昆山市新生儿先天性心脏病筛查管理模式探讨

目的探讨昆山市新生儿先天性心脏病筛查及管理模式。方法 2011年8月至2012年12月对昆山市出生的活产儿22 212例,在生后7 d内筛查先天性心脏病,对于初筛阳性的新生儿用彩色多普勒超声心动图进行确定诊断,对彩超诊断异常患儿定期随访。结果初筛新生儿中确诊心脏彩超异常334例,其中房间隔缺损(ASD)86例,室间隔缺损(VSD)66例,动脉导管未闭(PDA)120例,法洛四联症(TOF)3例,复杂性先天性心脏病(CCHD)1例,肺动脉狭窄(PS)5例,其他合并两种及以上先天性心脏异常53例。昆山市初筛儿童中心脏彩超异常发生率为1.5%,其中以PDA(0.56%)最高,ASD次之(0.53%)。对334例心脏彩超异常患儿进行定期随访,其中手术23例(6.89%),缺损自行闭合93例(27.84%),失访83例(24.85%),需进一步干预138例(41.31%)。结论新生儿先天性心脏病病筛查-转诊-干预模式有助于提高先天性心脏病检测筛查水平。     

彩色多普勒超声心动图顺序分段诊断新生儿复杂型先天性心脏病

目的 评价彩色多普勒超声心动图顺序分段法诊断新生儿复杂型先心病的准确性和临床价值。方法 采用多普勒超声心动图顺序分段法诊断新生儿复杂型先心病３２例,包括完全性大血管转位６例,肺动脉闭锁４例,完全或部分肺静脉回流异常８例,单心室６例,单心房及心房位置异常５例,右室双出口２例,三尖瓣闭锁２例及其它畸形。按心脏大血管各节段顺序比较超声及病理。结果 １．心房位置关系：超声诊断的特异度为９６．６％,敏感度１     

彩色多普勒超声心动图512评价例新生儿非青紫型心脏病

目的 彩色多普勒超声心动图（CDE）评价新生儿非青紫型心脏病。方法：应用CDE诊断非青紫型心脏病512例，以单纯型室缺（VSD）发病率最高，为35％，其次为动脉导管未闭（PDA），为32％，房间隔缺损（ASD），为11％，其它22％。22例尸解对比结果与CDE探查完全一致。结论：CDE是评价新生儿非青紫型心脏病的最有效的方法。     

彩色多普超声心动图评价512例新生儿非青紫型心脏病

目的彩色多普勒超声心动图(CDE)评价新生儿非青紫型心脏病.方法应用CDE诊断非青紫型心脏病512例,以单纯型室缺(VSD)发病率最高,为35%,其次为动脉导管未闭(PDA),为32%,房间隔缺损(ASD),为11%,其它22%.22例尸解对比结果与CDE探查完全一致.结论CDE是评价新生儿非青紫型心脏病的最有效的方法.     

新生儿危重先天性心脏病206例临床分析

目的总结以往5年危重新生儿先天性心脏病(简称先心病)诊治资料,以期进一步提高新生儿先心病的诊治水平。方法对近5年内入住本院NICU的206例先天性心脏病患儿的临床表现、多普勒彩色超声检查结果、内外科治疗措施和预后进行回顾性分析。结果(1)新生儿先心病主要表现为中央性青紫和心功能不全,个别可合并心律失常。(2)在新生儿期出现症状的先心病以复杂型为主,占75.7%。其中完全性大动脉转位居首位,其他依次为肺动脉闭锁、完全性肺静脉异位引流和重度肺动脉狭窄;左向右分流型先心病则占24.3%,主要为存在多水平分流的复合型心内畸形。(3)内科治疗主要为抗心功能不全和应用前列腺素E1改善缺氧状况;在新生儿期施行外科手术共48例,以大动脉转位居多。(4)高达45.6%的患儿在明确诊断后因家长放弃治疗而出院。结论在新生儿期出现症状的先心病多存在心血管的复杂或复合畸形,病情危重。及时明确诊断并给予适当的内外科治疗是提高患儿生存率和改善预后的关键。     

新生儿发绀型先天性心脏病102例

目的了解新生儿发绀型先天性心脏病的类型分布及临床特点。方法对可疑病例予彩色多普勒超声心动图(CFM)检查,死亡病例尸解。结果本组完全性大血管转位最多见,占34.3%,多为复合畸形。临床表现以发绀最常见,占84.3%,部分病人无发绀、气促、心脏杂音。复合畸形患儿多并Ⅱ型呼吸衰竭、代谢性酸中毒。结论发绀型先天性心脏病类型众多,临床表现不典型,对可疑病例应尽早作CFM检查。     

大兴妇幼保健院1年中所出生足月新生儿先天性心脏病的筛查和随访

根据北京市儿童保健所统计，本市5岁以下儿童死因的顺位，自1992年以来，先心病是第3位或第2位，自1998年至2001年持续高居首位。在1岁以下婴儿死因的顺位中，自1996年起至2001年先心病由第3位渐至第2位或第1位。根据北京市计划生育技术研究指导所统计，本市先天缺陷的顺位，     

彩色多普超声心动图评价512例新生儿非青紫型心脏病

目的　彩色多普勒超声心动图 (CDE)评价新生儿非青紫型心脏病。方法 :应用CDE诊断非青紫型心脏病 5 1 2例 ,以单纯型室缺 (VSD)发病率最高 ,为 35 % ,其次为动脉导管未闭 (PDA) ,为 32 % ,房间隔缺损 (ASD) ,为 1 1 % ,其它 2 2 %。 2 2例尸解对比结果与CDE探查完全一致。结论 :CDE是评价新生儿非青紫型心脏病的最有效的方法     

Clinical and echocardiographic evaluation of neonates with heart murmurs

Abstract In this study, 116 neonates (58M, 58F), aged 12h to 14d, with heart murmurs were examined by echocardiography: 26 were preterm and 90 full-term neonates. The clinical diagnosis was classified into definite heart disease, possible heart disease and innocent murmur. The final diagnosis was based on echocardiography and, in some cases, cardiac catheterization or surgery. The results showed that 97 (84%) neonates had heart diseases; 19(16%) had a normal heart, including 7 with tricuspid regurgitation and 9 with physiological peripheral pulmonic stenosis. Out of 88 neonates with clinically definite heart disease, the final diagnosis was changed to normal heart in 9 (10%) cases and the lesion-specific diagnosis was changed in 9 (10%) neonates. In four cases, the clinical diagnosis of ventricular septal defect or pulmonary stenosis was changed to double-outlet right ventricle, single ventricle, hypoplastic left heart syndrome or tetralogy of Fallot. The clinical diagnosis was correct in 77–85% for varying simple lesions. In 5 of 21 neonates with clinically possible heart disease, the diagnosis was changed to normal heart. In one of six neonates with clinically innocent murmurs, the diagnosis was changed to small muscular ventricular septal defect. We concluded that 84% of heart murmurs in neonates were due to heart diseases and only 16% were innocent murmurs. Although clinical evaluation could determine the presence or absence of heart disease in most neonates, the lesion-specific diagnosis was not quite satisfactory. Echocardiography is necessary for neonates with a clinically diagnosed heart disease or possible heart diseases, and may be unnecessary for those with innocent murmurs diagnosed by paediatricians.     

Evaluation of a child with suspected congenital heart disease

Congenital heart disease (CHD) is the most common congenital malformation in the United Kingdom (UK). Despite major advances in diagnosis and management over the last decade, CHD remains a leading cause of infant morbidity and mortality. Current existing screening tools fail to identify up to 39–50% of children with CHD before discharge from hospital. Pulse oximetry screening has been well studied and seems a promising screening tool. Combined use of pulse oximetry with fetal anomaly screening and routine newborn examination potentially could detect up to 75–92% of critical CHDs in asymptomatic infants. Notably pulse oximetry screening has yet to be incorporated as part of universal screening programme in the United Kingdom. Echocardiography remains the gold standard investigation but may not be always available. A detailed history and thorough clinical examination are of paramount significance in suspected CHD in infants. As the clinical presentation can mimic or overlap with other common conditions in infancy (sepsis, respiratory or metabolic condition), a high index of suspicion with a systematic approach is vital for the timely diagnosis and management.     

Fetal echocardiography in the diagnosis of congenital heart disease

Abstract Fetal echocardiography provides an opportunity to diagnose congenital heart disease as early as the midtrimester of pregnancy, allowing for proper planning of perinatal care and counselling of the parents. This paper reviews the accuracy and outcomes of fetal cardiac ultrasound studies at The Prince Charles Hospital over the past 4 years.
A total of 43 fetuses, of gestational ages 16–39 weeks, were studied. The indications for these were: previous sibling with cardiac anomaly (16 cases); abnormal heart on obstetric ultrasound scan (USS) (13 cases); abnormalities found on obstetric USS with normal appearing heart (one case); fetal bradycardia (seven cases); fetal tachycardia (four cases); irregular fetal heart beat (two cases).
At birth all fetuses assessed because of a previously affected sibling were normal. Of the 13 referred because of structural heart lesions suspected on obstetric USS, eight were abnormal, four were normal and one was terminated without autopsy. Important rhythm disturbances occurred in nine of the 11 referred because of abnormal heart rates. One false positive diagnosis of a possible coarctation was made, and in four cases an abnormality was noted on USS but the diagnosis was not completely correct. Nine of the 19 infants with abnormalities detected have died.
Fetal echocardiography is an accurate and useful method of diagnosing congenital heart disease in utero . Although the mortality of affected fetuses is high, antenatal diagnosis allows planning of medical care and offers the greatest chance of a successful outcome.     

Progression of congenital heart disease in the prenatal period

BACKGROUND: Prenatal echocardiography has shown evidence of prenatal development of congenital heart disease. Prenatal cardiac anatomy, chamber size and function change during gestation, so that the appearance of cardiac structure in abnormal hearts may be different from that which is usually seen postnatally. METHODS: Published prenatal echocardiographic studies were reviewed and in utero development of congenital heart disease from midtrimester to the early postnatal period is discussed. RESULTS: The growth of the great vessels and ventricles is reduced in fetuses with ventricular outflow obstruction. Valve regurgitation may progress. The foramen ovale and ductus arteriosus have been reported to become restrictive in utero in several settings. Pulmonary vascular obstructive changes may progress prenatally. Fetal arrhythmia (both bradycardia and tachycardia) may develop in utero. Development of congestive heart failure is a very important issue during follow up of fetuses with significant cardiac or extracardiac problems. Some may progress to fetal hydrops and prognosis of the affected fetuses is usually very poor. CONCLUSIONS: Correct knowledge of possible development is important for accurate prenatal diagnosis. Information on prenatal progression of the cardiac anomaly is also important to make plans for follow up and perinatal management, to predict outcomes and to counsel family. Furthermore, the benefits of prenatal treatment instead of postnatal treatment should be assessed by the accurate prediction of the progression of the cardiac problem in utero. Further extensive studies using a large number of cases is required to predict progression accurately. In addition, further studies for elucidating the mechanisms of progression is important to provide better outcomes for fetuses with various congenital heart diseases.     

复杂性先天性心脏病的超声诊断

超声心动图诊断复杂性先天性心脏病应采用顺序节段分析法,按照心房、心室和大动脉等三个节段进行检测,以及分析心房-心室连接和心室-大动脉连接,才能对复杂性先心病作出全面的诊断.     

Diagnosis and management of critical congenital heart defects in infants

Congenital heart defects (CHD) are the most common congenital anomaly with an incidence of around 8–10 per 1000 live born infants. Up to a third of all the CHDs are of a critical type. A critical CHD is fatal within 28 days of birth unless there is cardiac surgery or catheter intervention. Advances in diagnosis, pre-operative intensive care, cardiac surgery techniques, catheter interventions and post-operative management, have made it possible to save most of these infants with excellent long-term outcomes. Prompt recognition is essential as delayed diagnosis of critical CHD is associated with higher mortality and morbidity. Accurate, timely diagnosis allows healthcare professionals to institute timely and specific therapy. Although echocardiography is required to precisely delineate the anatomical abnormality, with a good understanding of the cardiovascular physiology it is usually possible to define the haemodynamic abnormality based upon the clinical examination, pulse oximetry, blood gas and radiographic findings. This short article outlines how these findings can be used to guide clinicians in anticipation of diagnostic echocardiography and/or cardiac catheterization. It outlines the principles for establishing a diagnosis and offers guidance on how to initiate immediate management and stabilization of affected babies.     

超声心动图评估先天性左侧膈疝新生儿预后的价值

目的探讨超声心动图评估左侧先天性膈疝(CDH)新生儿预后的价值。方法以2015年1月—2018年1月出生的左侧CDH新生儿为研究对象,回顾其一般情况及超声心动图资料,并按其生后30天是否存活分为存活组、死亡组,进行比较分析。结果共纳入65例左侧CDH新生儿,存活组48例、死亡组17例。两组患儿胎龄及出生体质量、动脉导管持续右向左分流的比例、三尖瓣跨瓣压差、右肺动脉(RPA)及左室收缩末期(LVDd)内径差异均有统计学意义(P0.05)。多元logistic回归分析发现,三尖瓣跨瓣压差及LVDd为不良预后的独立预测因子(P0.05)。结论超声心动图在评估左侧CDH新生儿的临床预后中有重要价值。     

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??Abstract?? Objective??To study the diagnosis and treatment of neonatal Congenital Hyperinsulinism Hypoglycemia??CHI??. Methods??The clinical data of 15 newborn babies with CHI??who were diagnosed in Beijing Children’s Hospital between 2000 and 2010??were retrospectively reviewed. Results??Sex ratio of boys to girls was 10??4. Time variation in disease onset?? from less than 1 hour after labor to 25 days. ten of 15 patients were large for gestational age?? 8 of them were macrosonias. Convulsion??cyanosis??lethargy??refusing milk sucking??irritability and sweating were common symptoms. The laboratory findings displayed persistent hypoglycemia and hyperinsulinism in all of the 15 newborn babies. There were no urine and blood ketones elevating in all of the 15 newborn babies. Nine infants were treated with oral diazoxide??but only 2 of them showed effectiveness to the therapy. One patient was given subtotal pancreatectomy and the blood glucose level was restored to normal after operation. Two newborn babies died within 2 weeks. Of the other 13 newborn babies??only 3 who were effectively treated had normal intelligence. Nine of them presented mental retardation in a 5-year follow-up. Conclusion??The measurement of blood glucose??blood insulin and urinary ketones is helpful in the diagnosis of persistent hyperinsulinemic hypoglycemia of infancy. Most patients have no response to diazoxide therapy. Whenever drug treatment is comfirmed unresponsive??operation should be considered.     

新生儿先天性梅毒诊断准确性的回顾性分析

目的探讨制定统一先天性梅毒(CS)诊断标准的必要性。方法回顾分析2016年1月—2020年2月因母亲梅毒感染而入院的85例新生儿的临床资料,分别采用性传播疾病管理指南(2015)/2015美国儿科学会感染委员会报告(美国指南)、2014年欧洲梅毒管理指南(欧洲指南)和2015年版预防艾滋病、梅毒和乙肝母婴传播工作实施方案(中国方案)进行评估诊断,比较上述三种标准诊断CS的一致性。结果将确诊/高度疑似或疑似病例归入CS,美国指南共诊断32例,欧洲指南诊断40例,中国方案诊断15例,三个标准共诊断40例,其中三个标准均符合者14例。美国指南和中国方案诊断病例均包含于欧洲指南诊断病例,美国指南和中国方案诊断病例重复例数为14例。10例梅毒螺旋体(Tp)试验阳性+长骨X线异常患儿中,7例因母亲孕前或孕期接受规范治疗未被美国指南诊断,其余仅3例因母孕期不规范治疗而被美国指南诊断,10例均未被中国方案诊断。Tp试验阳性+Tp-IgM阳性1例未被美国指南诊断,但均被其他两个标准所诊断。Tp试验阳性+其他指标阴性且母孕期不规范治疗15例未被中国方案诊断,但均被其他两个标准诊断。美国指南与欧洲指南、美国指南和中国方案一致性较强,加权κ值分别为0.611和0.705,而欧洲指南与中国方案一致性一般,加权κ值仅为0.304。结论临床上制定统一的CS诊断标准非常必要。