Comparison of prenatal ultrasound and postmortem findings in fetuses and infants with congenital heart defects.

OBJECTIVE: Detection of congenital heart defects by prenatal ultrasound examination has been one of the great challenges since the investigation for fetal anomalies became part of the routine fetal examination. This prospective study was designed to evaluate the concordance of prenatal ultrasound findings with autopsy examination in a population consisting of both referred women and non-selected pregnant women. DESIGN: Criteria for inclusion were an ultrasound examination at the National Center for Fetal Medicine and an autopsy performed during the years 1985-94. Results from the ultrasound and autopsy examinations were systematized into categories depending on the degree of concordance. RESULTS: Of 408 infants and fetuses with developmental anomalies, 106 (26%) had congenital heart defects. In 63 (59%) of these 106 cases, the heart defect was the principal reason for the termination of pregnancy or the cause of death. Excluding five cases with a secundum atrial septal defect, there was complete agreement between the ultrasound examination and the autopsy findings in 74 (73%) of 101 cases. In 18 cases, there were minor discrepancies between ultrasound and autopsy findings. The main diagnosis was thus correct in 92 cases (91%). From the first time period (1985-89) to the second (1990-94), the detection rate of all heart defects increased from 48% to 82%. CONCLUSION: This study confirms a good correlation between ultrasound and autopsy diagnoses in fetuses and infants with congenital heart defects. A significant improvement in the detection of heart defects occurred from the first time period to the second and was probably due to increased experience and technical advances.     

Women with congenital heart disease: long-term outcomes after pregnancy

Background

Pregnancy in women with congenital cardiac disease is more frequent due to an increased lifespan and improved health situations. However, the long-term outcomes in these women are not known.

Methods

We analysed 267 consecutive pregnant women with congenital heart defects who were seen at the German Heart Centre Berlin. This retrospective study included analysis of long-term follow-up data after pregnancy and standard maternal cardiac, obstetric and neonatal outcomes. The long-term data (n = 103) were acquired with a self-assessment questionnaire from each patient. The main primary outcomes of the study included functional class, health, work capability and physical activity.

Results

The median age of the patients at delivery was 27 years (range 17–43 years). The median follow-up of all patients was 11 years (range 1–49 years). Twenty-four percent exhibited complex cardiac defects. Primary long-term outcomes included good health in 61 % of the patients. Approximately 68 % worked, and 76 % engaged in physical activity. Thirty-three percent of the women who answered the questionnaire demonstrated a decrease in functional class during pregnancy, but more than two-thirds of these patients subsequently improved. Secondary short-term outcomes included a 4 % miscarriage rate and a 4 % induced abortion rate. The maternal cardiac data revealed that 30 % of the patients lost at least one functional class during pregnancy. Onset arrhythmias were observed in 12 % of the patients. The most prevalent neonatal complication was premature birth, which was present in 12 % of the neonates.

Conclusion

Two-thirds of the patients tolerated pregnancy without cardiovascular complications. Most patients displayed good long-term health, work capability and physical activity outcomes. Further prospective controlled studies are necessary to confirm these results and safely advise pregnant women.     

X线胸片诊断常见先天性心脏病

20世纪70年代以来,随着超声、CT、MRI广泛应用于临床检查,医学影像学的诊断技术发生了巨大变化,但迄今X线胸片仍作为简便、易行、有效的检查方法而广泛应用,包括在心血管疾病的诊断方面. X线胸部平片(胸片)能显示心脏整体及各房室、大血管的大小、形态和位置的变化及其程度,结合透视还可观察心脏、大血管的搏动等运动功能状态,同时可以反映继发于心血管疾患的肺循环障碍,如肺动、静脉高压的改变和程度,为诊断和评估预后提供重要的依据,在这方面是目前任何其他医学影像学手段都无法替代的检查方法.由于检查方法已规范化,胸片还被用为心血管病外科诊断和手术治疗前后的随诊观察方法.     

Hematological characteristics in blood autoanalysis in children with congenital heart defects

Hematological status of infants with congenital heart disease (CHD) was evaluated by automated systems. Blood analyses were carried out in 40 infants with the pale type and in 20 with the blue type CHD. Increased erythrocyte count and hematocrit were detected in the blue type CHD. Evaluation of the leukocytic formula showed correlation of the results of automated analysis and microscopic analysis of a blood smear. Automated method is preferable for estimating platelet count. Platelet count was decreased and the cells were larger in patients with the blue type disease in comparison with the pale type group. Hence, automated analyzer gives a wide spectrum of blood values with high accuracy and productivity and helps evaluate hemopoiesis in patients with CHD.     

Immune response to allograft implantation in children with congenital heart defects

Cryopreserved valved allografts are frequently used in the repair of congenital heart defects in children. Although the longevity of these grafts is generally good in most patients, there continue to be ongoing problems with allograft dysfunction and subsequent failure, particularly in infants and young children. The aim of this review is to discuss the immunogenicity of cryopreserved allograft tissue and measures that may minimize the deleterious effect of the immune system on allograft function and durability.     

Immune response to allograft implantation in children with congenital heart defects

Cryopreserved valved allografts are frequently used in the repair of congenital heart defects in children. Although the longevity of these grafts is generally good in most patients, there continue to be ongoing problems with allograft dysfunction and subsequent failure, particularly in infants and young children. The aim of this review is to discuss the immunogenicity of cryopreserved allograft tissue and measures that may minimize the deleterious effect of the immune system on allograft function and durability.     

Hemorheology and morphofunctional characteristics of blood cells in children with congenital heart defects

Patients with congenital heart diseases (CHD) aged 4 months to 12 years, hospitalized for surgical treatment, were examined. Complex viscosity of the blood and the constituents of this parameter (dynamic viscosity and elastic component) were evaluated in the range of shift strain corresponding to the range of shift velocities 0.37-500 s-1 at a frequency of 2 Hz. The threshold blood fluidity was estimated for evaluating the conditions under which erythrocyte disaggregation begins. The relationship between blood rheology and morphofunctional characteristics of blood cells was evaluated. In accordance with the findings, the patients were divided into 3 groups with different suspension stability of the blood. In group 1 the threshold fluidity approximated the norm. In group 2 with normal blood rheology the shifts were compensated and regulation of rheology was in general intact. In group 3 the hematocrit values, mean erythrocyte volume, mean concentration of hemoglobin in erythrocyte, leukocyte counts, and complex viscosity of the blood were the highest, while the suspension stability was the lowest, which indicates depletion of the adaptive potential of the organism. Hence, blood rheology in patients with CHD differs by the type of regulation, mechanisms and compensation of changes, and depend largely on the mean erythrocyte volume, mean hemoglobin concentration in erythrocytes, and leukocyte counts.     

Four-year experience with prenatal diagnosis of congenital heart defects at a single referral center in Japan with focus on inaccurately diagnosed cases

Purpose

To evaluate the accuracy of prenatal diagnosis of congenital heart defect at the referral level in our institution.

Methods

One hundred and thirty-two cases were referred for prenatal diagnosis of congenital heart defect (CHD). Cases having CHDs were divided into isolated and complex CHDs, and the prenatal and postnatal diagnoses were compared.

Results

Thirty-nine cases were diagnosed with CHDs. The remaining 93 cases were diagnosed as normal. Postnatal diagnosis confirmed that 39 cases had CHDs; there were 19 cases of isolated CHD and 20 cases of complex CHD. Among the 19 cases of isolated CHD, all four cases with a false negative diagnosis had ventricular septal defects of an outlet or muscular type with a small defect. Cases with a false positive diagnosis had coarctation of the aorta (3 cases) or total anomalous pulmonary venous connection (1 case). Among the 20 cases of complex CHD, the prenatal diagnoses in two cases were not the same as the postnatal diagnosis and the prognosis was worse than expected. In one case with a single ventricle, pulmonary stenosis, and pulmonary venous atresia, the prenatal diagnosis was hypoplastic left heart syndrome with a suboptimal study at 38?weeks’ gestation. In the other case, the diagnosis of corrected transposition of the great arteries had been missed because of misinterpretation of the anatomically right and left ventricles in utero.

Conclusions

There were three possible causes of misdiagnosis or overdiagnosis of CHD: disease orientation, timing of diagnosis, and skill of the examiners. This information may be helpful for the improvement of diagnosis.     

荧光原位杂交技术在先天性心脏病产前诊断中的应用

目的探讨采用荧光原位杂交技术(FISH)检查法对先天性心脏病胎儿进行染色体22q11微缺失产前诊断的临床应用。方法应用常规染色体核型分析及FISH检查法,对2012年3月至2014年10月中山市博爱医院收治的52例疑似妊娠22q11微缺失胎儿的孕妇进行产前22q11微缺失检查并跟踪随访。结果所有胎儿染色体核型分析均无异常,FISH检查结果显示3例呈阳性。结论染色体核型分析无法检测22q11微缺失综合征,因此对有22q11微缺失先天性心脏病风险的胎儿产前诊断应用FISH检查法,可提高检测的准确性。     

产前超声诊断胎儿先天性心脏畸形与染色体异常的关系

目的 应用超声探讨胎儿先天性心脏畸形与染色体异常的关系.方法 回顾分析我院产前超声检查发现先天性心脏畸形,并行染色体检查的胎儿58例.结果 58例先天性心脏畸形胎儿中复杂畸形39例（67.2%）,心内畸形合并心外畸形26例（44.8% ）;染色体异常16例（27.6%）,其中18 -三体综合征9例,21 -三体综合征4例,13 -三体综合征2例,47,XX,＋8[16]／46,XX[44] 1例.结论 不同类型的胎儿先天性心脏畸形与染色体异常的关系不同;当产前超声发现胎儿先天性心脏畸形时,应仔细观察胎儿全身有无畸形及超声软标志,必要时行染色体检查以明确核型.     

小儿先天性心脏病伴气管狭窄的影像学诊断

目的探讨小儿先天性心脏病(先心病)伴气管狭窄的发病情况、病理分型、诊断技术与影像学表现。方法25例先天性心脏病伴气管狭窄的患儿进行影像学检查。本组所有患儿均摄片检查,21例患儿行胸部螺旋CT气管三维重建,5例患儿行气管造影,以明确气管狭窄的部位及程度。结果全部先天性心脏病患儿均伴有不同程度的气管狭窄,其中伴发右上气管性支气管5例。结论小儿先天性心脏病伴气管狭窄应引起临床重视,及早明确诊断,指导治疗及预后。目前胸部螺旋CT气管三维重建是明确气管狭窄的部位及程度的最佳无创性手段。     

Short-term outcome of isolated and associated congenital heart defects in relation to antenatal ultrasound screening.

OBJECTIVE: To investigate the outcome of fetuses affected by congenital heart defects (CHD), either detected or undetected at ultrasound screening, according to their complexity and severity. DESIGN: The study group comprised 3633 malformed fetuses entered into the Eurofetus database of which 798 had CHD. We compared the short-term outcome in cases where a CHD was detected by ultrasound screening with that in cases where a CHD was not detected. Isolated and associated CHD (ICHD and ACHD) and the degree of severity of defects were considered separately. Outcome data included termination of pregnancy (TOP), intrauterine fetal death, neonatal death (< 6 days after birth), gestational age at diagnosis and at delivery, mode of delivery and birth weight. RESULTS: Of the 798 fetuses with CHD, 595 had ICHD and 203 had ACHD. The diagnosis of an anomaly was made significantly earlier in ACHD cases. TOP was chosen in 28% of cases with a prenatal diagnosis of CHD, 20% for ICHD and 37% for ACHD (P < 0.001). The survival rate of antenatally diagnosed fetuses was lower in those with ACHD than in those with ICHD (P < 0.001) and lower for fetuses with antenatal diagnosis than with postnatal diagnosis (P < 0.001); this was due to significant differences in the complexity and severity of the defect. Premature delivery (< 32 weeks) was more frequent in fetuses in which an antenatal diagnosis of CHD had been made. Severe CHD were diagnosed earlier and were associated with a higher rate of TOP and spontaneous loss. CONCLUSIONS: The severity of CHD has a positive influence on the sensitivity of screening but a negative influence on the outcome. CHD that are not diagnosed antenatally include a high proportion of benign malformations. This explains the apparent paradox of a poorer outcome in fetuses in which a CHD was detected prenatally compared to those fetuses in which the defect was undetected prenatally. However, prenatal diagnosis provides parents with the option of TOP or of preventive care in specialized centers.     

产前超声诊断胎儿先天性心脏病的征象或线索

目的 探讨胎儿先天性心脏病的产前超声表现。方法 对4501名孕妇(均为单胎妊娠)进行系统胎儿超声检查,采用四腔心切面头侧偏转法筛查胎儿心脏畸形,观察心脏位置、心尖指向、心房及心室大小、瓣膜启闭情况、大动脉起源、大动脉交叉关系及内径、血管数目、内部血流情况等。结果 4501胎受检胎儿中,先天性心脏病29胎,产前超声检出26胎,其中心脏位置异常或心尖指向异常1胎,双侧心房和(或)心室大小不对称13胎,大动脉交叉关系消失2胎,大动脉内径异常4胎,血管数目异常3胎,相对气管位置关系异常1胎,血流性质异常17胎。结论 心脏位置异常、心尖指向异常、双侧心房和(或)心室大小不对称、大动脉交叉关系消失、内径异常、数目异常及相对气管位置关系异常、内部血流异常均是产前超声诊断胎儿先天性心脏病的征象或线索。     

Acquired von Willebrand syndrome in two children with congenital heart defects and abnormal haemodynamics

Acquired von Willebrand syndrome is a rare bleeding disorder associated with other primary diseases such as cardiovascular disorders which can cause severe haemorrhage during surgery or interventional procedures. It should be suspected if there is no history of bleeding and abnormal von Willebrand factor (VWF) values in patients with predisposing disorders. We present two children with congenital heart defects and no personal or family history of bleeding. In these patients we preoperative diagnosed acquired von Willebrand syndrome with coagulation tests including analysis of the VWF multimeric pattern.