personal protective equipment and social distancing also helped avoid disruption. Staff became stressed, and this needed to be addressed. The timeframe for collecting bloodspot samples was adapted in some cases, requiring reference ranges to be modified. A shortage of essential supplies and protective equipment was evident, and laboratories described sharing resources in some situations. The courier system had to be adapted to make timely and safe transport possible. Telemedicine became an essential tool to enable communication with patients, parents, and medical staff. Despite these difficulties, with adaptations and modifications, some centers evaluated candidate conditions, continued developments, or began new NBS. The pandemic can be regarded as a stress test of the NBS under real-world conditions, highlighting critical aspects of this multidisciplinary system and the need for establishing local, national, and global strategies to improve its robustness and reliability in times of shortage and overloaded national healthcare systems.

COVID-19大流行影响了公共卫生的许多重要方面,包括新生儿筛查计划。各中心报告了由于大流行期间诊断过程质量下降而丢失的遗传性代谢性疾病病例。在大流行开始时出现了一些问题,但从一开始,就开始提出和实施解决办法。制定了应急计划,本文对这些计划进行了审查和描述。工作人员短缺成为一个重要问题,因此必须执行新的工作时间表。个人防护装备和保持社交距离的重要性也有助于避免混乱。工作人员感到压力,这需要加以解决。在某些情况下,对采集血点样本的时间框架进行了调整,需要修改参考范围。基本用品和防护设备的短缺是显而易见的,实验室描述了在某些情况下共享资源的情况。快递系统必须进行调整,以使及时和安全的运输成为可能。远程医疗成为实现与患者、家长和医务人员沟通的重要工具。尽管存在这些困难,通过调整和修改,一些中心评估了候选人的条件,继续发展,或开始新的NBS。此次大流行可被视为国家统计局在现实条件下的压力测试,突出了这一多学科系统的关键方面,以及建立地方、国家和全球战略的必要性,以提高其在国家卫生保健系统短缺和超载时期的稳健性和可靠性。
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引用次数: 0
Genomic-Based Newborn Screening for Inborn Errors of Immunity: Practical and Ethical Considerations. 基于基因组的先天性免疫错误新生儿筛查:实践和伦理考虑。
IF 3.5 Q1 GENETICS & HEREDITY Pub Date : 2023-04-11 DOI: 10.3390/ijns9020022
Jovanka R King, Kalle Grill, Lennart Hammarström

Inborn errors of immunity (IEI) are a group of over 450 genetically distinct conditions associated with significant morbidity and mortality, for which early diagnosis and treatment improve outcomes. Newborn screening for severe combined immunodeficiency (SCID) is currently underway in several countries, utilising a DNA-based technique to quantify T cell receptor excision circles (TREC) and kappa-deleting recombination excision circles (KREC). This strategy will only identify those infants with an IEI associated with T and/or B cell lymphopenia. Other severe forms of IEI will not be detected. Up-front, first-tier genomic-based newborn screening has been proposed as a potential approach by which to concurrently screen infants for hundreds of monogenic diseases at birth. Given the clinical, phenotypic and genetic heterogeneity of IEI, a next-generation sequencing-based newborn screening approach would be suitable. There are, however, several ethical, legal and social issues which must be evaluated in detail prior to adopting a genomic-based newborn screening approach, and these are discussed herein in the context of IEI.

先天性免疫错误(IEI)是一组450多种与显著发病率和死亡率相关的遗传上不同的疾病,早期诊断和治疗可改善结果。一些国家目前正在进行新生儿严重联合免疫缺陷(SCID)筛查,利用基于dna的技术量化T细胞受体切除圈(TREC)和kappa删除重组切除圈(KREC)。这一策略只能识别那些与T和/或B细胞淋巴细胞减少症相关的IEI婴儿。其他严重形式的IEI将不会被发现。基于基因组学的新生儿筛查被认为是一种潜在的方法,可以在婴儿出生时同时筛查数百种单基因疾病。鉴于IEI的临床、表型和遗传异质性,下一代基于测序的新生儿筛查方法将是合适的。然而,在采用基于基因组学的新生儿筛查方法之前,必须详细评估几个伦理、法律和社会问题,本文将在IEI的背景下讨论这些问题。
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引用次数: 4
Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010-2018. 2010-2018年美国首次建议实施新生儿疾病筛查。
IF 3.5 Q1 GENETICS & HEREDITY Pub Date : 2023-04-06 DOI: 10.3390/ijns9020020
Sikha Singh, Jelili Ojodu, Alex R Kemper, Wendy K K Lam, Scott D Grosse

The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS). During 2010-2022, seven conditions were added to the RUSP: severe combined immunodeficiency (SCID) (2010), critical congenital heart disease (CCHD) (2011), glycogen storage disease, type II (Pompe) (2015), mucopolysaccharidosis, type I (MPS I) (2016), X-linked adrenoleukodystrophy (X-ALD) (2016), spinal muscular atrophy (SMA) (2018), and mucopolysaccharidosis, type II (MPS II) (2022). The adoption of SCID and CCHD newborn screening by programs in all 50 states and three territories (Washington, D.C.; Guam; and Puerto Rico) took 8.6 and 6.8 years, respectively. As of December 2022, 37 programs screen for Pompe, 34 for MPS I, 32 for X-ALD, and 48 for SMA. The pace of implementation based on the average additional number of NBS programs per year was most rapid for SMA (11.3), followed by CCHD (7.8), SCID (6.2), MPS I (5.4), Pompe (4.9), and X-ALD (4.7).

推荐统一筛查小组(RUSP)是美国卫生与公众服务部部长建议纳入州新生儿筛查(NBS)的条件列表。2010-2022年期间,RUSP增加了七种情况:严重联合免疫缺陷(SCID)(2010年)、危重先天性心脏病(CCHD)(2011年)、糖原储存病、II型(Pompe)(2015年)、粘多糖病、I型(MPS I)(2016年)、X连锁肾上腺脑白质营养不良(X-ALD)(2016)、脊髓性肌萎缩(SMA)(2018年)和粘多糖症、II型。所有50个州和三个地区(华盛顿特区、关岛和波多黎各)的方案采用SCID和CCHD新生儿筛查分别耗时8.6年和6.8年。截至2022年12月,Pompe有37个节目,MPS I有34个,X-ALD有32个,SMA有48个。基于每年NBS项目的平均额外数量,SMA的实施速度最快(11.3),其次是CCHD(7.8)、SCID(6.2)、MPS I(5.4)、Pompe(4.9)和X-ALD(4.7)。
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引用次数: 7
Newborn Screening Knowledge, Attitudes and Practices among Obstetrics-Gynecology Residents, Pediatric Residents, and Newborn Screening Nurses in a Tertiary Government Hospital in the Philippines during the COVID-19 Pandemic. 2019冠状病毒病大流行期间菲律宾某三级政府医院妇产科住院医师、儿科住院医师和新生儿筛查护士的新生儿筛查知识、态度和做法
IF 3.5 Q1 GENETICS & HEREDITY Pub Date : 2023-04-01 DOI: 10.3390/ijns9020019
Patrick Jose D Padilla, Eileen M Manalo

Newborn Screening (NBS) saves babies from mental retardation and death. In the Philippines, it was formally established by law in 2004. Program success requires physicians, nurses, and midwives to educate and motivate parents. The COVID-19 pandemic reduced NBS coverage from 91.6% to 80% between December 2019 and December 2020. This study aimed to (1) determine the knowledge, attitudes, and practices of residents and nurses relative to NBS during the COVID-19 pandemic; and (2) identify possible factors that may have affected NBS services at the Philippine General Hospital during the pandemic. Participants' demographics were also compared with NBS practices. The study enrolled 189 participants employed during 2020. The results of a self-administered online questionnaire were evaluated. Only 31% of participants scored above a mean passing level for NBS knowledge set by experts. Most participants expressed a favorable attitude towards NBS. Knowledge scores were a significant factor in favorable attitude. Obstetrics-gynecology residents had lower attitude scores than Pediatric residents and NBS Nurses. Prenatal parent education was only practiced by 1/3 of participants. Despite the obstacles of the COVID-19 pandemic, participants appreciated the value of the NBS and were willing to perform specimen collection using safety precautions. Participants identified the need for additional NBS training. The challenges identified provide an avenue for further research with the goal of strengthening NBS, especially during a public health emergency.

新生儿筛查(NBS)使婴儿免于智力迟钝和死亡。在菲律宾,它于2004年通过法律正式成立。项目的成功需要医生、护士和助产士对家长进行教育和激励。2019年12月至2020年12月,COVID-19大流行使国家统计局的覆盖率从91.6%降至80%。本研究旨在(1)确定COVID-19大流行期间居民和护士对国家统计局的知识、态度和做法;(2)确定疫情期间可能影响菲律宾总医院国家统计局服务的可能因素。参与者的人口统计数据也与国家统计局的做法进行了比较。该研究招募了189名在2020年受雇的参与者。评估了一份自我管理的在线问卷的结果。只有31%的参与者在专家设定的国家统计局知识中得分高于平均及格水平。大多数与会者对国家统计局持肯定态度。知识得分是积极态度的重要因素。妇产科住院医师的态度得分低于儿科住院医师和国家统计局护士。只有三分之一的参与者进行了产前父母教育。尽管受到新冠肺炎大流行的阻碍,但与会代表对国家统计局的价值表示赞赏,并愿意采取安全措施进行标本采集。与会者确定需要额外的国家统计局培训。所确定的挑战为进一步研究提供了途径,目的是加强国家卫生统计,特别是在突发公共卫生事件期间。
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引用次数: 0
Secondary Reporting of G6PD Deficiency on Newborn Screening. 新生儿筛查中G6PD缺乏的二次报告。
IF 3.5 Q1 GENETICS & HEREDITY Pub Date : 2023-03-27 DOI: 10.3390/ijns9020018
Stephanie C Hoang, Pamela Blumenschein, Margaret Lilley, Larissa Olshaski, Aisha Bruce, Nicola A M Wright, Ross Ridsdale, Susan Christian

In April 2019, the Alberta Newborn Screening Program expanded to include screening for classic galactosemia using a two-tier screening approach. This approach secondarily identifies infants with glucose-6-phosphate dehydrogenase (G6PD) deficiency. The goals of this study were (i) to evaluate the performance of a two-tier galactosemia screening protocol, (ii) to explore the impact on and acceptability to families of reporting G6PD deficiency as a secondary finding, and (iii) assess the communication and follow-up process for positive G6PD deficiency screening results. The two-tiered galactosemia approach increased the positive predictive value (PPV) for galactosemia from 8% to 79%. An additional 119 positive newborn screen results were reported for G6PD deficiency with a PPV of 92%. The results show that there may be utility in reporting G6PD deficiency results. Most parents who participated in the study reported having some residual worry around the unexpected diagnosis; however, all thought it was helpful to know of their child's diagnosis of G6PD deficiency. Finally, the communication process for reporting G6PD deficiency newborn screen results was determined to result in appropriate follow up of infants.

2019年4月,艾伯塔省新生儿筛查计划扩大到包括使用两层筛查方法筛查经典半乳糖血症。该方法继发识别葡萄糖-6-磷酸脱氢酶(G6PD)缺乏症的婴儿。本研究的目的是(i)评估两层半乳糖血症筛查方案的性能,(ii)探索对报告G6PD缺陷作为次要发现的家庭的影响和可接受性,以及(iii)评估G6PD缺陷筛查阳性结果的沟通和随访过程。双层半乳糖血症方法将半乳糖血症的阳性预测值(PPV)从8%提高到79%。另有119例G6PD缺乏症新生儿筛查结果呈阳性,PPV为92%。结果表明,报告G6PD缺乏结果可能是有用的。大多数参与这项研究的父母报告说,他们对意外的诊断还有一些担忧;然而,所有人都认为了解自己孩子的G6PD缺乏症诊断是有帮助的。最后,确定报告G6PD缺陷新生儿筛查结果的沟通过程,从而对婴儿进行适当的随访。
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引用次数: 0
A Cross-Sectional Survey of Pediatric Infectious Disease Physicians' Approach to Congenital Cytomegalovirus Infection. 儿科感染性疾病医师治疗先天性巨细胞病毒感染的横断面调查。
IF 3.5 Q1 GENETICS & HEREDITY Pub Date : 2023-03-24 DOI: 10.3390/ijns9020017
Chieko Hoki, Michelle White, Megan H Pesch, Ann J Melvin, Albert H Park

Congenital cytomegalovirus (cCMV) continues to be a major public health care issue due to its high prevalence throughout the world. However, there is a paucity of studies evaluating how providers manage this infection. This study surveyed North American Pediatric Infectious Disease (PID) physicians to elicit their approach towards the evaluation and treatment of this condition. Thirty-two PID physicians responded to this survey. Institutional testing and screening for cCMV were infrequently reported. The respondents in general agreed upon most laboratory and diagnostic testing except for neuroimaging. For those tests, there was a disparity in indications for head ultrasound versus brain MRI imaging. Most (68.8%) agreed with the clinical practice of starting valganciclovir in an infant less than 1 month of age with one sign or symptom of disease, and 62.5% would do so for an infant with isolated sensorineural hearing loss. However, only 28.1% would treat cCMV-infected infants older than 1 month of age. In conclusion, few healthcare institutions represented by PID physicians in this cohort had a cCMV screening or testing initiative, yet most respondents would test at a much higher level based on their clinical practice. While there is general consensus in evaluation and treatment of these children, there are disparities in practices regarding neuroimaging and indications for antiviral treatment with respect to age and severity of disease. There is a great need for an evidence based policy statement to standardize cCMV workup and treatment.

先天性巨细胞病毒(cCMV)仍然是一个主要的公共卫生保健问题,由于其在世界各地的高患病率。然而,缺乏评估提供者如何管理这种感染的研究。本研究调查了北美儿科传染病(PID)的医生,以引出他们对这种疾病的评估和治疗方法。32名PID医生回应了这项调查。机构检测和筛查cCMV的报道很少。除了神经成像之外,受访者普遍同意大多数实验室和诊断测试。对于这些测试,头部超声和脑部MRI成像的适应症存在差异。大多数(68.8%)的人同意临床实践中对有疾病体征或症状的小于1个月的婴儿开始使用缬更昔洛韦,62.5%的人同意对孤立性感音神经性听力损失的婴儿开始使用缬更昔洛韦。然而,只有28.1%的人会治疗1个月以上感染ccmv的婴儿。总之,在这个队列中,以PID医生为代表的医疗机构很少有cCMV筛查或检测的主动性,但大多数受访者会根据他们的临床实践进行更高水平的检测。虽然在这些儿童的评估和治疗方面存在普遍共识,但在神经影像学和抗病毒治疗指征方面的实践与年龄和疾病严重程度有关。迫切需要一个基于证据的政策声明来规范cCMV的检查和治疗。
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引用次数: 1
A Positive Newborn Screen for Congenital Hypothyroidism in a Clinically Euthyroid Neonate-Avoiding Unnecessary Treatment. 临床甲状腺功能正常新生儿先天性甲状腺功能减退筛查阳性-避免不必要的治疗。
IF 3.5 Q1 GENETICS & HEREDITY Pub Date : 2023-03-23 DOI: 10.3390/ijns9020016
Ashleigh Brown, Paul Hofman, Bobby Li, Campbell Heron, Natasha Heather

Newborn screening for congenital hypothyroidism (CH) has dramatically improved the neurocognitive outcomes for newborns with a confirmed positive screening test result. However, screening yields a small number of false positive and false negative results. This report describes the first known case of familial dysalbuminaemic hyperthyroxinaemia presenting with a positive newborn thyroid stimulating hormone screen. This condition is characterized by artefactually elevated free tetraiodothyronine (T4) and triiodothyronine (T3) levels due to increased albumin binding and subsequent dissociation during laboratory assays but normal true free thyroid hormone and thyroid stimulating hormone (TSH) levels in a clinically euthyroid subject. This highlights the need to take care when attributing clinical significance to discordant results.

新生儿筛查先天性甲状腺功能减退症(CH)显著改善了新生儿的神经认知结果与确认阳性筛查试验结果。然而,筛查产生少量假阳性和假阴性结果。本报告描述了第一例已知的家族性白蛋白异常高甲状腺血症,呈现阳性新生儿促甲状腺激素筛查。这种情况的特点是,在实验室检测中,由于白蛋白结合和随后的解离增加,游离四碘甲状腺原氨酸(T4)和三碘甲状腺原氨酸(T3)水平人为升高,但在临床上甲状腺功能正常的受试者中,真正的游离甲状腺激素和促甲状腺激素(TSH)水平正常。这突出了在将临床意义归因于不一致结果时需要注意的问题。
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引用次数: 0
期刊
International Journal of Neonatal Screening
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