医学人工智能在胎儿超声心动图中的应用前景

医学人工智能技术（artificial intelligence,AI）作为一项新兴技术,正在医学影像领域快速发展。AI技术在超声心动图中的应用总体处于初级阶段,部分超声系统自动化软件可初步实现图像的识别、自动化提取及标准化测量,如左心室射血分数及瓣膜功能等。胎儿心脏解剖结构的特殊性、不自主运动、胎儿体位变化及超声医师专业能力差异增加了胎儿心脏检查的难度,借助AI技术将优化胎儿超声心动图的临床应用。胎儿心脏疾病分类、分期及预后评估将是AI技术的未来发展方向。     

多普勒超声心动图对胎儿心脏血流动力学的研究进展

随着多普普勒超声技术的发展，多普勒超声心动图越工多地应用于对胎儿心脏血流动力不的检测。近几年来，检测的重点多为母亲疾病状态下的胎儿，母亲用药，胎儿宫内发育迟缓及胎儿贫血的胎心功能变化。与正常胎儿对照：糖尿病母亲胎儿心脏的室间隔显著增厚，影响了心脏的舒张功能，母亲用为痛时可使胎儿心导管收缩，而使用小剂量阿斯匹林和抗高血压对胎儿心功能影响不磊。在ＩＵＧＲ胎儿中，左心室输出量相对增加，而右心室的相对减少     

妊娠早中期胎儿超声心动图诊断先天性心脏病的临床价值

胎儿超声心动图检查是先天性心脏病产前诊断的最有效方法.妊娠早中期胎儿超声心动图筛查先天性心脏病的敏感性及特异性均较高,有序的分段多切面检查是保证诊断准确性的关键.由产科医生、超声科医生、小儿心脏科医生参与的多学科合作可改善胎儿预后,指导孕妇对妊娠过程进行正确的决策,对胎儿进行必要、合理的干预,对降低新生儿出生缺陷具有重要意义.     

胎儿超声心动图检查对胎儿心律失常和心脏结构异常的诊断价值

目的 探讨超声心动图检测对胎儿心律失常的诊断价值及临床意义,研究胎儿心律失常与心脏结构异常的相关性.方法 总结分析6 500例具有先天性心血管畸形高危因素或院外疑有胎儿心脏结构异常及心律失常的孕妇的胎儿超声心动图资料.结果 妊娠16～41周的6 500例孕妇中,检出或疑有各类胎儿心脏结构异常338例,检出率5.2%,检出各类胎儿心律失常396例,检出率6.1%.其中13例既有心脏结构异常,又有心律失常.胎儿缓慢性心律失常伴发心脏结构异常比例高于其他类型心律失常,复杂心血管畸形较单纯心血管畸形伴发胎儿心律失常比率高.结论 胎儿超声心动图是产前检查胎儿心律失常及心脏结构异常可靠的无创性影像技术,对胎儿期心血管异常的筛查及诊断具有重要的临床意义.     

先天性心脏病的产前超声心动图诊断

应用胎儿超声心动图方法产前诊断先天性心脏病（先心病）是近年来先心病诊断的重要进展之一。胎儿心脏的超声征像与出生后的表现不尽相同。胎儿先心病的超声诊断标准除少数病种外大致与新生儿者相似。临床报道应用胎儿超声心动图产前诊断的先心病有室间隔缺损、房室隔缺损、单心室、爱毂斯坦畸形、左心发育不良、右心发育不良、四联症及其他复杂心脏畸形，均有较高的诊断敏感度及特异性。容易遗漏或误诊的有房间隔缺损，小型室间隔缺     

围产期心脏超声诊断胎儿三尖瓣返流的临床意义

应用多普勒超声心动图研究胎儿三尖瓣返流（ＴＲ）的围产期产生机制及其临床意义。对６５６例孕周为２０周～３７周胎儿进行多普勒超声心动图检查,检出ＴＲ８８例,其中胎儿先心病组１６例,心律失常组４３例,双胎输血片７例,母亲患糖尿病者２例,而正常胎儿５８８例中仅发现ＴＲ３３例（占５．６２％）。结果表明,胎儿时期右室占优势使右室处于高压腔状态,故正常胎儿的ＴＲ发生率极低,且多属生理性范围。因此,多普勒超声检出     

胎儿先天性心脏病的超声诊断及临床干预

随着胎儿超声心动图技术的发展,90%～95%的先天性心脏病可以在产前获得早期诊断;同时,先天性心脏病的治疗也已经发展到了产前阶段,胎儿心脏介入治疗在临床应用方面取得了一定效果,并展现了发展前景。     

胎儿心脏结构异常的超声诊断研究

目的：探讨超声心动图检测胎儿心脏结构异常的诊断价值及临床意义。方法：总结分析我院9 352 例胎儿超声心动图资料。结果：检出472例胎儿心脏结构异常,其中室间隔缺损97例,房室共同通道53例,房间隔缺损49例,法洛四联症26例,永存动脉干21例,三尖瓣下移畸形20例,其他类型心脏结构异常206例。其中17例伴有胎儿心律失常。初次胎儿超声心动图检查发现伴有胎儿心力衰竭9例、胎儿水肿5例。结论：胎儿超声心动图的应用有助于早期检出心脏结构异常并指导患胎的处理。胎儿超声心动图对胎儿先天性心血管畸形准确的诊断及评价是胎儿心脏宫内干预和监测的基础。［中国当代儿科杂志,2010,12（2）：99-102］     

多普勒超声心动图对胎儿心脏血流动力学的研究进展

随着多普勒超声技术的发展，多普勒超声心动图越来越多地应用于对胎儿心脏血流动力学的检测。近几年来，检测的重点多为母亲疾病状态下的胎儿、母亲用药、胎儿宫内发育迟缓（ＩＵＧＲ）及胎儿贫血的胎心功能变化。与正常胎儿对照：糖尿病母亲胎儿心脏的室间隔显著增厚，影响了心脏的舒张功能。母亲用消炎痛时可使胎儿心导管收缩，而使用小剂量阿斯匹林和抗高血压对胎儿心功能影响不大。在ＩＵＧＲ胎儿中，左心室输出量相对增加，而右心室的相对减少。贫血胎儿在输血前的左、右心输出量及Ｅ／Ａ比明显增加，而输血后降为正常。另外，检测胎儿心功能可受到胎儿呼吸样运动、心率、胎动、多普勒角度等的影响。     

分型不明的婴幼儿糖尿病病因学探讨

目的探讨分型不明的婴幼儿糖尿病的病因。方法回顾分析2013年-2016年收治,3岁内起病的自身抗体阴性胰岛素依赖1型糖尿病(T1DM)患儿的临床资料。结果共收集19例患儿,男12例、女7例,起病年龄8个月～3岁;主要症状为乏力、消瘦、多饮、多尿;糖化血红蛋白8.6%～12%,合并酮症酸中毒14例;19例患儿的胰岛细胞抗体(ICA)、谷氨酸脱羧酶抗体(GAD65-Ab)、胰岛素抗体(IAA)均为阴性,胰岛素水平正常偏低。采用二代测序及甲基化MLPA方法检测28个糖尿病相关基因,2例患儿阳性;其中1例携带HNF1A c.1699GA,为已报道的杂合突变,来自其血糖正常的母亲;另1例携带CEL基因的c.2214delT,为尚未见报道的杂合突变,来自其空腹血糖正常的父亲。结论自身抗体阴性T1DM与单基因糖尿病之间存在交叉与重叠,二代测序对早期明确诊断有重要意义。     

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。     

New developments in fetal heart scanning: three- and four-dimensional fetal echocardiography

This article reviews the possibilities of three- and four-dimensional (3- and 4D) fetal echocardiography. A volume data set of a fetal heart can be acquired as a static volume, as a real-time 3D volume or as an offline 4D volume cine using spatial and temporal image correlation (STIC) software. STIC is explained and the potentials of this modality are emphasized. The display of a fetal heart volume data set demonstrates the cross-sections of interest, using the multiplanar mode or tomographic multislice imaging, and different volume rendering tools. The latter include: surface, minimum, inversion and glass body modes. This review highlights the potential of acquiring a digital volume data set of a heart cycle for later offline evaluation, either for an offline diagnosis, a second opinion (e.g. via Internet link) or for teaching fetal echocardiography to trainees and sonographers.     

Delayed emergence of fetal behaviour in type-1 diabetic women

In pregnancies complicated by maternal type-1 diabetes early fetal growth delay is common and it is suggested that there might be a common mechanism behind this growth delay and the induction of abnormal embryogenesis. As some of the most frequent congenital malformations involve the nervous system, the following study was performed in order to determine whether there is a specific delay in development of neural activity in these embryos and fetuses. In ten women with type-1 diabetes the emergence of specific fetal movement patterns, which are an expression of the functional motor development of the nervous system, was studied weekly by 1 h real-time ultrasound observations, starting at or before 8 weeks of gestation. Data were compared with those obtained in uncomplicated pregnancies. In all women a tight metabolic control was achieved with continuous subcutaneous insulin infusion. In six patients this treatment was started before conception. In all but one of the movement patterns emerging in the first 12 weeks of gestation a delay of 1-2 weeks was found in their first appearance. Only breathing movements were observed for the first time at the same gestational age as in the control group. Plotted according to crown-rump length the emergence of fetal movement patterns occurred, however, almost at the same time as in the control group. It is concluded, that in well controlled diabetic pregnancy there is a delay in functional motor development of the embryonic and fetal nervous system; this delay is not very specific but mostly parallels that of growth; breathing movements emerge relatively early as compared to growth.     

Outcome of fetal echocardiography: A 17 year single‐institution experience in Japan

Background: The aim of this retrospective study was to evaluate the influence of prenatal diagnosis on perinatal outcomes of congenital heart disease (CHD) over a 17 year period at a single center. Methods: The perinatal outcome of CHD in 146 patients diagnosed on fetal echocardiography between 1994 and 2010 were reviewed. The characteristics of 193 neonatal inpatients with CHD treated at the authors’ department between 2001 and 2010 were also analyzed; among the inpatients, 61 were diagnosed before birth (prenatal group) and 132 were diagnosed after birth (postnatal group). Results: Among the 146 patients prenatally diagnosed with CHD, the prenatal mortality, including abortion and stillbirth, decreased from 1994 to 2010. Among the 193 neonatal inpatients, the prenatal group had lower gestational age and bodyweight than the postnatal group. Further, the prenatal group had lower blood pH at admission, but no patient in that group experienced ductal shock, although six patients in the postnatal group did. The average dose of prostaglandin E1 used in duct‐dependent CHD was significantly lower in the prenatal group than in the postnatal group (3.4 vs. 4.6 ng/kg per min; P = 0.015). Conclusions: Prenatal diagnosis of CHD enables planned labor, prevents ductal shock, and reduces prostaglandin E1 side‐effects and medical expenditure.     

Insulin deficiency: Effects on fetal growth and development

Insulin deficiency in either the mother or foetus has significant effects on fetal growth and development. In the human, maternal insulin deficiency, or diabetes mellitus, leads to macrosomia and increased adiposity of the foetus, while specific fetal hypo-insulinaemia is associated with intra-uterine growth retardation. When maternal diabetes is induced in experimental animals, no consistent increases in fetal bodyweight are observed although the body fat content of the foetus is increased in the majority of species studied. The magnitude of the fetal weight gain during maternal diabetes appears to be determined by the body fat content of the foetus, the severity and duration of the diabetes and by the temporal pattern of maternal hyperglycaemia observed during pregnancy. The latter factors, in particular, influence the level of insulin in the foetus which, in turn, regulates the rate of intra-uterine growth. By contrast, fetal insulin deficiency has a more uniform effect on fetal growth and leads to impaired growth in both experimental and naturally occurring hypo-insulinaemic conditions. Fetal insulin deficiency reduces fetal growth by decreasing nutrient uptake and utilization of the fetal tissues and by altering the circulating concentrations of the insulin-like growth factors. Consequently, deficiencies in either fetal or maternal insulin secretion during pregnancy can alter fetal growth and have important consequences for perinatal survival and postnatal morbidity.     

Increased satisfaction of maternity hospital staff involved in fetal telediagnosis

Questionnaires were sent to 14 maternity hospital staff members for qualitative assessment at the start of fetal telediagnosis and at the end of the study using a five‐point Likert scale: 5, I strongly think so; 4, I think so; 3, I can't decide; 2, I don't think so; 1, I never think so. Ten questionnaires were returned to us (71%). The results showed that the staff reported a significant increase in confidence in performing fetal cardiac screening (score 2.3 at start, 3.4 at study completion; P = 0.034), the rate of score increase rose with the number of telediagnoses (r = 0.72, P < 0.05), feedback from a specialist was very useful (4.4 and 4.9, respectively), and real‐time image transmission was preferred over recorded images (score 3.7 vs 2.4, respectively; P = 0.042). The excellent educational effect of telemedicine is useful for staff members to improve their skills while nurturing their motivation, leading to the promotion of fetal cardiac screening in regional areas.     

Unusual evolution of a pericardial mass diagnosed by fetal echocardiography

Summary An intrapericardial mass with a pericardial effusion was diagnosed by ultrasound examination in the fetus of a 29-year-old gravida 1 para 0 woman at 32 week's gestation. Serial in utero examinations showed disappearance of the pericardial effusion at 35.5 week's gestation, while the mass remained unchanged. Vaginal delivery ensued at 39 weeks. Clinical and echocardiographic examination of the newborn revealed normal cardiac anatomy with no abnormal mass or pericardial effusion. Follow-up examinations confirmed these normal data.     

HIT 2000 方案治疗3 岁以下儿童髓母细胞瘤疗效分析

目的评价分析3岁儿童髓母细胞瘤HIT 2000 方案的治疗效果及预后。方法回顾分析采用HIT 2000 方案治疗的3岁髓母细胞瘤患儿的临床资料。结果共纳入38 例3岁髓母细胞瘤患儿,完全缓解8 例、部分缓解5 例、疾病稳定6 例、疾病进展或复发19 例。5 年无事件生存率、总体生存率分别为(43.9±8.8)%、(49.5±9.1)%;M0组和M+组,DMB/MBEN组和CMB、LC/A 组,SHH组和G4组之间3 年或5 年无事件生存率和总体生存率差异均有统计学意义(P 均 0.05);而R0组和R+ 组、放疗组和未放疗组之间的5 年无事件生存率和总体生存率差异均无统计学意义(P 均0.05)。13 例患儿行放疗,放疗期间均未出现放射性脑坏死及继发第二肿瘤,1 例出现放射性肺损伤。所有患儿均化疗,化疗期间均出现不同程度的骨髓抑制,肝功能损害3 例,口腔黏膜溃疡5 例,经对症处理后预后良好。没有患儿因放、化疗而死亡。结论 HIT2000 方案治疗3 岁以下儿童MB疗效较好,疾病预后与M分期、病理分型及分子分型有关,化疗耐受可,可作为3 岁以下儿童MB治疗方案之一。