自贡市新生儿短链酰基辅酶A脱氢酶缺乏症筛查及确诊结果分析

目的 分析自贡市新生儿短链酰基辅酶A脱氢酶缺乏症(SCADD)的患病率,总结患儿的临床特征及基因突变特点.方法 选取2018年5月至2021年2月于自贡市妇幼保健院自愿接受遗传代谢病筛查的自贡市新生儿24384名.应用串联质谱技术对新生儿的酰基肉碱水平进行筛查检测,初筛及复查阳性者通过尿有机酸分析及遗传代谢病目标捕获测...     

Citrin缺陷致肝内胆汁淤积症患儿的血串联质谱及尿气相色谱分析

目的 探讨Citrin缺陷导致的新生儿肝内胆汁淤积症(NICCD)的诊断方法.方法 婴儿胆汁淤积、黄疸63例,其中确诊为NICCD 5例.对确诊患儿的临床表现、常规实验室检查结果、血串联质谱和尿气相色谱进行分析.结果 NICCD患儿临床表现为黄疸,不同程度的肝脾肿大,肝功能异常并伴有凝血功能异常、高氨血症、高甲胎蛋白、不同程度贫血.血串联质谱分析发现患儿瓜氨酸、甲硫氨酸、苏氨酸、酪氨酸水平升高,长链酰基肉碱C14、C16水平升高.尿气相色谱有机酸分析发现患儿苯乳酸-2、尿4-羟基苯乳酸、4-羟基苯丙酮酸和4-羟基苯乙酸水平升高.结论 NICCD早期临床表现及常规实验室检查结果无特异性,早期进行血串联质谱分析、尿气象色谱分析对明确NICCD的诊断具有重要意义.     

新生儿先天性梅毒的早期诊断和治疗

目的 分析新生儿先天性梅毒进行早干预、早诊断、早治疗和减少新生儿病残率和死亡率的效果.方法 对28例确诊先天性梅毒的新生儿进行临床资料和治疗转归分析.结果 本组25例经治疗后,临床症状基本消失,出院后3个月复查TPHA试验均阴性.结论 对高危孕妇、高危儿常规进行筛查及随访,做到早期干预确诊、早期诊治、早期治疗.     

2015年5月—2021年12月于菏泽市出生的296 106例新生儿希特林蛋白缺乏致肝内胆汁淤积症的筛查

目的 了解2015年5月—2021年12月于菏泽市出生的296 106例新生儿希特林蛋白缺乏致肝内胆汁淤积症的筛查情况。方法 采集2015年5月—2021年12月菏泽市出生的296 106例新生儿足跟血，筛查新生儿中希特林蛋白缺乏致肝内胆汁淤积症，初筛手段为液相色谱串联质谱检测，复筛手段为液相色谱串联质谱、气相色谱质谱、血甲胎蛋白（AFP）、SLC25A13基因检测。结果 确诊希特林蛋白缺乏致肝内胆汁淤积症患儿16例，患病率16/296 106，检出率13/16；其中初筛因特异性瓜氨酸值升高确诊8例，非特异性指标值异常复筛确诊5例，发病后复筛确诊3例。与初筛相比，复筛部分串联质谱结果有显著改变，尿气相色谱、血AFP、SLC25A13基因等各项检查结果均有明显异常；共发现11个SLC25A13基因突变位点，以c. 852＿855del最常见，占50%，其次为IVS16ins3kb，占33%。结论 希特林蛋白缺乏致肝内胆汁淤积症大部分病例可通过串联质谱技术初筛出来，复筛应联合尿气相色谱、血AFP、SLC25A13基因检测等以提高此病的检出率。     

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。     

新生儿先天性甲状腺功能减退症的筛查及临床分析

目的：开展新生儿先天性甲状腺功能减退症（CH）的筛查及临床治疗,以期降低残疾儿童的发生率,提高我国人口素质,方法：应用国际先进的时间分辨荧光免疫法（Tr-FIA)检测新生儿滤纸干血片上TSH的[浓度筛查CH;且对筛查阳性的患儿进行临床分析。结果：筛查新生儿315 472例,确诊CH者66例,包括47例典型甲减,19例亚临床甲减,筛查阳性率为1／4 780,47例典型病例最终诊断为永久性甲减的41例,暂时性甲减2例,2例未满2岁未再作重新评估,1例因其他原因夭折,1例放弃,19例亚临床型病例最终诊断永久性甲减7例,暂时性甲减4例,商TSH血症5例,有3例未满2岁未再作重新评估,随访患儿目前体格及智力发育皆正常,结论：Tr-FIA法是筛查CH十分理想的非放射性免疫分析技术,筛查阳性的CH患儿,包括甲减和亚临床甲减病例,都应给以及时合理剂量甲状腺素治疗,是否终身治疗则需要根据2岁及5岁的重新评估作出决定。     

婴儿原发性肉碱缺乏症伴短QT综合征一例

患儿男,6个月,因支气管炎入院治疗,三天内病情迅速进展,追问病史得知患儿新生儿期串联质谱筛查诊断为肉碱缺乏症。其确诊后针对肉碱缺乏症给予左卡尼汀1个月,之后其家属自行停药,此次因感染诱发多器官功能衰竭。其心电图呈现为短QT综合征的表现。     

新生儿不规则抗体检测的临床意义

目的：检测新生儿红细胞血型不规则抗体,探讨不规则抗体与新生儿溶血病的关系。方法：对521例新生儿溶血病待确诊患儿通过微柱凝胶卡进行直接抗人球白试验、游离抗体测定、放散试验,不规则抗筛选阳性标本进一步进行不规则抗体鉴定,同时进行不规则抗筛选阳性患儿母亲血型鉴定及不规则抗体筛选、鉴定。结果：检测出抗-D 4例,抗-E 3例,抗-c1,抗-M 1例。结论：应重视孕妇IgG类红细胞血型不规则抗体筛查;根据不规则抗体的特性,可为患儿选择无相应抗原的血液进行综合治疗和换血。     

2013～2019年青岛市新生儿高苯丙氨酸血症筛查情况及基因突变分析

目的分析2013～2019年青岛市新生儿高苯丙氨酸血症(HPA)筛查情况及基因突变情况。方法选择2013年1月1日～2019年12月31日在青岛市具有接产资格的96家医院出生并参加HPA筛查的新生儿375 697例,采集足跟血,采用串联质谱非衍生化法进行新生儿HPA筛查,应用DNA质谱基因分析技术对患儿苯丙酸羟化酶(PAH)及BH4合成代谢相关基因(PTS、GCH1)的184个突变位点进行检测。结果参加HPA筛查的375 697例新生儿中,确诊HPA 69例,PAH缺乏症64例、四氢生物蝶呤(BH4)缺乏症5例,PAH缺乏症患儿中轻度HPA 23例、轻度苯丙酮尿症(PKU) 22例、经典PKU 19例。2013～2019年HPA发病率比较P均> 0.05,平均发病率为1.84/万。54例HPA患儿行基因突变位点检测,其中纯合突变1例、杂合突变7例、复合杂合突变46例,存在PAH基因突变50例、BH4基因(PTS基因)突变4例。PAH基因最常见的变异位点为p.R53H(18.95%)、p.R243Q(17.89%)、p.Y356X(7.37%)、p.R241C(6.32%)、p.A...     

住院分娩新生儿12955例苯丙酮尿症筛查现状

目的了解2006年—2009年玉林市妇幼保健院住院分娩新生儿苯丙酮尿症筛查状况,为苯丙酮尿症防治提供资料。方法新生儿苯丙酮尿症筛查指标为血苯丙氨酸,实验方法用细菌抑制法(Guthrie)。以血苯丙氨酸浓度120μmol/L为阳性标准。结果 2006年—2009年玉林市妇幼保健院住院分娩新生儿12955例,接受苯丙酮尿症筛查11967例,筛查率为92.37%,筛查阳性37例,筛查阳性率为3.09‰,37例筛查阳性者均召回复查,确诊为苯丙酮尿症0例。结论玉林市妇幼保健院住院分娩新生儿苯丙酮尿症筛查较高,本地人群接受新生儿苯丙酮尿症筛查,尽管未查到患者,还要继续加强大海捞针式筛查工作,确保早期发现早治疗苯丙酮尿症患者。     

ITP in pregnancy and the newborn: Introduction

Summary Idiopathic thrombocytopenic purpura (ITP) occurs more commonly in young women and is one of the commonest immune mediated disorders in pregnancy. It may exist as an incidental finding in an otherwise healthy pregnant woman or may be associated with symptomatic reduction in the platelet count and varying degrees of clinical hemorrhage. The condition termed incidential thrombocytopenia of pregnancy is invariably associated with a platelet count of greater than 100×10⁹/L and a very low incidence of fetal thrombocytopenia. Symptomatic thrombocytopenia is more commonly associated with low platelet counts in the fetus (estimated between 20%–40%). It has recently been suggested that the incidence of fetal thrombocytopenia is substantially lower than this figure. The management of ITP in pregnancy is complicated by the fact that fetal thrombocytopenia is difficult to diagnose and carries substantial risks during the delivery process with rare cases of fetal hemorrhage occurring spontaneously in utero. Unfortunately there are no laboratory studies that can be performed precisely in the mother that may predict the occurrence of fetal thrombocytopenia. Maternal management is usually directed towards treatment of maternal symptoms. Maternal treatment or response to treatment is inconsistently associated with predictible changes in the fetal platelet count. Obstetric management is aimed at reducing the risks of life threatening fetal hemorrhage occurring at the time of delivery, and fetal management is directed towards the obtaining of fetal platelet samples in order to plan an appropriate strategy for obstetrical delivery. Fetal blood samples are obtained either by a scalp vein puncture at the time of delivey or earlier in gestation by the use of the newer technique termed percutaneous umbilical blood sampling. Fetuses with platelet counts of less then 50×10⁹/L are generally delivered by cesarean section whereas those with counts greater than 50×10⁹/L are allowed to proceed with vaginal delivery assuming no obstetrical contraindications exist. The use of IVIgG therapy during pregnancy has theoretical implications on improving platelet counts in the mother in situations of severe hemorrhage, however cannot be considered to be appropriate treatment for the prevention of fetal thrombocytopenia, since the exogenous transport of IVIgG across the placenta appears to be inconsistent and unpredictible. The mainstay of maternal management continues to be corticosteroids and women who have failed this therapy, who continue to have bleeding or those in whom iatrogenic complications of steroids exist are candidates for IVIgG.Presented at the International Workshop on ITP, August 26 and 27, 1988, Lucerne, Switzerland     

Stenting of patent ductus arteriosus in low birth weight newborns less than 2 kg- procedural safety,feasibility and results in a retrospective study

ObjectiveRetrospective analysis of the feasibility, safety and results of patent ductus arteriosus (PDA) stenting in low birth weight babies weighing < 2 kg. Background: Stenting of patent ductus arteriosus is a well known palliative technique for several years as an alternative to shunt surgery in babies weighing > 2.5–3 kg. Ductal stenting in babies weighing less than 2 kg is not done routinely all around the world due to limited experience and concerns regarding its feasibility and safety in such small subset.MethodsRecords of patients who underwent PDA stenting at our institution from June 2014 to December 2016 were reviewed. In this period, we attempted to do PDA stenting using femoral artery approach in babies weighing < 2 kg. Echocardiography and colour Doppler were used for patient selection and assessment of procedural outcome.ResultsPDA stenting using femoral artery approach was successful in all 5 patients weighing < 2 kg. In this group, patient age ranged from 2 days to 16 days and weighed 1.8 kg to 1.97 kg. All patients had good post-procedure outcome. One patient had stent malposition from aortic end towards main pulmonary artery which was managed by an additional stent.ConclusionPDA stenting is feasible and safe with good end results in carefully selected low birth weight babies weighing < 2 kg.     

Echocardiography and Management of Sick Neonates in the Intensive Care Unit

To evaluate the influence of echocardiographic examination in the clinical management of the sick neonate, 241 patients, admitted to the neonatal intensive care unit of a tertiary referral center that had echocardiograms with data available for review, were enrolled in a retrospective study. Asymptomatic murmurs (45%) followed by extracardiac anomalies/dysmorphic features (24%) were the most common clinical indications for requesting an echocardiogram. Congenital structural abnormalities (33%), hemodynamically significant patent arterial duct (3%), persistent pulmonary hypertension of the newborn (6%), and left ventricular dysfunction (3%) were the echocardiographic findings that subgrouped as structural or functional abnormalities. Patent oval foramen and hemodynamically nonsignificant patent arterial duct (20%) and physiologic pulmonary artery stenosis (1%) were categorized as normal structural group. Thirty‐four percent of neonates had normal heart anatomy. This investigation changed the clinical management in at least 66% of newborns scanned, including emergency surgical intervention for 7%, medical treatment for 22%, and routine cardiologic follow‐up for 37% of patients. Asymptomatic murmur in our critically ill neonates has been associated with a higher incidence of cardiac disease. Hence, echocardiography is an important tool for diagnosis of cardiac abnormalities that can influence the management and outcome of the sick newborn in the intensive care unit. A preliminary echocardiogram performed by the neonatologist under the supervision of a pediatric cardiologist for interpretation and review is an alternate when there is not a cardiologist “in house.”     

Folate and iron deficiencies in mothers and their newborn children

Summary Iron and folate status was assessed in 79 multiparous French women and 21 immigrant parturient women, previously defined as belonging to a high risk population for nutritional deficiencies, and their newborn infants. Maternal hemoglobin was correlated with ferritinemia and with serum folate values; weight gain during pregnancy appeared to be correlated with mother's iron status at start of labour and gestation duration with folate status. The need of iron and folic supplementation is emphasized for such groups. While a correlation appeared between maternal and newborn values for serum and red blood cell folates and for the RBC indices, no statistical difference was found between the infants born to iron or folate deficient mothers when compared with others.     

Analysis of the GH content within archived dried blood spots of newborn screening cards from children diagnosed with growth hormone deficiency after the neonatal period

Objective

It is unknown whether GH secretion of children with growth hormone deficiency (GHD) is already diminished at birth. We aimed to determine the GH content within archived dried blood spots of newborn screening cards from children diagnosed with GHD at childhood.

Design

At our hospital, all children with the diagnosis of GHD and an actual age < 10 years were identified. For 16 patients (mean age, 7.4 years; range, 1.0–9.7), screening cards were available. The archived dried blood from the first 48 to 96 h of life was eluated in buffer of a highly sensitive hGH-ELISA to measure the GH content. Reference values were calculated based on 600 anonymous newborn screening cards of different ages.

Results

Median GH content within the archived dried blood spots of the reference had declined by 30% during the first year and by further 35% during the next 8.5 years of storage. After correction for time of storage, four out of the 16 archived dried blood spots of the GHD children contained low amounts of GH (≤ 5th percentile). Diminished GH secretion at birth was absent in isolated GHD, but associated with multiple pituitary hormone deficiency (MPHD) (P = 0.0013), ectopic neurohypophysis (P = 0.0013), lower GH test peak values (P = 0.02) and higher weight at diagnosis (P = 0.015).

Conclusions

Children with isolated GHD have normal GH secretory capacity during the first week of life while the majority of children with MPHD and pituitary malformation were GH deficient immediately after birth.     

Echocardiographic Diagnosis and Transcatheter Occlusion of Pulmonary Arteriovenous Fistula in Cyanotic Newborn

Pulmonary arteriovenous malformation (PAVM) is a rare cause of cyanosis in newborn. A 12‐day‐old male newborn (2.8 kg) was referred to our hospital with the complaints of cyanosis and respiratory distress. On two‐dimensional echocardiography, the right pulmonary artery (PA) appeared larger than left PA and the left atrium, left ventricle were dilated. The right heart chambers were in normal limits. A color flow Doppler echocardiogram revealed a turbulent flow due to a PAVM originating from medium branch of right PA, and continuous wave Doppler showed continuous flow pattern. Agitated saline injection resulted in the delayed appearance of the contrast in the left‐side chambers three to four heart cycles after appearance in the right‐side chambers; the study was considered positive and indicative of an intrapulmonary shunt. Selective angiography of the right PA confirmed the diagnosis of a large solitary PAVM in the right middle lobe with a feeding artery. Amplatzer vascular plug I, which is designed to close abnormal vascular structures, was chosen to close the PAVM. The deployment of device performed safely and the oxygen saturation of baby increased to 95% immediately after deployment. Heart failure and respiratory distress also resolved after the procedure.