Outcome for fetuses with prenatally detected congenital heart disease and cardiac arrhythmias in Taiwan.

BACKGROUND/PURPOSE: Outcome for fetuses with prenatally detected congenital heart disease (CHD) and/or cardiac arrhythmias is important for prenatal counseling and perinatal management; however, there exists little literature regarding the outcome for CHD diagnosed in utero in Taiwan. Therefore, we attempted to investigate the outcome for fetuses with CHD and/or cardiac arrhythmias diagnosed prenatally at a tertiary care medical center in Taiwan. METHODS: Between January 1995 and December 2000, 339 patients referred to the National Taiwan University Hospital for fetal echocardiography were included in this study. Medical records were reviewed retrospectively to determine the salient clinical characteristics for all fetuses. RESULTS: CHD was found in 103 fetuses. Gestational age at diagnosis ranged from 17 to 40 weeks; in 37 cases (35.9%) the diagnosis was made before 24 weeks. Mean gestational age at diagnosis was 27.8 weeks. Of the 103 cases, 15 fetuses (14.6%) had major extra cardiac malformations and 15 fetuses (14.6%) had chromosomal abnormalities (five had both) and 30 pregnancies (29.1%) were terminated. Of the remaining 73 pregnancies, three (4.1%) of the fetuses died in utero and 28 (38.4%) postnatally, with 42 (57.5%) surviving. The mortality rates were both 60% in cases with extracardiac or chromosomal anomalies. Arrhythmias were identified in 25, and two pregnancies involving hydrops fetalis were terminated. Of the remaining 23 continued pregnancies, two (8.7%) with long QT syndrome expired postnatally. CONCLUSION: Outcome for fetuses with prenatally detected CHD remains poor, with the prognosis negatively influenced by the presence of complex heart defects as well as extracardiac and chromosomal anomalies. However, prognosis is good for fetuses with cardiac arrhythmia, except with long QT syndrome or hydrops fetalis.     

Fetal cardiac malposition: incidence and outcome of associated cardiac and extracardiac malformations

Cardiac malposition is a rare but important finding when detected on fetal ultrasound. The purpose of this study was to evaluate the incidence of fetal cardiac malposition, associated abnormalities, and clinical outcome in a tertiary-care medical center. Records of fetuses (1993 to 2006) with dextroposition, dextrocardia, mesocardia, ectopia cordis, or heterotaxy were reviewed. The presence of congenital heart disease (CHD), extracardiac anomalies, and outcome were noted. Cardiac malposition was present in 101 fetuses among a total of 3313 (3%) pregnancies. In 78 (78%) patients, the heart was positioned in the right hemithorax. Of those, 26 (33%) had dextrocardia (CHD = 21), and 52 (67%) had dextroposition (CHD = 14). Sixteen (16%) patients had mesocardia (CHD = 8), and 7 (7%) had ectopia cordis (CHD = 6). The majority (58%) of fetal cardiac malposition was caused by intrathoracic masses. Concomitant CHD occurred in 50%. Outcome was available in 97%. The perinatal and neonatal mortality rate was 30%; the elective termination rate was 4%. Patients with CHD had higher mortality rates. The highest mortality rates occurred in ectopia cordis and combined disease of diaphragmatic hernia and CHD.     

Congenital heart disease and fetal thoracoabdominal anomalies: associations in utero and the importance of cytogenetic analysis.

We examined the frequency with which congenital heart disease (CHD) and cytogenetic abnormalities were found associated with omphalocele, gastroschisis, duodenal atresia and posterior diaphragmatic hernias. We performed fetal echocardiograms on 80 patients with these diagnoses and found congenital heart disease in 13 of 37 with omphalocele (35%), 2 of 17 with gastroschisis (12%), 4 of 15 with duodenal atresia (27%), and 2 of 11 with posterior diaphragmatic hernia (18%). Karyotypes were obtained in 74 and were abnormal in 24 (32%). Although most fetuses with these extracardiac malformations and abnormal karyotypes had associated CHD, many did not. Normal karyotypes were found in 69% of fetuses with CHD and omphalocele, and 50% of fetuses with CHD and duodenal atresia. We conclude that CHD may be present in fetuses with extracardiac malformations whether or not the karyotype is normal and that the prenatal evaluation of fetuses with these lesions should include both karyotype and fetal echocardiography. Although karyotypes play an important role in prenatal diagnosis, they are not predictive of normal cardiac structure when normal in the abnormalities studied. Even when the karyotype is normal in the presence of these abnormalities, fetal echocardiography is indicated.     

Prenatal diagnosis of congenital heart disease in the Naples area during the years 1994-1999 -- the experience of a joint fetal-pediatric cardiology unit

OBJECTIVES: To analyse the spectrum and frequencies of observed malformations; to evaluate associated extracardiac and chromosomal anomalies and outcomes in each diagnostic category; to demonstrate the need for a multidisciplinary approach to the diagnosis of CHD in the fetus. METHODS: From January 1994 to December 1999, 450 cases of CHD were detected among 4052 pregnancies at risk of fetal CHD seen at our combined unit. Confirmation of the diagnosis was not available in 50 cases, leaving 400 cases for analysis. From our computerized database, the following variables were retrieved and analysed: indication, gestational age at diagnosis, associated extracardiac anomalies, karyotype, natural history, pregnancy and feto-neonatal outcome. RESULTS: CHDs most commonly detected were VSD (75 cases), AVSD (40 cases) and HLH (37 cases). The aneuploidy rate was 29.3% in the 355 cases submitted for karyotyping (25.9% in the whole series), with a prevalence of trisomy 21 and 18 (48 and 30 cases, respectively). The aneuploidy rate was highest for AVSD (80%), coarctation (49%), tetralogy of Fallot and VSD (45%). Associated extracardiac anomalies were present in 29.5% of the cases (118/400). As for pregnancy outcome, there were 150 (37.5%) terminations of pregnancy, 16 (4%) intrauterine fetal deaths and 85 (21.3%) neonatal deaths. The remaining 149 neonates are alive (37.3% survival rate). The termination rate for pregnancies in which CHD was detected at a gestational age <25 weeks was 65.2%. Evolutive changes determined progressive prognostic deterioration in 21 cases (5%), consisting of semilunar valve obstructions and development of ventricular hypoplasia. CONCLUSIONS: The high association rate with extracardiac and chromosomal anomalies (29.3% and 25.9%) and the possible progressive prognostic deterioration require a multidisciplinary team for correct management and follow-up. Survival of fetuses with certain CHD is severely reduced, in comparison with postnatal figures, for the common association with aneuploidies.     

Value of fetal echocardiography in diagnosis of congenital heart disease in a Serbian university hospital

OBJECTIVE: Ultrasound examination for each and every pregnancy is being accepted as a standard practice worldwide, and prenatal ultrasound diagnosis of congenital heart disease (CHD) is improving due to both staff education and ultrasound equipment modernization. The objective of this study was to estimate the value and accuracy of fetal echocardiography for diagnosis of fetal CHD in a large tertiary referral center for obstetrics and gynecology. METHODS: This study was based on a prospective follow-up of 27,051 consecutive patients at the Institute of Ob/Gyn, Belgrade, during 1999-2003. Out of this population a total of 517 (1.9%) patients were selected for fetal echocardiography. The final diagnosis of congenital heart disease was confirmed or rejected on the basis of autopsy and histopathological findings, for the dead fetuses and newborns, or on the basis of neonatal echocardiography (followed by surgery/invasive diagnostic procedure), for the living neonates. RESULTS: From the total population analyzed, there was 71 gravida (0.26%) with congenital fetal heart disease. In that study group, the most frequent cardiac anomalies were complex congenital heart diseases. Analyzing the outcome, there were 67.6% cases with fetal CHD who delivered live neonates. Out of the 73 fetuses/neonates with CHD, abnormal karyotype was detected in only 9 cases. The parameters of the diagnostic value of fetal echocardiography were as follows: sensitivity 94.4%, specificity 99.8%, positive predictive value 98.5%, negative predictive value 99.1%, and overall diagnostic accuracy 99.0%. CONCLUSION: Fetal echocardiography has a very high diagnostic accuracy, commending referral of suspected patients to large tertiary referral centers.     

Diagnosis and prognosis of fetuses with double outlet right ventricle

OBJECTIVES: To examine the echocardiographic features, associated anomalies, and outcomes of fetuses diagnosed with double outlet right ventricle (DORV). METHODS: Fetuses with DORV were identified from 987 fetal echocardiograms performed from August 1, 2002 to August 1, 2004. The medical records of 19 fetuses with DORV were reviewed. RESULTS: Nineteen fetuses were diagnosed with DORV. The pregnancy was terminated in 15.8% (3/19) of cases. Postnatal assessment was not obtained in 26.3% (5/19) cases. Accurate prenatal diagnosis of the relationship of the ventricular septal defect (VSD) with the great arteries was achieved in 14 of 14 cases (100%). Chromosomal abnormalities (21.4%), abnormalities of body situs (35.7%), and other extracardiac abnormalities were diagnosed in association. Only 4 of 13 (30.8%) infants with confirmed DORV survived beyond 28 days. CONCLUSIONS: DORV is found in fetuses with a large spectrum of associated cardiac and extracardiac lesions. The overall prognosis for fetuses with DORV is poor throughout the spectrum of these lesions, not only related to the primary lesion but also depending on the associated intra- and extracardiac abnormalities. While the complexity of the heart disease in fetuses with DORV makes detailed fetal diagnosis challenging, it can be accomplished with a high degree of accuracy.     

Diagnosis and prognosis in double-outlet right ventricle

The aim of this study was to examine prenatal diagnosis of double-outlet right ventricle (DORV)-associated anomalies and prognosis of each case. Medical records were reviewed of fetuses with DORV who had fetal echocardiography at our institution from 2002 to 2006. Pre- and postnatal diagnosis and outcome were compared and evaluated. Twenty-one fetuses were diagnosed with DORV. The pregnancy was terminated in seven cases. Three cases had chromosomal abnormalities; three cases, hypoplastic left ventricle; and one case, encephalocele. Accurate prenatal diagnosis of the ventricular septal defect, outflow obstruction, and great artery relationship was achieved in 14 of 16 cases (87.5%). Only 2 of 13 live-born cases survived beyond 6 months. The overall prognosis for fetuses with DORV is poor. DORV is found in fetuses with a huge spectrum of associated cardiac and extracardiac anomalies. Careful assessment by fetal echocardiography can determine important anatomic details with adequate correctness for precise counseling.     

Long-term outcome in fetuses with cardiac arrhythmias

OBJECTIVE: The objectives of this follow-up study of 292 fetuses with various cardiac arrhythmias were to estimate the incidence of structural heart defects and fetal compromise, to investigate the effects of antiarrhythmic medication, and to evaluate perinatal mortality and morbidity and long-term outcome. METHODS: The arrhythmias were classified into atrial extrasystoles (n = 200), atrial tachycardias (n = 35), atrioventricular block (n = 36), sinus bradycardia (n = 14), and ventricular extrasystoles (n = 7), and outcome of the infants was analyzed. RESULTS: The incidence of cardiac anomalies was 12% in the study population. In utero cardiac failure was noted in 11%. Among fetuses with atrial extrasystoles, 1% developed supraventricular tachycardia after birth. During antiarrhythmic therapy, sinus rhythm was achieved in 92% of nonhydropic and in 63% of hydropic fetuses. The latter had higher mortality and risk for neurologic morbidity than did nonhydropic fetuses; 38% versus 3.7% and 40% versus 12%, respectively. Among fetuses with atrioventricular block only, the survival rate was 82%, with a heart defect, prognosis was poor: 50% survived. Sinus bradycardia and ventricular extrasystoles were associated with survival rates of 75% and 67%. In the follow-up of the whole study population lasting a median 5 years, 93% are alive and 3% have a neurologic disorder. CONCLUSION: All fetal arrhythmias except atrial extrasystoles were associated with a moderately high risk for fetal distress. In cases of compromise, fetal and neonatal prognosis was poor and was an indication for perinatal medication. After the newborn period, the prognosis has been good. However, the risk for neurologic morbidity must be taken into consideration.     

Omphalocele and gastroschisis: prenatal diagnosis and peripartal management. A case analysis of the years 1989-1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar

OBJECTIVE: The article presents a retrospective analysis (1989-1997) of the prenatal diagnosis, the course and completion of pregnancy of 26 fetuses with omphalocele and 18 fetuses with gastroschisis. SUBJECTS: 44 pregnancies with anterior fetal wall defect diagnosed by prenatal ultrasound, clinical or patho-anatomic examination between 1989 and 1997 at the Department of Obstetrics and Gynecology, University of Homburg/Saar. RESULTS: In 40 of 44 pregnancies (91%) the fetal ventral abdominal wall defect could be detected antenatally with ultrasound. Associated malformations in fetuses with omphalocele were seen in 18 cases (69%), whereas only five fetuses with gastroschisis (28%) had an associated malformation. Nineteen of 26 fetuses (73%) with omphalocele had a normal karyotype. Seven of 26 fetuses (27%) with omphalocele had an abnormal karyotype. Eleven fetuses with omphalocele were live born, three of them with minor anomalies. Ten babies with omphalocele survived. No chromosomal anomalies were detected in fetuses with gastroschisis. There were four gastrointestinal malformations and one lethal associated malformation in fetuses with gastroschisis. There were 15 live born babies with gastroschisis, all of whom have survived. In 20 of 44 cases (45%) with ventral abdominal wall defect oligohydramnios could be detected by ultrasound. In 28 of 44 cases (64%) we found fetal growth retardation <10th percentile for gestational age. CONCLUSION: In case of a fetal ventral abdominal wall defect, the detection and appropriate classification of associated fetal anomalies is of great importance for the further course of pregnancy. Fetal karyotyping should be offered in case of a fetal abdominal wall defect. Early and close prenatal consultation of the neonatologist and the pediatric surgeon will favorably influence the perinatal outcome.     

Doppler in fetal heart failure

Fetal echocardiography has progressed to be able to diagnose many forms of congenital heart disease (CHD) and to assess the prognosis of cardiac lesions based on their anatomy and presentation in utero. Fetal echocardiography is for pregnancies at risk of structural, functional, and rhythm-related fetal heart disease. Routine obstetrical ultrasound screening is critical in the prenatal detection of fetal heart disease/CHD. With or without CHD, fetal heart dysfunction defined as inadequate tissue perfusion may occur. Perinatal problems other than CHD can also be assessed, such as the effects of noncardiac malformations that affect hemodynamics, that is, twin-twin transfusion. Cardiac rhythm can affect cardiac function and outcome, and prenatal diagnosis can be lifesaving. A tool for the assessment of cardiac function is the Cardiovascular Profile Score that combines ultrasonic markers of fetal cardiovascular unwellness based on univariate parameters, which have been correlated with perinatal mortality. This "heart failure score" could potentially be used in much the same way as and in combination with the biophysical profile score. This study will present a summary of fetal Doppler and its place in the diagnosis and assessment of prognosis of fetal heart failure.     

胎儿皮肤血管瘤的超声影像特点及胎儿结局

目的 探讨胎儿皮肤血管瘤的超声影像特点及胎儿结局.方法 应用灰阶和彩色多普勒超声对5例皮肤血管瘤胎儿进行观察分析,并与出生后血液学检查及皮肤血管瘤病理检查结果比较.结果 超声诊断的5例皮肤血管瘤胎儿中,3例伴有动静脉瘘,其中2例发生心功能衰竭,1例出现心功能异常和血小板减少.此3例胎儿中1例引产,1例胎死宫内,1例新生儿存活;另外2例血管瘤较小,无其他并发症发生,新生儿预后好.结论 胎儿较大的皮肤血管瘤,易发生致命性的并发症,如心功能衰竭、血小板减少症,围产儿预后差.     

Fetal echocardiography: accuracy and limitations in a population at high and low risk for heart defects.

OBJECTIVE: Our objective was to assess the accuracy of prenatal echocardiography in detecting congenital heart defects in patients at high and low risk for structural cardiac anomalies. STUDY DESIGN: Sixty-nine consecutive fetuses with congenital heart defects who had had prenatal ultrasonography at greater than or equal to 18 weeks' gestation were evaluated to determine the accuracy of prenatal ultrasonography in identifying structural cardiac defects. Thirty-nine patients were at high risk and 30 patients were at low risk for cardiac anomalies. All fetuses were scanned with standard four-chamber and outflow tract views. Data concerning extracardiac anomalies and karyotypic abnormalities were tabulated. The accuracy of the four-chamber view alone in identifying congenital heart defects was evaluated. RESULTS: Fifty-seven of 69 fetuses (83%) were prenatally identified ultrasonographically as having a heart defect. There was no difference in the sensitivity of detecting cardiac anomalies between high-risk and low-risk groups. When the four-chamber view was used, only 63% of fetuses were recognized as having an abnormal heart. Extracardiac anomalies were noted in 36% and karyotypic abnormalities in 17% of patients. CONCLUSION: The four-chamber and outflow tract views done routinely in an ultrasonography laboratory seeing a mixed population of patients was successful in detecting 83% of fetuses with structural cardiac malformations. Because 43% of the fetuses with heart defects were referred for low-risk indications, systematic ultrasonographic examination of the fetal heart should not be reserved only for those at high risk.     

Fetal Echocardiography Assists in Determining Optimal Delivery Site

ObjectiveCongenital heart disease is one of the most common types of structural fetal abnormalities and a major cause of perinatal morbidity and mortality. Fetal echocardiography aids in the diagnosis of congenital heart disease, which allows management planning for parents and physicians, including continuation or termination of the pregnancy and triaging for location of delivery. This is a key component of planning, as transport of neonates entails risks, costs, and parental stress. In this study, we examined the outcomes of pregnancies with fetal cardiac anomalies diagnosed at a single tertiary care centre. We aimed to assess whether the system of directing affected pregnancies to either a tertiary and quaternary care centre is effective.MethodsWe identified pregnancies with fetal cardiac anomalies diagnosed on fetal echocardiography between 2005 and 2009. Information about diagnosis, pregnancy outcome, delivery location, and surgical management was collected. This information was analyzed retrospectively.ResultsAnomalies were demonstrated in 120 fetal echocardiography studies. Four of the babies (3.3%) were stillborn, and 27 (22.5%) pregnancies were terminated. There were 89 live born babies, and 74 of these (61.7%) survived the neonatal period. Fifteen babies (12.5%) died as neonates. Thirty-two pregnant women were triaged to deliver at the quaternary centre with pediatric cardiac surgery services, and 20 of these babies underwent surgery. Two of the 89 live born babies (2.2%) required emergency transfer.ConclusionFetal echocardiography is an important contributor to efficient use of pediatric cardiac services and minimizes need for neonatal transfer. Contemporary use of fetal echocardiography is associated with optimized delivery location.     

Non-immune hydrops fetalis--prognostic factors based on fetal echo (analysis in 230 cases)

OBJECTIVES: The aim of the research was to assess whether all reasons of NIHF were leading to the same poor outcome. MATERIALS AND METHODS: The material of the research study consisted of 192 fetuses with follow up from 230 fetuses with NIHF who had echocardiography and detailed sonography between 1992 and 2002. RESULTS: The most common anomalies associated with NIHF were cardiological anomalies n = 71 (30.8). The remain extracardiac causes of NIHF were: so called "other structural defects" n = 24 (10.4%), infections (without myocarditis) n = 24 (10.4%), multiple structural defects n = 20 (8.7%), urogenital defects n = 17 (7.4%), pulmonary anomalies n = 17 (7.4%), gastrointestinal anomalies n = 12 (5.2%), chromosomal defects n = 8 (3.5%), mirror syndrome n = 2 (0.9%) and idiopathic n = 35 (15.3%). In the group of NIHF 102 fetuses (44.3%) presented echocardiographic signs of congestive heart failure which statistically increased mortality ratio. In the group of fetuses with NIHF follow up was established in 192 (83.4%) fetuses/newborns; there were n = 139 (72.4%) demise and n = 53 (27.6%) alive. Therapy in utero was applied to 28 cases. In this group 13 fetuses/newborns (46.4%) survived. CONCLUSIONS: Multiple structural anomalies and cardiological anomalies causing NIHF are connected with poor prognosis for fetus or neonate. Congestive heart failure coexisting with NIHF (in our series in about 44%) significantly increased mortality ratio what point the special role of fetal echocardiography. Relatively better prognosis was observed possible in cases with NIHF without structural anomalies and mild intensify or due to infection but without cardiac anomalies. In selected fetuses therapy in utero may increase the survival ratio.     

Diagnosis and outcome of pregnancies with prenatally diagnosed fetal dextrocardia

Objective: To evaluate the incidence, associated cardiac and extracardiac malformations and clinical outcome of fetuses with dextrocardia.

Method: A retrospective review of 3556 fetal echocardiograms between 2000 and 2011 revealed 39 cases of dextrocardia. Dextrocardia was defined as right-sided positioning of the fetal heart. Prenatal and postnatal records of the fetuses were reviewed.

Results: The incidence was 1.1%. Of the 39 fetuses, 22 were primary dextrocardia and 17 were dextroposition. Diaphragmatic hernia was the most common cause of dextroposition with the incidence of 76%. Of the fetuses with dextroposition 35.5% had a cardiac anomaly. The survival rate of dextroposition was 31.2% and none of the survivors had an associated cardiac anomaly. Primary fetal dextrocardia was most common with situs solitus (45.4%), followed by situs ambiguous (36.3%) and then situs inversus totalis (18.1%). Structural cardiac malformations were found in 100%, 80% and 25% of fetuses with situs ambiguous, solitus and inversus, respectively. Of the dextroposition, 47.6% terminated pregnancy, 14.2% resulted in intrauterine death, 9.5% died after birth, and 28.5% survived.

Conclusion: A wide spectrum of complex cardiac malformations are associated with fetal dextrocardia. Fetal echocardiography enables detection of complex cardiac anomalies so that parents can be appropriately counselled.     

产前超声诊断单脐动脉与胎儿异常的相关性研究

目的探讨超声检测胎儿脐带血管数目预测胎儿先天异常的价值。方法2000年1月至2006年10月在中山大学附属第一医院采用超声检测胎儿脐血管数目，对单脐动脉胎儿行产前超声系统筛查及胎儿染色体检查；分析单脐动脉合并畸形类型，与染色体异常的关系及胎儿结局。结果产前超声诊断胎儿单脐动脉119例，包括左侧72例（60．5％），右侧47例（39．5％）。单纯性单脐动脉59例（49.6％）；合并其他结构畸形60例（50．4％），其中泌尿系统畸形25例（41．7％），心血管系统畸形17例（28.3％），中枢神经系统畸形15例（25.0％），下肢畸形9例（15．0％），前腹壁和消化道畸形各5例（各占8．3％），唇裂或唇腭裂畸形3例（5．0％），其他畸形3例（5．0％）。行胎儿染色体检查41例，发现染色体异常8例，包括18-三体综合征3例、13-三体综合征1例、21．三体综合征1例、染色体片段异常3例，均合并其他畸形。结论胎儿单脐动脉左侧发生率高于右侧，约50％合并其他畸形；合并畸形时，染色体异常发生率较高；大部分单纯性单脐动脉胎儿结局良好。     

Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in Europe

Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996-1998, 709 030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into 'isolated' when only a cardiac malformation was present and 'associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20-24 weeks for the majority of associated cardiac defects.     

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.     

Antenatal ultrasound diagnosis of fetal malformations: possibilities, limitations and dilemmas

The antenatal ultrasound diagnosis of fetal abnormalities in 150 fetuses over the period 1975-early 1983 is reported. The perinatal outcome of the whole series has been assessed. The most frequently encountered malformations involved the central nervous system (34.9%), the nephro-urological system (17.2%), and the gastro-intestinal tract, abdominal wall and diaphragm (17.1%). Neonatal findings in incompletely explained polyhydramnions, fetal hydrops, and severe intrauterine growth retardation are also commented upon. Numerical chromosomal abnormalities were present in at least 13.3% of the malformed fetuses. The accuracy of the antenatal ultrasound diagnosis in a defined subgroup with congenital malformations resulting in perinatal death was analysed: in 76.9% one (or more) malformations were correctly diagnosed or relevant information was obtained. Comment is made on the obstetrical management and its inherent dilemmas, with appropriate references to the literature. Antenatal ultrasound, together with complementary techniques, can reach an acceptable level of accuracy, but associated anomalies may be missed. Groups for which there are different prognoses can be assessed, and serve as a guideline in perinatal management. Ethical attitudes, psychological aspects, and the possible promises of fetal treatment are briefly discussed.     

92例单脐动脉胎儿的结局

目的 探讨与单脐动脉并发的其他胎儿畸形及妊娠结局,为孕期咨询和处理提供依据.方法 对2007年9月至2009年7月之间在本院诊断并分娩的92例单脐动脉胎儿的结局进行回顾分析及随访.结果 25292例分娩的孕妇中确诊单脐动脉共92例,发生率为0.36％,其中53例(57.6％)新生儿无畸形存活,14例(15.2％)带畸形生存,围产儿死亡25例(27.2％).92例单脐动脉胎儿中伴畸形者共36例(39.1％),其中单发畸形29例(占80.6％),多发畸形7例(占19.4％).心脏畸形发生率位居首位,其他畸形依次为中枢神经系统、消化系统、运动系统及泌尿系统的畸形.单脐动脉孕妇同意选择胎儿染色体检查共33例,其中3例有染色体畸形(9.1％).92例中伴发小于胎龄儿者23例(25.0％),其中78.3％(18/23)的小于胎龄儿死亡,明显高于同期非单脐动脉小于胎龄儿的病死率4.0％ (24/597)(x2=181.71,P＜0.01).结论 单脐动脉易伴发其他先天畸形,孕期B超发现单脐动脉后,需要进一步寻查其他畸形,进行胎儿超声心动、胎儿染色体核型分析等检查,伴发严重胎儿生长受限,是胎儿不良结局的重要指标.