The accuracy of antenatal fetal echocardiography screening in high- and low-risk patients

Objective: The purpose of this study was to evaluate the accuracy of four-chamber and left ventricular outflow tract views in low-risk patients and comprehensive fetal echocardiographic examinations in high-risk patients to diagnose structural heart disease or thoracic anomalies.Study design: A prospective outcome study of two cohorts was performed; 1136 low-risk patients and 886 high-risk patients were evaluated during a 2-year period. Low-risk patients had detailed fetal echocardiographic examinations. Accuracy of the ultrasonographic diagnosis was evaluated from neonatal discharge data.Results: Only 2 of 14 patients with congenital heart disease in the low-risk group were correctly identified (sensitivity 14.3%) whereas 10 of 16 patients with congenital heart disease or thoracic anomalies were correctly identified in the high-risk group (sensitivity 62.5%).Conclusion: The current study showed poor diagnostic accuracy of the standard four-chamber and left ventricular outflow tract views in low-risk patients for the diagnosis of structural cardiac anomalies. Patients with risk factors for congenital heart disease should be referred for comprehensive fetal echocardiographic examination.     

Routine screening with fetal echocardiography for prenatal diagnosis of congenital heart disease

Congenital cardiac anomalies are the most common congenital anomalies, occurring in approximately eight of 1000 live births. Proper perinatal and neonatal management is dependent upon accurate prenatal diagnosis. Approximately 10% of fetuses with cardiac abnormalities have identified risk factors; hence, most of the anomalies occur in pregnancies without prenatal risk factors. The application of detailed fetal echocardiography for prenatal screening, at present reserved mainly for high-risk cases, requires further evaluation before being recommended for the general population.

This article presents our experience of evaluating the accuracy of fetal echocardiography as a screening method in detecting cardiac anomalies in the general population of Singapore. We reviewed data from 39 808 pregnant women who received antenatal care at the National University Hospital, Singapore, between January 1986 and December 1994, and who underwent routine fetal echocardiography at 21-22 weeks of gestation. We identified 294 cases of congenital heart defects by fetal echocardiography. We obtained a sensitivity of 85.4% for the detection of congenital heart disease, and a specificity of 99.9% to rule out such anomalies. Our positive and negative predictive rates were 87.7% and 99.9%, respectively.

We recommend routine screening by echocardiography of all pregnancies at 21-22 weeks of gestation, irrespective of risk stratifcation, for the prenatal detection of cardiac anomalies, in order to improve perinatal management.     

心脏轴测定在胎儿先天性心脏病产前超声诊断中的临床意义

目的探讨超声心动图测定心脏轴变化在胎儿先天性心脏病（先心病）产前诊断中的临床意义。方法应用Ａｃｕｓｏｎ１２８×Ｐ／１０彩色多普勒超声诊断仪检查５１８例胎龄１８～４０周的先心病高危胎儿和９０例正常胎儿,在心脏超声四腔观基础上测定胎儿心脏轴,并从多切面观察胎儿心内结构,以确定胎儿有无先心病。结果正常胎儿心脏轴为（４４．８±１０．３）度,先心病胎儿心脏轴为（５８．１±１５．７）度,两者比较,差异有显著性（Ｐ＜０．０１）。单纯四腔观检测胎儿先心病的敏感性为６８．５％,应用心脏超声四腔观加心脏轴测定检测胎儿先心病的敏感性为９１．４％,两者比较,差异有显著性（Ｐ＜０．０５）;５１８例先心病高危胎儿中,产前超声正确诊断先心病３４例,假阳性１例,假阴性１例。结论正常胎儿心脏轴范围２０～７５度,如心脏轴＞７５度,应高度怀疑胎儿先心病;心脏轴测定在胎儿先心病筛查中具有重要作用,可作为一种常规测量指标。     

Four-dimensional ultrasonography of the fetal heart with spatiotemporal image correlation

OBJECTIVE: This study was undertaken to describe a new technique for the examination of the fetal heart using four-dimensional ultrasonography with spatiotemporal image correlation (STIC). STUDY DESIGN: Volume data sets of the fetal heart were acquired with a new cardiac gating technique (STIC), which uses automated transverse and longitudinal sweeps of the anterior chest wall. These volumes were obtained from 69 fetuses: 35 normal, 16 with congenital anomalies not affecting the cardiovascular system, and 18 with cardiac abnormalities. Dynamic multiplanar slicing and surface rendering of cardiac structures were performed. To illustrate the STIC technique, two representative volumes from a normal fetus were compared with volumes obtained from fetuses with the following congenital heart anomalies: atrioventricular septal defect, tricuspid stenosis, tricuspid atresia, and interrupted inferior vena cava with abnormal venous drainage. RESULTS: Volume datasets obtained with a transverse sweep were utilized to demonstrate the cardiac chambers, moderator band, interatrial and interventricular septae, atrioventricular valves, pulmonary veins, and outflow tracts. With the use of a reference dot to navigate the four-chamber view, intracardiac structures could be simultaneously studied in three orthogonal planes. The same volume dataset was used for surface rendering of the atrioventricular valves. The aortic and ductal arches were best visualized when the original plane of acquisition was sagittal. Volumes could be interactively manipulated to simultaneously visualize both outflow tracts, in addition to the aortic and ductal arches. Novel views of specific structures were generated. For example, the location and extent of a ventricular septal defect was imaged in a sagittal view of the interventricular septum. Furthermore, surface-rendered images of the atrioventricular valves were employed to distinguish between normal and pathologic conditions. Representative video clips were posted on the Journal's Web site to demonstrate the diagnostic capabilities of this new technique. CONCLUSION: Dynamic multiplanar slicing and surface rendering of the fetal heart are feasible with STIC technology. One good quality volume dataset, obtained from a transverse sweep, can be used to examine the four-chamber view and the outflow tracts. This novel method may assist in the evaluation of fetal cardiac anatomy.     

胎儿先天性心脏病产前超声筛查诊断模式的评价

目的 评价胎儿先天性心脏病产前超声筛查诊断模式.方法 收集2004年2月-2007年5月复旦大学附属妇产科医院产科在孕24周前行产前诊断的11 410例孕妇,应用超声筛查其11 544例胎儿的先天性心脏病发生情况.超声筛查切面包括四腔心切面、流出道切面(包括左室流出道+三血管切面),计算不同切面诊断先天性心脏病的敏感性及特异性,并随访胎儿预后.结果 (1)11 544例胎儿中,筛查出先天性心脏病48例,漏诊6例,先天性心脏病发生率为0.47%(54/11 544).(2)四腔心切面发现胎儿先天性心脏病33例,主要为室间隔缺损18例(其中9例合并锥干异常)、房室瓣膜异常6例及左、右心不对称9例.四腔心切面诊断先天性心脏病的敏感性为61.11%(33/54),特异性为99.98%(11 488/11 490).流出道切面诊断胎儿先天性心脏病15例,包括肺动脉闭锁1例,肺动脉瓣狭窄3例,大血管错位2例,肺动脉狭窄及大血管错位1例,法洛四联症6例,肺动脉狭窄2例.四腔心切面+流出道切面诊断胎儿先天性心脏病的敏感性为B8.89%(48/54),特异性99.98%(11 488/11 490).(3)48例先天性心脏病胎儿中,有11例合并其他器官系统异常,另有11例行羊膜腔穿刺检查胎儿染色体,其中5例为21三体.结论 四腔心切面+流出道切面对胎儿先天性心脏病的产前超声筛查有较高的检出率,此产前超声筛查诊断模式在临床上诊断胎儿先天性心脏病切实可行.     

Intracardiac echogenic focus: no apparent association with structural cardiac abnormality

OBJECTIVE: The aim of our study was to evaluate whether intracardiac echogenic foci (ICEFs) may be associated with increased risk for structural cardiac anomalies in the low-risk population. METHODS: During a 24-month period, 3,744 low-risk patients were prospectively screened for ICEFs by prenatal sonography. The study group was composed of 138 fetuses (3.7%) with ICEF. The control group was composed of 167 fetuses without ICEF. In all fetuses a complete echocardiographic evaluation was performed. RESULTS: Among the 138 fetuses in the study group, 108 (78%) ICEFs were found in the left ventricle, 25 (18%) were found in the right ventricle, and 5 (4%) were found to be bilateral. No statistically significant difference was found between the study and the control group regarding the presence of cardiac anomalies. Only 1 case (0.7%) of pulmonic stenosis was found in the study group, compared to 1 case (0.6%) of bicuspid aortic valve in the control group. CONCLUSIONS: We conclude that ICEFs found in low-risk patients are not associated with a significant increase in the risk of cardiac anomalies.     

Ultrasound screening for fetal major abnormalities at 11-14 weeks

BACKGROUND: This study was planned to evaluate the efficiency of the 11-14 week scan in detecting fetuses with major fetal structural abnormalities. METHODS: Some 1,290 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week after the detection of the fetal viability. The fetal anatomy was examined transabdominally, and in suspected cases transvaginally. Following the scans, the patients were examined in the second or third trimester of pregnancy. Fetal structural abnormalities classified as major and early onset were noted. Isolated choroid plexus cysts, cardiac defects not requiring treatment, mild ventriculomegaly, and mild renal pelviectasis in second trimester were not included. RESULTS: Twenty-four (1.86%) fetuses with various defects were identified, and 17 of these were diagnosed at the 11-14 week scan. The antenatal ultrasound detection rate of the fetuses with major anomalies was 95%, and 70% were detected in the first-trimester assessment. Four cardiac defects associated with genetic syndromes or requiring operation were included (0.31%) in this series. Two of the fetuses with cardiac defects (50%) had an increased nuchal translucency thickness. In this group, none of the fetuses with karyotype anomalies was born alive. CONCLUSIONS: The first-trimester scan is important in routine antenatal care for early detection of fetal defects, and determination of the fetuses at risk of cardiac anomalies and genetic syndromes.     

Learning curve in ultrasonographic screening for selected fetal structural anomalies in early pregnancy

OBJECTIVE: To assess the value of first trimester screening by ultrasonography in detecting structural anomalies of the fetus in a general obstetric population. METHODS: During 1993-1998, 20,465 consecutive pregnant women who resided in a defined geographic area participated in ultrasonographic screening for major malformations. These included anomalies of the central nervous system, urinary tract, abdominal wall, and long bones. Heart anomalies were not expected to be detected. The examinations were offered at 13-14 weeks' gestation as part of routine maternal care and were done by specially trained midwives. The pregnancy outcomes were ascertained from obstetric and pediatric records, and the data were completed by information from the national birth and malformation registries. RESULTS: A total of 307 fetuses (1.5%) with a major malformation were found; 67 fetuses (0.3%) had noncardiac major structural defects expected to be detectable by ultrasonography in early pregnancy. Thirty-five of 67 (52%) were identified at the early scan. Sensitivity for these defects increased from 22% to 79% from the first to the last (sixth) study year (P =.009). CONCLUSION: In a low-risk population, adequate sensitivity in screening for major malformations by early ultrasonography can be achieved after a learning curve of 3-4 years.     

Prenatal diagnostics of congenital heart disease--own results

OBJECTIVES: Congenital heart defects (CHD) are the most common congenital malformation. They are still often overlooked in fetuses during the routine obstetric scanning. DESIGN: The aim of our study was to present our results in detecting CHD in high risk pregnancies. MATERIAL AND METHODS: The echocardiograms of 135 fetuses and case history of neonates who had prenatal diagnosis of CHD were revied retrospectively. RESULTS: We diagnosed CHD in 135 fetuses. The most common CHD were: atrio-ventricular canal (32 fetuses-23,7%), hypoplastic left heart syndrome (17 fetuses--12.6%), ventricular septal defect (11 fetuses--8.2%), and aortic stenosis (10 fetuses--7.4%). There were 15 intrauterine deaths (11.1%) and 8 neonatal deaths. CONCLUSIONS: Prenatal echocardiography enables early detecting and adequate treatment of congenital heart defects.     

Two-stage ultrasonography in screening for fetal anomalies at 13-14 and 18-22 weeks of gestation

BACKGROUND: The aim of this study was to assess the value of two-stage screening by ultrasonography in detecting selected major fetal anomalies in a low-risk obstetric population. METHODS: In a defined geographic area, 4789 consecutive low-risk pregnant women participated in screening by two-stage ultrasonography as part of routine maternal care. The examinations were usually performed by specially trained midwives at 13-14 and 18-22 weeks of gestation. Of the women, 4073 had both scans, 440 had the early one only, and 276 the late scan only. Pregnancy outcomes were ascertained from obstetric and pediatric records, and the data were supplemented with information from the national birth and malformation registries. RESULTS: Of the 4855 fetuses, 33 (0.7%) had major structural defects considered detectable by ultrasonography. Of these, six (18%) were identified at the early scan, and an additional 10 (30%) at the late scan, yielding a total sensitivity of 48% for the two-stage screening. Twenty offspring had chromosomal abnormalities; 10 were identified by increased nuchal translucency at the early scan, one additional one (by hydronephrosis) at the late scan, and the remaining nine at birth. CONCLUSIONS: In a low-risk population, first-trimester scanning is useful in finding fetuses with chromosomal anomalies, but a second-trimester scan is needed for other types of defects. The sensitivity of routine screening by midwives for fetal structural defects in a general obstetric population remains lower than that reported by specialized centers.     

三个心脏超声切面在常见先天性心脏病产前诊断中的作用

目的 探讨三个胎儿超声心动图标准切面：四腔心切面、五腔心切面、三血管平面在发现和诊断胎儿常见先天性心脏病中的作用及对于先天性心脏病产前筛查的意义。方法 回顾2003年5月至2004年7月胎儿心脏畸形各病例的心脏超声图像，记录每一病例三个超声切面（四腔心切面、五腔心切面、三血管平面）的彩色多普勒超声图像表现，分析并总结各切面异常表现的特点。结果 （1）研究共包括胎儿心脏畸形病例26例，疾病类型包括房室间隔缺损、单纯性室间隔缺损、单心室、单心房、左心发育不良综合征、法洛四联症、右心室双出口、纠正性／完全性大动脉转位、动脉单干、主动脉瓣狭窄、肥厚性心肌病（梗阻型）、心脏肿瘤。（2）各心脏畸形病例在这三个心脏超声切面的扫查中至少有1个切面显示异常。每一类心脏畸形在这三个切面图像上均有特征性表现。（3）所有病例中二维四腔心切面（常规产科筛查切面）显示异常的比例为73％，四腔心切面未显示异常的病例包括：完全性大血管转位3例、法洛四联症1例、右心室双出口1例、动脉单干1例、主动脉骑跨伴室间隔缺损1例。（4）各标准切面获得率分别为：96．2％、88．5％、84．6％。结论 （1）四腔心切面、五腔心切面、三血管平面这三个胎儿彩色多普勒心脏超声切面探查在各类胎儿常见的先天性心脏病超声产前检查与诊断中起重要的作用。（2）与运用单个二维四腔心切面探查比较，三个切面的探查方法可提高常见先天性心脏病，尤其是胎儿心脏锥干畸形的检出率。（3）三个切面探查操作较为简便，有望成为一项胎儿先天性心脏病的筛查方法。     

Rate of prenatal detection of congenital right heart defects

Congenital right heart lesions (including tetralogy of Fallot, pulmonary valve stenosis, pulmonary atresia with intact ventricular septum, Ebstein's anomaly and dysplastic tricuspid valve) account for about 19% of congenital cardiac anomalies. We performed a retrospective study in order to assess the percentage of patients with significant right heart lesions (requiring therapy in the first year of life), which is detected prenatally and referred to a centre for perinatal treatment. From 1/1990 until 12/1997 congenital right heart lesions were diagnosed in 21 fetuses and 190 infants (211 patients. The majority of patients had tetralogy of Fallot (64%), less frequently we found critical pulmonary valve stenosis (9%), pulmonary atresia with intact ventricular septum (9%), tricuspid atresia (14%) and Ebstein's anomaly or dysplastic tricuspid valve (4%). Prenatally the cardiac anomaly was diagnosed in all 21 cases who were referred to our center (10%). The highest referral and detection rate was found among fetuses with Ebstein's anomaly or dysplastic tricuspid valve (5/8 patients = 63%) followed by fetuses with pulmonary atresia and intact ventricular septum (5/20 = 25%), critical pulmonary stenosis (4/18 = 22%) or tricuspid atresia (4/29 = 14%). The prenatal referral rate was disappointing in children with tetralogy of Fallot (3/136 = 2.2%). A higher prenatal detection rate of congenital right heart lesions can be achieved only by an improvement of prenatal screening including the 4-chamber view and the origin of the great arteries. A first step would be the inclusion of the fetal 4-chamber view into the routine examination during the 18th-20th week of pregnancy (stage 1 of a multistage concept of prenatal screening) and by assessment of the outflow tracts and the great arteries in pregnancies associated with risk factors or anomalies of the fetus (stage 2 and 3 of a multistage concept).     

Insight into the Genetic Relevance of Congenital Heart Defects

Congenital heart disease is the most common type of birth defect in the newborn??occurring in 1?% of neonates. In addition, cardiac defects account for nearly half of the neonatal deaths resulting from congenital malformations. Due to recent advances in spatial resolution of ultrasound machines and improvements in sonographic techniques, the clinician is increasingly able to detect cardiac anomalies in utero. At the same time, advances in cardiovascular surgery have improved the overall survival of the affected neonates. Due to the combination of advances in prenatal diagnosis and postnatal intervention, parents with fetuses affected by congenital cardiac defects have become the largest group who seek prenatal counseling on the risks of associated anomalies, risks for subsequent pregnancies, and the risks to the offspring of a successfully treated patient. Although most congenital heart defects are not familiarly clustered, genetic factors are still involved in most cases. In this review, we summarize recent evidence of chromosomal and genetic defects associated with congenital heart diseases to provide the optimal counseling and management for the parents with affected neonates.     

Caliber of the coronary sinus in fetuses with cardiac defects with and without left persistent superior vena cava and in growth-restricted fetuses with heart-sparing effect

OBJECTIVE: To assess reference ranges for fetal coronary sinus (CS) diameter and to compare them with values from fetuses showing heart defects with and without left superior vena cava (LSVC) as well as with severe intrauterine growth retardation and heart-sparing effect on color Doppler. METHODS: The coronary sinus was visualized on two-dimensional ultrasound in a plane slightly caudal to the apical four-chamber view. For the normal range of the size of the CS in relation to gestational age, data was collected from 108/114 (95%) normal fetuses with good visualization between 20 weeks' gestation and term. Abnormal conditions comprised two groups: group 1 consisted of 52 fetuses with heart anomalies, including three subgroups: 11 fetuses with isolated LSVC emptying into the coronary sinus, 12 fetuses with LSVC associated with structural heart defects and 29 fetuses with structural heart defects but without LSVC. Group 2 consisted of 11 fetuses with severe intrauterine growth retardation and dilated coronary arteries as seen by color Doppler ultrasound. RESULTS: Under normal conditions, there was a significant increase in the CS diameter with advancing gestational age (1.2-2.7 mm). Significant dilatation was found only in the two groups with LSVC (range 2.7-6.5 mm), independent of whether the finding was isolated or associated with cardiac defects. CONCLUSION: CS visualization and measurements are easily feasible in the human fetus in the apical four-chamber view. Significant dilatation of the CS is a sign of LSVC. The examiner should be aware of this condition as such dilatation is commonly falsely diagnosed as atrial or atrioventricular septal defect.     

Biometry of the fetal heart between 10 and 17 weeks of gestation

OBJECTIVES: Assessment of the dimensions of the cardiac chambers and the great arteries in the human fetus may be helpful in the prenatal diagnosis of congenital heart disease. The purpose of this prospective cross-sectional study was to compile normative data in fetal cardiac measurements in early pregnancy. The structure of the fetal heart was examined in 136 normal singleton fetuses between 10 and 17 weeks of gestation. METHODS: The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, heart circumference, thoracic diameter, thoracic circumference and thoracic area were measured in the four-chamber view during diastole. Diameters of the pulmonary trunk and ascending aorta were obtained in the short axis and long axis view during systole. Ultrasound examinations were performed with a 5.0-MHz transvaginal and/or transabdominal phased-array sector scanner. RESULTS: The four-chamber view and the cross-over of the pulmonary artery and the aorta were adequately visualized in 44% of the fetuses at 10 weeks of gestation, in 75% at 11 weeks of gestation, in 93% at 12 weeks of gestation and in 100% of the fetuses at 13-17 weeks of gestation. Before 14 weeks of gestation transvaginal sonography was superior to the transabdominal sonography in visualization of the fetal heart and great arteries. After 14 weeks of gestation transabdominal sonography accurately demonstrated the structure of the fetal heart. The ratio of right and left ventricle (RV/LV) and the ratio of the pulmonary trunk and aorta (PT/AO) were constant during this period of gestation (approximately 1.00 and 1. 10, respectively). The ratio of the cardiac and thoracic area showed only a slight increase with advancing gestational age, but with significant correlation. The fetal heart rate showed a slow decrease from 167 to 150 bpm in this period of gestation. The transversal heart diameter, both ventricular dimensions, interventricular septal thickness, heart area, cardiothoracic diameter ratio, aortic diameter and the pulmonary trunk diameter showed a highly significant linear correlation to the gestational age and the biparietal diameter. CONCLUSION: The advancing quality of ultrasound images allows fetal echocardiography in the first and early second trimester. Our normative data could be the basis of studying the development of cardiac structures in congenital heart disease and it might be helpful in the detection of some congenital heart defects in early pregnancy.     

Screening for congenital heart disease

Congenital heart disease has the characteristics of a disease that is suited to screening, and the four-chamber view is an effective screening tool with a sensitivity of 40% to 50%. The use of multiple cardiac views can increase the pre-natal detection to 60% to 80%. Given that most infants with congenital heart disease are born to low-risk women, routine screening is warranted. Early pre-natal diagnosis provides an opportunity to exclude associated extracardiac and chromosomal abnormalities, discuss pregnancy options, adjust obstetric management, prepare parents for delivery of an affected baby, and plan delivery in a tertiary care center. Despite the widespread use of ultrasonography, only 15% to 30% of infants with congenital heart disease are identified prenatally.There is a need to do better.     

Prenatal diagnosis and management of fetal cardiovascular malformations

Screening for fetal cardiovascular malformations is widely performed. Its accuracy is not yet satisfactory, but better training of ultrasonographers and extension from the four-chamber view to the study of the outflow tract are probably clues to an improvement. The main impact of prenatal diagnosis is still the termination of pregnancy for severe malformations and for those associated with chromosomal or extracardiac anomalies. There is now evidence that prenatal diagnosis improves perinatal morbidity or mortality for some malformations. New information about the molecular genetic basis of congenital heart disease will help in management and counselling.     

彩色多普勒超声心动图检测胎儿先天性心脏病

目的　探讨彩色多普勒超声心动图检测胎儿先天性心脏病 (先心病 )的可行性。　方法　 2 96例胎儿分为两组 :14 2例有高危因素的胎儿 ,15 4例正常妊娠胎儿。应用多普勒测定胎儿心脏各切面 ,并在生后作超声心动随访。　结果　在 14 2例有高危因素的胎儿中 ,发现胎儿先心病 5例 ,其中右心发育不良综合征 1例、法洛四联症 2例、单纯性室间隔缺损 (室缺 ) 2例。漏诊 2例 ,为单纯性室缺1例及房间隔缺损 1例。 15 4例正常妊娠胎儿中未发现先心病。生后超声心动随访或引产尸检结果与产前诊断相符。　结论　彩色多普勒超声心动图在诊断胎儿先心病方面是比较准确和安全的 ,对高危孕妇需加强胎儿先心病的检测     

"胎儿心脏筛查指南"在产前超声筛查胎儿先天性心脏病中的应用价值

目的 探讨2006年国际妇产科超声协会公布的"胎儿心脏筛查指南"在产前超声筛查胎儿先天性心脏病中的应用价值.方法 2006年9月-2007年7月在南京大学医学院附属鼓楼医院母胎医学中心接受胎儿超声筛查的单胎孕妇5000例.平均年龄28岁(18～48岁),平均孕周27周(妊娠18～40周).以"胎儿心脏筛查指南"为标准对胎儿四腔心和左、右心事流出道及三血管切面进行扫查,对疑有心脏异常者进一步行胎儿超声心动图枪查,对确诊先天性心脏病胎儿建议羊水或脐血穿刺行染色体核型分析,终止妊娠者行胎儿尸体心脏解剖;继续妊娠者,于胎儿出生后2～6个月行超声心动图随访.结果 (1)超声筛查各切面获取率:5000例单胎孕妇中,四腔心切面获取率为97.64%(4882/5000),其中左、右心室流出道及三血管切面的获取率分别为87.69%(4281/4882)、82.51%(4028/4882)和96.29%(4701/4882).5000例孕妇中,孕中期筛查2750例,孕晚期筛查2250例,孕晚期各标准切面的获取率明显低于孕中期(P<0.05).(2)胎儿先天性心脏病发病率:4882例胎儿中最终诊断先大性心脏病73例,发病率为1.50%(73/4882),其中产前超声确诊50例(孕中期24例、孕晚期26例).超声漏诊23例,误诊1例,合并其他器官畸形18例.(3)随访结局:产前诊断为先天性心脏病的胎儿中接受尸体心脏解剖19例,均与产前超声诊断结果一致;继续妊娠者胎儿出生后接受超声心动图检查12例,其中与产前诊断符合11例,另1例产前诊断三尖瓣关闭不全,产后超声检查正常.接受染色体检查23例,染色体核型异常7例.(4)产前超声筛查的敏感性与特异性:四腔心切面确诊先天性心脏病胎儿28例,同时加入左、右心室流出道及三血管切面共诊断先天性心脏病50例,诊断的敏感性为69%(50/73)、特异性为99.98%(4808/4809),假阴性率为0.48%(23/4831),假阳性率为2%(1/51).结论 国际妇产科超声协会2006年公布的"胎儿心脏筛查指南"临床实用、易于遵循、便于操作.就最佳超声切面获得来说,孕中期(18～27周)是最佳筛查时间.胎儿四腔心和左、右心窒流出道及三血管切面同时筛查,可产前诊断69%的先天性心脏病胎儿.     

Prenatal diagnosis of aneuploidy and deletion 22q11.2 in fetuses with ultrasound detection of cardiac defects

OBJECTIVE: We report a prospective database evaluation of the occurrence of aneuploidy and deletion 22q11.2 after prenatal detection of cardiac abnormalities. To ensure the maximum inclusion, all cardiac defects were considered, with the exception of echogenic intracardiac foci. STUDY DESIGN: Prenatal specimens with ultrasound findings of cardiac defects were identified. Physicians were provided supplementary information that described the risk of deletion 22q11.2 syndrome if the karyotype was normal. On approval, fluorescence in situ hybridization was performed to identify the 22q11.2 microdeletion. RESULTS: Prenatal detection of cardiac abnormalities identified aneuploidy or unbalanced chromosome rearrangements in 41% of the cases that were studied. In those fetuses with normal karyotypes, 3% had the deletion 22q11.2. CONCLUSION: These results indicate that prenatal ultrasound findings of congenital heart defects identify fetuses who are at increased risk for chromosome abnormalities. Fetuses with normal karyotypes should consider having fluorescence in situ hybridization studies for the microdeletion 22q11.2 syndrome. Chromosome and fluorescence in situ hybridization studies of family members should be recommended when a fetus is identified as having the deletion 22q11.2.