Analysis of cases with fetal extrasystole coexisting with cardiac and extracardiac pathology

OBJECTIVE: The paper presents a review of cases with fetal extrasystole coexisting with different cardiac and extracardiac pathology. DESIGN: The aim of the study is to analyse the results of echocardiographic examinations of fetuses with premature atrial contractions (PAC) quantitatively significant (bigeminy, trigeminy) or coexisting with other abnormal findings in fetal heart or other extracardiac pathologies. MATERIAL AND METHOD: Selected group of 33 (24%) fetuses from 135 with fetal extrasystole was analyzed. The mean gestational time of diagnosis was 29.2 + 4.1 weeks. RESULTS: Quantitatively significant arrhythmia (bigeminy, trigeminy) was diagnosed in 14 fetuses. Blocked PAC (2:1) occurred in two cases causing fetal bradycardia. Premature atrial extrasystole coexisting with different type of arrhythmias were diagnosed in 10 cases (4 x with SVT, 4 x with sinus bradycardia, 2 x with ventricular extrasystole). Heart defects in the analyzed group with PAC were recognized in two fetuses (1 x d-TGA, 1 x heterotaxy syndrome--common a-v canal). Myocarditis was diagnosed in 3 (9%) cases. From the group of 33 fetuses 6 newborns died (1 x d-TGA, 1 x T18, 1 x myocarditis, 1 x circulatory centralization). Mortality in the analyzed group was 18.2%. CONCLUSION: In cases of fetal arrhythmias echocardiography should be widely applied in order to evaluate the kind of arrhythmia, sufficiency of circulation and coexistence of heart defects, extracardiac malformations or functional abnormalities with arrhythmia in fetal circulation.     

Analysis of mode of delivery in cases with fetal premature atrial contractions

OBJECTIVE: Premature atrial contractions are common in obstetrical practise but there is little information available on recommended management and mode of delivery. DESIGN: The aim of the study was to describe our clinical experience in the management of fetal arrhythmia including the indications for certain time and way of labour. MATERIALS AND METHODS: 128 fetuses with diagnosed supraventricular arrhythmia described as atrial extrasystole were examined. They were divided into 3 main groups: group I (84 fetuses) with single PAC, group II (37 fetuses) with quantitatively significant arrhythmia or accompanied by another kind of arrhythmia and group III (7 fetuses) associated with extracardiac abnormalities. RESULTS: Among 128 fetuses with supraventricular arrhythmia, 44 cases (31%) required systematic monitoring. Quantitatively significant arrhythmia was recognized in 15 cases, blocked bigeminy (2:1) in 2 fetuses, 10 cases were accompanied by another arrhythmias: 4x SVT, 4x sinus bradycardia, 2x premature ventricular contractions (PVC). There were 3 fetuses diagnosed with heart defects and 7 with extracardiac malformations. Fetal echocardiography revealed additional functional circulatory changes in 7 fetuses with premature atrial contractions. Myocarditis was recognized in 2 fetuses. The mode of delivery was analyzed in 128 cases. In the first group 27 patients (32%) underwent caesarean section, in the second group--23 (62%), in the third group 3 patients (43%), respectively. Cardiac indications for caesarean section equalled 22% of all the indications occurring in fetuses suffering from arrhythmia. CONCLUSIONS: Caesarean section is much more commonly performed among fetuses diagnosed with arrhythmia accompanied by another fetal anomalies comparing to the group of fetuses with isolated arrhythmia. Although there are no particular cardiac indications for such way of delivery, total amount of caesarean sections performed in that group is really great. Above all, it may suggest that the obstetrician is under pressure of stress while making decision concerning caesarean section performance, even when there are no other indications and the condition of fetus is stable enough.     

胎儿心律失常的临床意义及预后的研究

目的 总结胎儿心律失常原因，进一步探讨其临床意义及对胎儿预后的影响。方法 采用回顾性分析方法，对26例胎儿心律失常孕妇的情况、胎儿心律失常的临床表现、诊断方法及长期随诊结果进行总结。结果 胎儿心律失常的发生率为0．2％。26例胎儿心律失常中，3例为胎儿心动过速(11．5％)，4例为胎儿心动过缓(15．4％)，19例为不规则胎儿心律(73．1％)；胎儿心律失常平均诊断孕周为35托周(15～41^ 1周)。26例中22例为产前胎心听诊时发现胎儿心律失常；1例为妊娠15周超声检查时发现胎儿心律失常；3例胎心监测发现胎儿心律失常。17例产前进行了胎儿超声心动检查，心脏结构未见异常，其中6例胎儿超声心动检查提示胎儿房性早搏，占35．3％，余未见异常。产后新生儿均存活，随诊24例(92．3％)，16例新生儿进行了超声心动检查，其中2例诊断为先天性心脏病，均为房间膈缺损。先天性心脏病新生儿在心律失常胎儿中发生率为7．7％。结论 大多数心律失常的胎儿预后是好的，心脏畸形的发生率很低。对于持续性心率慢的胎儿，需注意心脏结构异常的存在；对于心律失常胎儿的处理采用期待疗法，根据产科指征决定终止妊娠的方式。     

胎儿期心律失常的诊断及其对新生儿预后的影响

目的了解胎儿期心律失常的诊断方法、临床意义及对新生儿预后的影响。方法选择2004年6月至2006年1月于浙江大学医学院附属妇产科医院产前检查中发现胎儿心律失常孕妇57例,分析孕妇病史、胎儿心电图、胎儿超声心动图、妊娠结局。结果胎儿心律失常中胎儿心动过速、胎儿心动过缓和不规则胎儿心律的构成比分别为17.4%、4.3%和78.3%。首次发现胎儿心律失常的孕周及胎儿心律失常的类型与新生儿预后没有显著关联。持续发作心律失常的胎儿,其预后显著差于偶发心律失常的胎儿。经期待疗法,孕期胎儿心率恢复正常的有21例(36.8%),出生后新生儿心率迅速恢复正常的有15例(26.3%),经对症治疗后有14例新生儿恢复正常心率(24.6%)。发现4例(7.0%)胎儿心脏结构异常。59.7%的孕妇合并产科并发症。结论大部分心律失常的胎儿预后良好,在临床上可以密切随访,可在分娩前或出生后恢复正常心率;与胎儿预后不良有关的因素为持续发作心律失常、胎儿伴有水肿。     

胎儿心律失常的超声心动图检测及其临床意义

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。方法 采用超声心动图对725例胎龄16-41周临床疑诊为心律失常或存在其他异常的胎儿进行检测。结果 共检出胎儿心律失常90例。其中,期前收缩72例(房性期前收缩65例,室性期前收缩7例),心动过缓9例,心动过速6例,2:1房室传导阻滞2例,心房扑动1例。4例心动过缓胎儿并发先天性心血管畸形患者,2例在随访过程中死于宫内(尸体解剖证实为单心室伴肺动脉瓣狭窄1例,心脏横纹肌瘤1例),2例终止妊娠(尸体解剖证实为二尖瓣闭锁1例,共同房室通道1例)。1例胎龄38周心房扑动胎儿经吸氧及严密监护24h后,心律失常无缓解,立即行剖宫产术,出生后应用西地兰后心律转为窦性。其余85例胎儿心律失常均为阵发性,不伴有胎儿心脏形态、结构畸形及胎儿水肿,均足月出生,出生后听诊均未闻及心脏杂音及心律失常。结论 胎儿超声心动图是产前检查胎儿心律失常的可靠的无创性影像技术,其应用有助于早期检出并指导心律失常胎儿的处理。     

Prenatal diagnosis of arrhythmias and conduction disturbances

OBJECTIVES AND DESIGN: Cardiac arrhythmias are one of the most frequent indications for the fetal echocardiographic assessment. The objective of this work is to present our own results of diagnosing and treating the fetuses with arrhythmias. MATERIALS AND METHODS: The 1485 prenatal echocardiographic examinations were performed in 1302 fetuses. The 109 of fetuses suffered from arrhythmias. RESULTS: 68 fetuses (62.8%) in the analysed group presented with arrhythmias in the form of extra-systoles, 19 fetuses (17.4%) with tachycardia and 22 (20.2%) with a complete atrioventricular block. CONCLUSIONS: We concluded, that arrhythmias can be diagnosed precisely in the early prenatal period, which enables the introduction of the adequate pharmacological treatment and the coexistence of the fetal complete a-v block and structural heart defect in a fetus is associated with poor prognosis.     

Fetal complete heart block: antenatal diagnosis, significance and management

Complete heart block was diagnosed prenatally in 21 fetuses. Associated structural cardiac defects were present in 18 fetuses, in particular complete atrioventricular canal with atrial isomerism (5 cases), and 'corrected' transposition of the great arteries (4 cases). Maternal systemic lupus erythematosus was proved in only one case. In 11 fetuses, intra-uterine congestive heart failure with the signs of non-immune hydrops fetalis occurred. In all 11 fetuses, the hydrops was associated with a cardiac defect, in particular complete atrioventricular canal with atrial isomerism in 5 cases. A review of the literature confirms that only the association of complete heart block and cardiac malformation can cause intra-uterine congestive heart failure, whereas in the case of fetal complete heart block without cardiac malformation or with prenatally hemodynamically insignificant cardiac malformation, congestive heart failure is rare. Only 30% of newborns with complete heart block have associated cardiac malformations. In our series, however, 86% of the fetuses with complete heart block had cardiac malformations. The most important reason for this percentage discrepancy is that almost all fetuses with associated severe cardiac defects, in particular atrioventricular canal defects, develop heart failure which frequently results in prenatal death. Thus, fetal deaths are not included in pediatric statistics. Nevertheless, fetuses with isolated complete heart block generally do not develop heart failure and in almost all of the cases are born alive.     

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.     

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.     

Prenatally diagnosed fetal lung lesions with associated conotruncal heart defects: is there a genetic association?

Congenital lung malformation can easily be diagnosed by prenatal ultrasound. Associated extrapulmonary malformations such as heart defects and chromosomal aberrations are rare.OBJECTIVE: The objective of this study was to describe the natural history, outcome and other associated malformations in fetuses with lung lesions and an associated heart defect. METHODS: Retrospective analysis of 4 cases of prenatally diagnosed fetal CCAMs and hybrid lesions with an associated heart defect and review of 8 cases in the literature. RESULTS: At a single referral center 1.9% of the fetuses with Congenital cystic adenomatoid malformation (CCAM) were diagnosed with an associated heart defect. Seven of the total 12 cases (58%) reviewed had a conotruncal heart abnormality. Chromosomal abnormalities were found in 5 (42%) of the cases. CONCLUSION: This retrospective review shows that karyotyping in fetal lung lesions with an associated heart defect or isolated large lung lesions is indicated. It also suggests that there is a subpopulation of fetuses with CCAMs who have conotruncal heart defects. This finding may suggest a common genetic background.     

A case series of neonatal arrhythmias

Objective: Neonatal arrhythmias (NAs) are defined as abnormal heart rates in the neonatal period. They may occur as a result of various cardiovascular, systemic and metabolic problems.

Methods: A retrospective chart review was performed on newborns who were diagnosed with NA during hospitalization in a neonatal intensive care unit (NICU), or who were admitted to the NICU because of an arrhythmia diagnosis in two NICUs in Turkey from May 2011 to June 2013.

Results: Seventeen neonates with arrhythmias were identified. The incidence of NA was 0.4% and 0.3% in the two NICUs, and was 0.37% in the study population as a whole. Mean gestational age was 37 (29–40) weeks. Nine of the infants (53%) were diagnosed with fetal arrhythmia (FA) during the last week of gestation. The distribution of NA types was as follows: six (35%) supraventricular tachycardia (SVT), six (35%) premature atrial contractions (PACs), two (11%) premature ventricular contractions (PVCs), two (11%) multiple arrhythmias such as SVT?+?PAC and AV block?+?PVC, and one (5%) AV block. Wolff–Parkinson–White syndrome was present in one patient. An association of NA with congenital heart malformations was identified in five cases.

Conclusions: Cardiac arrhythmias are important causes of infant morbidity, and an occasional cause of infant mortality if undiagnosed and untreated. It is important for the physician to be aware of the etiology, development and natural history of arrhythmias in the fetal and neonatal period.     

Antenatal diagnosis of congenital heart diseases and fetal arrhythmias

Fetal echocardiographic, electrocardiographic, and pulsed Doppler ultrasonic examinations were performed to detect congenital heart anomalies and fetal arrhythmias antenatally, from April 1980 to March 1985. In nineteen subjects, these techniques revealed premature atrial contractions (PAC) in five fetuses, PAC and blocked PAC in two, PAC and premature ventricular contraction (PVC) in one, PAC, blocked PAC and PVC in one, sinus bradycardia in one, congenital complete atrio-ventricular block in one, atrial septal defect with PAC and PVC in one, fetal unilateral hydronephrosis with PAC and PVC in one, complicated heart anomalies with dilated colon in one, single atrium and ventricle with esophageal and anal atresiae in one, complicated heart anomalies with encephalocele and single umbilical artery in one, and asymmetrical septal hypertrophy in one, antenatally. In nine out of fifteen cases with fetal arrhythmias, the arrhythmia resolved within the first month of life. Sustained arrhythmias occurred in three cases. In three cases with fetal arrhythmias, in utero therapies with Coenzyme Q10(CoQ10) were performed, and anti-arrhythmic effects of CoQ10 recognized. Deaths occurred in three cases with complicated heart anomalies.     

The evaluation of cardiac biometry in major cardiac defects detected in early pregnancy

The objective was to evaluate early cardiac biometry in fetuses with structural cardiac defects between 10 and 17 weeks of gestation using our normative data about fetal heart biometry. A retrospective case series, patients were selected from all cases with congenital heart disease diagnosed between 10 and 17 weeks of gestation in our prenatal unit between 1999 and 2000. A schematic sonographic examination, including nuchal translucency (NT) thickness measurements, was performed and was followed by fetal Doppler echocardiography. The transversal heart diameter, both ventricular dimensions, heart area, heart circumference, thoracic diameter, thoracic circumference, thoracic area, pulmonary trunk diameter and aortic diameter were measured and the cardiothoracic ratios were calculated. Doppler evaluation of the umbilical arteries, ductus venosus and umbilical vein was performed. Fetal karyotyping was obtained by amniocentesis or chorionic villous sampling. During the study period, 31 cases of congenital heart disease between 10 and 17 weeks of gestation were diagnosed. Of these, two fetuses presented with ectopia cordis and six with insufficient cardiac biometric measurements. In the remaining 23 fetuses, different complex abnormalities with a high rate of chromosomal abnormalities (91%) were present. Fetal heart biometry was normal in 22% and abnormal in 78%. NT thickness measurements were performed before 14 weeks of gestation and ten of 12 fetuses (83%) presented with an increased NT. Both fetuses with normal NT showed an abnormal fetal heart biometry. Venous Doppler evaluation was performed in 22 cases and 12 fetuses (55%) demonstrated an abnormal venous Doppler. There were ten fetuses (45%) with normal venous Doppler; in seven of these cases, fetal heart biometry was partly abnormal. This study shows the feasibility of first and early second trimesters' fetal echocardiography and the applicability of cardiac biometry in these instances. In this context, early fetal heart biometry and NT thickness measurements may be complementary methods for the prenatal diagnosis of some major congenital heart defects. In early pregnancy, some cardiac defects like tricuspid valve dysplasia, coarctation of the aorta, aortic stenosis, tetralogy of Fallot or pulmonary stenosis may already show similar changes in the relation of the diameters of the fetal heart and great arteries, as seen in the second trimester. Therefore, evaluating the different cardiac ratios may have a high diagnostic value in early pregnancy.     

Heart defects and other anomalies in fetuses conceived by assisted reproduction techniques

AIM: The aim of the work was to evaluate the frequency of occurrence of structural, chromosome defects and developmental disorders in fetuses conceived with the help of different assisted reproduction techniques. MATERIAL AND METHODS: The research group consisted of 30 patients, aged from 25 to 37, subjected to various techniques of assisted reproduction from 2003 to 2006, who reported for consultation in the referral centre. 13 (43%) of the patients underwent the IVF procedure, 12 (40%) the ICSI procedure, 5 patients underwent interuterine insemination. Ultrasonographic examination with the evaluation of the fetal heart was conducted on average in the 22nd week of gestation. RESULTS: Multiple pregnancies constituted 14 (47%) of the examined pregnancies. In total, fetal anomalies were diagnosed in 3 fetuses (6%). Cardiovascular anomalies occurred in 2 fetuses (atrioventricular septal defect--AVSD and ventricular septal defect--VSD), each with diagnosed trisomy of chromosome pairs 21 and 18 respectively. In one case an anomaly within the urinary system was diagnosed. CONCLUSIONS: Multiple pregnancies constituted nearly half of the researched group. Structural defects were diagnosed in 3 (6%) fetuses, which slightly exceeds population risk. A higher anomaly percentage occurred in fetuses from twin pregnancies and in the group after ICSI. In the study the risk is related to the selected group of patient undergoing fetal echocardiography exam. To estimate the risk in the ART group precisely, all pregnancies conceived with implementation of ART should be examined. Multi-centre studies are our future goal.     

Intrapartum fetal cardiac arrhythmias.

Fifteen cases of fetal cardiac arrhythmia were detected by direct fetal electrocardiogram (FECG) during intrapartum fetal monitoring. The frequency of arrhythmia of 12.4/1000 monitored births. Thirteen of the arrhythmias were supraventricular. Atrial bigeminy was the most commonly observed arrhythmia, followed by atrial trigeminy. Two cases of ventricular arrhythmia were noted, one of which was a case of ventricular tachycardia. Arrhythmias were not related to drug treatment or to stage of labor. Variable decelerations occurred in association with arrhythmias in 73% of the cases. There were no nuchal cords seen at delivery, nor were there any instances of intrapartum fetal distress, fetal acidosis, or low Apgar scores associated with any arrhythmia. All arrhythmias resolved spontaneously without treatment. The neonatal course was uncomplicated in all cases. Intrapartum fetal arrhythmia is best detected by direct FECG. Appropriate management should include close observation for ominous fetal heart rate (FHR) patterns and fetal acid-base-studies. At present, there is no indication for drug treatment of intrapartum arrhythmia.     

The role of fetal echocardiography and genetic sonography in prenatal diagnosis of the Edward's syndrome--analysis of the thirty case diagnosed at the Department of the Diagnosis for Fetal Malformations at the Institute "Polish Mother's Memorial Hospital."

OBJECTIVE: Trisomy 18 (Edward's syndrome) is one of the most common chromosomal aberration in fetuses/neonates. The aim of our study was to assess the usefulness of the fetal echocardiography and genetic sonography in prenatal diagnosis trisomy 18 (retrospective analysis). MATERIAL AND METHOD: Between 1994-2000 at the Institute "Polish Mother's Memorial Hospital" 30 cases of trisomy 18 were diagnosed. RESULTS: Every fetus/neonate presented with congenital anomalies. The most common were: intrauterine growth retardation (96%) and congenital heart defects (92%). CONCLUSIONS: Retrospective analysis indicates the great role of "genetic sonography" and fetal echocardiography in prenatal diagnosis of trisomy 18.     

First-trimester nuchal translucency measurement and echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18

BACKGROUND: Trisomy 18, the second most common autosomal trisomy, has the highest incidence of congenital heart disease of all chromosomal abnormalities. This study assessed the use of nuchal translucency (NT) measurement and fetal echocardiography at 16 to 18 weeks of gestation in prenatal detection for trisomy 18. METHODS: Screening for chromosomal aneuploidy using fetal NT measurement was performed at 10 to 14 weeks of gestation. Detailed fetal echocardiography was performed at 16 to 18 weeks of gestation immediately before genetic amniocentesis for fetal karyotyping in singleton pregnancies with increased fetal NT thickness. RESULTS: Of the 3151 singleton pregnancies included in our study, 171 cases (5.4%) of increased (> or =3.0 mm) NT were noted. Fetal chromosomal abnormalities were identified in 22 (12.9%) of these pregnancies, including 9 with trisomy 21, 5 with trisomy 18, 4 with 45,X and 4 with unbalanced structural abnormalities. Major defects of the heart and the great arteries were identified in 13 (7.6%) of these pregnancies with increased NT. These included eight pregnancies that also had the diagnosis of chromosomal aneuploidy. Among the 22 fetuses with confirmed aneuploidy, all 5 fetuses with trisomy 18, 1 of the 4 fetuses with 45,X and 2 of the 9 fetuses with trisomy 21 had increased fetal NT thickness associated with abnormal fetal echocardiography findings. CONCLUSIONS: Screening for Down syndrome and cardiac defects using first-trimester fetal NT measurement in combination with fetal echocardiography at 16 to 18 weeks of gestation is a feasible and sensitive procedure for the prenatal detection of trisomy 18.     

Detection of congenital heart defects throughout pregnancy; impact of first trimester ultrasound screening for cardiac abnormalities

Objective: To evaluate prospectively the efficacy to screen for congenital heart defects (CHD) during the first trimester nuchal translucency (NT) ultrasound examination by assessing the four chambers’ view of fetal heart. Methods: Pregnancies that were examined prospectively by ultrasound in the first trimester (11th–14th week), the second (19th–24th week) and third trimester were included in the study. 3774 fetuses were examined and fetal heart was assessed during the NT scan by examining the four chambers view. Detailed echocardiography was performed during the anomaly and growth scans. Diagnosis of congenital heart defects (CHD) was further confirmed by a fetal cardiologist. Results: The four chambers view was obtained in 99.52% of the cases. CHD were diagnosed in 29 fetuses (0.77%). Thirteen cases (44.8%) were detected during the 11–13 weeks’ scan, 14 cases (48.3%) during the anomaly scan, 1 CHD (3.5%) during the third trimester scan and 1 case (3.5%) postpartum. Conclusion: Assessment of the four chambers of fetal heart early in pregnancy was feasible and allowed the detection of 45% of CHD. Additional parameters of fetal cardiac anatomy during the NT scan may further improve the detection rate providing pregnancy management information early in the first trimester.     

Congenital complete heart block: fetal management protocol, review of the literature, and report of the smallest successful pacemaker implantation.

Fetuses with complete heart block have an increased mortality with most deaths occurring in utero or during infancy. The cardiac evaluation of these fetuses is difficult since the ventricular rate is low and the heart is dilated. We have implemented a strategy that includes the biophysical profile, which assesses fetal well-being, in combination with the cardiovascular profile that assesses cardiac function and the circulation. We present two cases of fetal complete heart block in which early delivery was recommended due to worsening cardiovascular profile scores. Biophysical profile scores were normal. Both babies were successfully treated, despite having risk factors that predicted poor outcomes. We hypothesize that our management protocol initiated intervention before fetal compromise, hydrops, and myocardial damage occurred. We recommend an evaluation of heart function in addition to an assessment of fetal well-being in fetuses with complete heart block. Early delivery should be considered if there is evidence of distress and/or deteriorating cardiac function.     

52例先天性心脏病胎儿产前诊断及临床分析

目的通过心脏畸形胎儿产前诊断及临床预后评分评估为先天性心脏病胎儿遗传咨询及临床分析提供更多依据。方法收集2018年4月至2019年10月因胎儿心脏畸形来怀化市妇幼保健院产前诊断中心就诊的52例孕妇临床资料。通过产前诊断获得标本并行染色体核型及CMA检测。结果52例心脏畸形胎儿中染色体核型异常为13.46%(7/52),核型正常的胎儿中有5例检出拷贝数变异(copy number variation,CNV),检出率为9.6%(5/52)。40例染色体核型及微阵列分析均正常的胎儿中,按出生缺陷临床预后评分体系评分。其中0分Ⅰ级正常变异9例,均继续妊娠;1~3分Ⅱ级者共17例,继续妊娠16例;4~6分Ⅲ级者共11例,继续妊娠3例;7~9分Ⅳ级者3例,均引产。40例中继续妊娠28例。结论胎儿先天性心脏病与遗传因素相关,需行产前诊断,排除遗传因素后行临床预后评分评估,对临床分析及围产期管理,改善胎儿预后,提高我国出生人口质量起到重要的作用。