Ductus venosus blood flow resistance and congenital heart defects in the second trimester

PURPOSE: To study the association between fetal cardiac defects and the presence of abnormal blood flow resistance of the ductus venosus during the second trimester of pregnancy. METHODS: This retrospective case-control study included 72 pregnancies with fetal cardiac anomalies and 267 normal pregnancies. In fetuses with cardiac anomalies, Doppler velocimetry resistances of the ductus venosus were serially determined prior to birth. The Doppler velocimetry resistances obtained from fetuses with cardiac anomalies were in turn compared with median values derived from 267 normal pregnancies to compensate for biometric bias due to gestational age. RESULTS: Among the 72 pregnancies with fetal cardiac anomalies, 26 fetuses showed isolated congenital heart disease (CHD) without nonimmune fetal hydrops (NIFH) (group A), 10 fetuses showed isolated CHD with severe heart defects, including atrioventricular valve insufficiency and consecutive cardiogenic NIHF (group B), and 36 fetuses showed chromosomal abnormalities, nonchromosomal extracardiac malformations, noncardiogenic NIHF, and fetal growth restriction summarized as nonisolated CHD (group C). Based on the pulsatility index for the vein of the ductus venosus, the area under the receiver operating characteristic (ROC) curves was 0.71, 0.73, and 0.86 for groups A, B, and C, respectively. CONCLUSION: In the 36 fetuses from group C, increased pulsatility index for vein of the ductus venosus (DVPIV) yielded a significant area under the ROC curve (0.86) with a sensitivity of 0.78 and a specificity of 0.78. Increased DVPIVs during the second trimester of pregnancy are highly correlated with fetal cardiac anomalies associated with chromosomal and extracardiac anomalies.     

Tetralogy of Fallot in the fetus in the current era.

OBJECTIVES: To compare the spectrum of tetralogy of Fallot detected recently in fetal life with that in previous reports of prenatal and postnatal experience. METHODS: All cases of tetralogy of Fallot, including those with pulmonary atresia, diagnosed between 1998 and 2005 inclusive were identified. Additional data for the 129 cases were collected, including associated congenital heart malformations, nuchal translucency measurement, karyotype and outcome. RESULTS: The most common reason for referral was a suspicion of heart malformation at the routine obstetric ultrasonography scan and referrals increased during the study period. The mean gestational age at diagnosis was 20.6 weeks. The nuchal translucency measurement was above the 95th centile in 37 (47%) of the 78 fetuses in which it had been measured, and in 19/37 of the chromosomally normal fetuses. Of 112 fetuses with chromosomal analysis, 55 (49%) had anomalies, including 22q11 microdeletion in 15. There were additional extracardiac malformations in 65/129 cases (50%) and additional cardiac malformations in 73 (57%). In 70/129 (54%) cases, the parents chose termination of pregnancy. Overall survival to date in the continuing pregnancies is 77%. CONCLUSIONS: Tetralogy of Fallot is increasingly recognized during routine fetal obstetric scanning. However, the spectrum of disease detected in the fetus remains biased towards those cases with extracardiac malformations and those with complex disease. As a result, even in the current era, the prognosis for the whole group of fetal cases under the diagnostic heading of tetralogy of Fallot continues to be much less favorable than would be expected of a postnatal series.     

Diagnosis and management of fetal cardiac anomalies: 10 years of experience at a single institution.

OBJECTIVE: To assess the diagnostic accuracy of fetal echocardiography and the outcome of cardiac malformations diagnosed in utero. DESIGN: A retrospective study. METHODS: The archives of our ultrasound laboratory were searched for fetal cardiac abnormalities in the period 1991-2001. RESULTS: Diagnosis of a fetal cardiac anomaly was made in 339 pregnancies at a mean gestational age of 26.2 weeks. Pathology or a detailed postnatal follow-up was available in 260 cases, and the prenatal diagnosis was accurate in 236 cases (91%). Discrepancies included nine false positive diagnoses (six ventricular septal defects and three coarctation of the aorta) and 15 cases in which a cardiac anomaly different from the one suspected in utero was documented. Of the 142 fetuses with isolated cardiac malformations (no extracardiac anomalies, normal chromosomes) that were delivered in our center, 114 were alive (80.2%) at a mean follow-up of 38 months (range, 1-120 months). In this group of patients, conotruncal anomalies and univentricular lesions were the most frequent types of anomaly, and had a survival rate of 87% and 57%, respectively. Hypoplastic left heart was the most frequent isolated congenital heart defect in infants that were delivered (19 cases) and it was associated with a survival rate of 37%. CONCLUSION: In expert hands, fetal echocardiography is highly accurate. The long-term prognosis of cardiac lesions diagnosed in utero is similar to that reported in series of infants diagnosed after birth. The only exception is hypoplastic left heart in which the survival rate is much lower than expected from postnatal studies.     

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.     

Venous Doppler ultrasound in 146 fetuses with congenital heart disease.

OBJECTIVE: To assess the influence of isolated congenital heart disease (CHD) on fetal venous Doppler blood flow velocity waveforms. METHODS: Doppler flow velocimetry was performed in the inferior vena cava and ductus venosus in 146 consecutive fetuses with antenatally diagnosed CHD. Gestational age ranged between 19 and 39 weeks. Fetuses with isolated CHD without non-immune hydrops fetalis (NIHF) (Group A, n = 89) were separated from seven fetuses showing isolated CHD with NIHF (Group B) and 50 cases complicated by chromosomal or other extracardiac malformations, intrauterine growth restriction or non-cardiogenic NIHF (Group C). The control group comprised 109 healthy fetuses of uncomplicated pregnancies. Individual peak velocity index for veins (PVIV) measurements were converted into their Z-scores (delta values) for statistical analysis. RESULTS: There was no statistical difference between fetuses with isolated CHD (Group A) and controls, for the delta PVIV of neither the ductus venosus nor the inferior vena cava. Statistical analysis revealed significant differences between non-isolated CHD fetuses (Group C) and controls for both vessels. However, in a separate analysis of isolated right heart malformations compared with the remaining isolated heart malformations (Groups A and B), a significant difference was observed for the ductus venosus, but not the inferior vena cava. There was an overall survival of 62%. In Group A, 58% of fetuses survived despite increased PVIV and 22% of fetuses with normal venous Doppler had an adverse outcome. All fetuses with cardiogenic NIHF (Group B) died. CONCLUSION: Doppler studies of the ductus venosus and inferior vena cava in fetuses with isolated CHD do not present sufficient alterations to be a reliable marker for screening purposes for CHD in mid-second- and third-trimester fetuses. Furthermore, venous Doppler did not predict fetal outcome in cases of isolated CHD. Abnormal venous Doppler results were mainly attributable to myocardial dysfunction and also to severe right heart obstruction even in the absence of congestive heart failure. Therefore, venous Doppler studies are clinically helpful in indirectly monitoring cardiac function in fetuses with cardiac malformations.     

Correlation between fetal cardiac diagnosis by obstetric and pediatric cardiologist sonographers and comparison with postnatal findings.

OBJECTIVE: To assess the level of agreement between obstetric and pediatric cardiologist sonographers' diagnosis of fetuses with suspected congenital heart disease and to compare this with the final postnatal diagnosis. DESIGN: We retrospectively reviewed the notes of 1037 patients undergoing fetal echocardiography over a 5-year period (1995-99) at the principal tertiary referral center for fetal cardiology in New South Wales, Australia. The median gestational age at presentation was 21 weeks (range 17-38) with 49% of the scans performed at < 21 weeks and a further 17% performed at 21-24 weeks. The accuracy of the fetal cardiac diagnosis was validated by neonatal cardiac investigation or autopsy. RESULTS: A total of 249 cases of congenital heart disease were identified antenatally during this 5-year period with the majority (84%) referred because of suspicion of a cardiac malformation during an obstetric scan. Of the 268 fetuses with congenital heart disease suspected by obstetric sonographers, 209 had confirmed cardiac defects. Complete correlation between obstetric sonographers' and pediatric cardiologists' prenatal cardiac findings was achieved in 62% of cases. There were major differences involving the atrioventricular morphology in 18% of cases and the outflow tract anatomy in 20%. Complete agreement between prenatal and postnatal diagnosis in fetuses with complex congenital heart disease was achieved in 59% of cases for obstetric sonography (17% false positive; 41% false negative) and 95% for fetal echocardiography by pediatric cardiologists (2% false positive; 5% false negative). CONCLUSIONS: Improved accuracy in diagnosis can be achieved through a pediatric cardiologist with special skills in fetal echocardiography working collaboratively with obstetric sonographers to optimize the details of diagnosis. This may influence management and counseling.     

The impact of fetal echocardiography on perinatal outcome

Fetal echocardiograms were performed in 266 gravidae over a one-year period for a variety of previously identified indications. The largest group consisted of 112 patients referred because of other family members with congenital heart disease (CHD). Of these, only one fetus had CHD. The groups with the highest incidence of CHD were those suspected on general obstetrical scan to have structural cardiac disease (50% abnormal) and those scanned after extracardiac anomalies were found (26% abnormals). Forty rhythm abnormalities were encountered, 85% isolated premature atrial extra-systoles. We conclude that fetal echocardiography should be part of the prenatal evaluation of fetuses with extracardiac anomalies and of those with nonimmune hydrops. Any fetus suspected to have an abnormality of cardiac structure from the four-chamber view of the heart usually visualized while obtaining the abdominal circumference should also be evaluated.     

Isolated ventricular septal defects detected by color Doppler imaging: evolution during fetal and first year of postnatal life.

OBJECTIVE: To evaluate the development during gestation and up to 1 year postnatally of isolated small ventricular septal defects (VSDs) not visible by gray-scale imaging and detected only on color Doppler fetal echocardiography. METHODS: This was a retrospective analysis of 146 fetuses with isolated VSDs detectable only on color Doppler echocardiography. Complete sequential gray-scale, color Doppler and spectral Doppler examination of the fetal heart were performed. The following variables were documented: site of the VSD, presence of extracardiac or chromosomal anomalies, outcome of the pregnancy and evolution of the defect up to 1 year postnatally. RESULTS: A total of 113 fetuses reached their first year of postnatal life, 23 pregnancies were terminated, there were three stillbirths/neonatal deaths, and seven were lost to follow-up. It was observed that 32.7% (n = 37) of all defects in neonates alive after 1 year closed in utero, 44.3% (n = 50) of defects closed spontaneously within the first postnatal year, and 23.0% (n = 26) of defects did not close. In all, a comparable number of perimembranous and muscular septal defects closed spontaneously in utero and during the first year of postnatal life. Among 35 fetuses with extracardiac anomalies 51.4% (n = 18) were euploid. CONCLUSION: Small VSDs, detectable only by color Doppler echocardiography, show a high spontaneous intrauterine and postnatal closure rate. These findings might be of value for prenatal parental counseling.     

Fetal Polydactyly

Records of 24 pregnancies with fetal polydactyly were reviewed for the type of polydactyly, family history, associated sonographic findings, genetic testing, and postnatal/postmortem examination findings. The importance of fetal polydactyly can be mainly elucidated by the family history and absent or associated anomalies on a specialized malformation scan. Fetal karyotyping diagnoses frequent chromosomal anomalies in about half of cases with additional malformations, and array comparative genomic hybridization may be a future means of detecting cryptic chromosomal aberrations. Syndromic disorders of monogenic origin demand a careful interdisciplinary clinical assessment for establishing a clinical diagnosis and prognosis for the outcome of the child.     

Clinical significance of persistent left superior vena cava diagnosed in fetal life.

OBJECTIVES: To determine the prevalence and clinical significance of persistent left superior vena cava (PLSVC) in fetuses with and without cardiac and extracardiac anomalies. METHODS: Charts and recorded images were reviewed from high-risk patients who underwent fetal echocardiography between January 2000 and December 2005. This retrospective study included 54 fetuses with confirmed PLSVC who were diagnosed based on the presence of an additional vessel identified to the left of the pulmonary artery in the three-vessel view of the heart. Associated congenital heart defects (CHDs), extracardiac abnormalities, including first trimester nuchal translucency (NT) thickness, and fetal/postnatal outcome were analyzed. RESULTS: Of 5,737 referrals, 5,233 had a normal heart, and PLSVC was observed in 10 of these fetuses (0.2%; Group 1). CHDs were present in 504 and PLSVC was observed in 44 of these cases (9%). In the latter group, 18/44 (41%) fetuses had heterotaxy syndrome (Group 2) where the most common structural heart defects were atrioventricular septal defect and double-outlet right ventricle. Fetuses without heterotaxy syndrome (Group 3) accounted for 26/44 (59%) cases of CHDs associated with PLSVC. In this group of fetuses the most common CHDs were left outflow tract obstructive defects and conotruncal anomalies. Increased NT was observed in 29%, without differences among the three groups. The survival rates among fetuses in Groups 1, 2 and 3 were 100%, 44% and 50%, respectively. After excluding patients who underwent pregnancy termination, there were no significant differences in the survival rates among the groups, probably due to the small size of the samples. CONCLUSIONS PLSVC is associated with CHDs. The identification of PLSVC should prompt a thorough examination of the fetus to identify additional cardiac and extracardiac anomalies. The prognosis of affected fetuses largely depends on whether or not the PLSVC is associated with a CHD.     

The association between congenital heart disease and Down syndrome in prenatal life.

OBJECTIVE: To assess the relationship between congenital heart disease (CHD) and Down syndrome (DS) in utero. DESIGN: Retrospective case series. SUBJECTS: Fifty-two fetuses with a cytogenetic diagnosis of DS managed at our Fetal Cardiology Unit in the study period. In particular, two populations of fetuses with DS were studied: a group of 41 DS fetuses referred to our unit for fetal echocardiography due to the chromosomal anomaly and a second group of 274 fetuses referred because of suspected CHD, 11 of which were found to have DS. METHODS: All fetuses were submitted to detailed ultrasound evaluation of fetal anatomy. Associated extracardiac anomalies, and presence and type of CHD, were recorded for all fetuses. Karyotyping was obtained by means of cordocentesis or amniocentesis. Necropsy or neonatal echocardiograms were sought for confirmation of the prenatal diagnosis. RESULTS: In the group of 41 fetuses with known DS, the incidence of CHD was 56% ([atrioventricular septal defect (AVSD) 44%, ventricular septal defect (VSD) 48%], the remainder having other heart defects). Conversely, considering the incidence of DS in fetuses with CHD, 43% of all AVSDs (53% of AVSD with normal visceral situs) were associated with DS, whereas none of the 39 cases of VSD was associated with trisomy 21. Ventricular septal defects were diagnosed only in fetuses referred to our center with a known diagnosis of aneuploidy. CONCLUSIONS: We have confined that more than half of the fetuses with DS bear a CHD, which is an AVSD in 44% of cases. Conversely, 43% of fetuses with an AVSD have trisomy 21. For VSDS, the situation is controversial, due to the relatively low detection level of this heart defect at the routine mid-trimester obstetric scan.     

Fetal cardiac dextroposition in the absence of an intrathoracic mass: sign of significant right lung hypoplasia.

We reviewed our experience of fetal cardiac dextroposition in the absence of an intrathoracic mass. Ten cases were found by fetal echocardiography to have a normal cardiac axis, but the heart was shifted into the right chest and the amount of right lung tissue was reduced. At birth seven of the infants had confirmed structural heart disease (70%), including three with scimitar syndrome. Two infants had additional extracardiac anomalies (20%). Seven infants born at term had clinical pulmonary hypertension with a diagnosis of right lung hypoplasia in all of them. Two neonates died owing to significant heart disease (one with scimitar syndrome and the other with hypoplastic left heart syndrome). Of the three pregnancies that were terminated, the two fetuses with autopsies had severe right lung hypoplasia. Fetal cardiac dextroposition and right pulmonary artery hypoplasia in the absence of an intrathoracic mass are important signs of right lung hypoplasia, which can be associated with significant pathologic cardiac and extracardiac conditions.     

Arterial Doppler ultrasound in 115 second- and third-trimester fetuses with congenital heart disease.

OBJECTIVE: To assess the influence of isolated congenital heart disease (CHD) on fetal arterial Doppler blood flow velocity waveforms. METHODS: Doppler flow velocimetry was performed in the umbilical artery and middle cerebral artery in 115 consecutive fetuses with antenatally diagnosed CHD. Gestational age ranged between 19 and 41 weeks. Fetuses with isolated CHD were defined as group A (n = 55), showing cardiogenic hydrops fetalis in six cases; group B included 60 cases complicated by chromosomal or non-chromosomal extracardiac malformation, uteroplacental dysfunction or non-cardiogenic non-immune hydrops fetalis. The control group comprised 100 healthy fetuses of uncomplicated pregnancies. Individual pulsatility index measurements were converted into their Z-scores (delta values) for statistical analysis. RESULTS: In regard to the umbilical artery pulsatility index, 115 fetuses with CHD showed a significantly greater (P < 0.001) difference from the normal mean for gestation (delta values) than the control group. However, 29 of the 33 cases with indices above the 95% reference interval were additionally associated with extracardiac malformations, uteroplacental dysfunction or non-cardiogenic non-immune hydrops fetalis. While fetuses with isolated CHD still showed significantly higher values than healthy fetuses (P < 0.01), only in 4 of 55 (7%) fetuses did the measured umbilical artery pulsatility index exceed the 95% reference interval. There was no significant difference from the control group, in which 4 of 100 cases showed an umbilical artery pulsatility index above the 95% reference interval. Elevated umbilical artery pulsatility indices were seen in only four cases of severe obstruction of the outflow tracts leading to reverse perfusion of the affected great artery and in one case of Ebstein's anomaly with pulmonary insufficiency. Although all four fetuses with isolated CHD and elevated umbilical artery pulsatility index died, 14 of 18 fetuses with lethal outcome had normal pulsatility index values in the umbilical artery. Investigations of the middle cerebral artery blood flow revealed no significant difference between fetuses with and without CHD or any subgroups. CONCLUSIONS: This study shows that arterial blood flow velocity waveforms in fetuses with isolated CHD do not show sufficient alterations to be of diagnostic value. Only in severe outflow tract obstructions due to a 'steal effect' or in significant insufficiencies of semilunar valves leading to an impaired 'wind-kessel function' may the special hemodynamic changes induced by CHD result in a significant increase of pulsatility index in the umbilical artery. In the majority of cases with CHD the increase of pulsatility index of umbilical arterial blood flow velocity waveforms, however, results from extracardiac anomalies, especially uteroplacental dysfunction and chromosomal abnormalities. Furthermore, umbilical artery Doppler sonography is not clinically helpful in predicting fetal outcome.     

产前超声诊断胎儿永存左上腔静脉中的价值

目的 探讨胎儿期永存左上腔静脉声像图特征及临床应用价值.方法 应用胎儿超声心动图检查3368例胎儿,检出31例胎儿永存左上腔静脉及相关畸形.结果 胎儿超声心动图显示,31例胎儿中30例合并冠状静脉窦扩张,14例合并其他心血管异常,6例合并心外畸形,4例同时合并心内外畸形.结论 永存左上腔静脉常合并先天性心脏病,胎儿预后取决于有无合并其他先天性心脏病,产前诊断永存左上腔静脉可帮助正确评估胎儿预后.     

Population-based study of antenatal detection of congenital heart disease by ultrasound examination.

OBJECTIVES: Ultrasound-based screening is widely employed for the detection of congenital malformations in utero including congenital heart disease (CHD), but there is widespread variability in the efficacy of screening programs. We aimed to evaluate current antenatal detection rates of selected congenital heart defects in Victoria. METHODS: Data were collected from the Victorian Perinatal Data Collection Unit and Birth Defects Registry. There were 631 209 births in Victoria (1993-2002), of which 4897 cases had CHD. Cases included live births, stillbirths and termination of pregnancies because of CHD. We reviewed all cases from 1999 to 2002 with atrioventricular septal defect, simple coarctation of the aorta, double-inlet or -outlet ventricle, hypoplastic left heart syndrome, simple transposition of the great arteries (TGA), tetralogy of Fallot and truncus arteriosus. Outcome measures were antenatal diagnosis, pregnancy outcome and associated malformations. RESULTS: The overall birth prevalence of CHD from 1993 to 2002 in Victoria was 7.8/1000. The antenatal detection rate for the seven selected defects from 1999 to 2002 was 52.8%. All but 4.8% of the cases had an ultrasound examination at > 13 weeks' gestation. Antenatal detection was highest for hypoplastic left heart syndrome (84.6%) and lowest for simple TGA (17.0%). CONCLUSIONS: This study shows wide variation in the antenatal detection rate of CHD in Victoria. The low antenatal detection rate of TGA, a defect that should be detected easily, demonstrates suboptimal routine obstetric anomaly scanning.     

胎儿复杂先天性心脏病超声诊断与病理解剖结果的对比研究

目的 探讨胎儿超声心动图诊断复杂先天性心脏病的临床价值.方法 对49例胎儿复杂性先天性心脏病超声诊断结果与引产后胎儿尸检心脏病理解剖结果进行对比分析.结果 产前超声诊断与病理解剖符合42例(85.71%),产前超声诊断与病例解剖结果不一致7例,其中3例产前诊断不符合,4例为不完全符合.24例合并心脏外其他畸形,9例染色体异常.结论 胎儿超声心动图诊断胎儿复杂先天性心脏病具有较高的准确性,但部分心脏畸形产前难以检出.     

64层螺旋CT三维后处理成像应用于心外结构异常诊断的特点

背景:先天性心脏病心外结构异常的超声诊断受范围限制影像学检查缺乏整体观,而多层螺旋CT检查具有直观、准确显示整体的优势.目的:探讨64层螺旋CT三维成像评价先天性心脏病心外结构异常图像质量与伪影的影响.方法:回顾性分析经手术证实的先先天性心脏病患者23例,按5级评分法分析术前心脏CT图像质量,比较CT、超声心动图及手术结果.结果与结论:①大于6岁年龄组CT图像质量优于小于6岁年龄组,有心电门控模式的图像优于无心电门控模式.②23例心外结构异常共41处,三维螺旋CT、超声心动图及二者联合诊断正确率分别为97.56%,72.97%及100%,组间比较差异有非常显著性意义(P＜0.01),说明螺旋CT诊断范围较超声心动图广,心外血管结构异常诊断准确率高,二者结合效果更好.容积再现成像较多平面成像能更准确显示心外结构异常(P＜0.01);最小密度投影成像仅适用于气管支气管结构异常诊断,表明不同的螺旋CT后三维处理成像技术对不同种类先天性心脏病心外结构异常有不同的应用优势.     

Initial Experience with Catheter Ablation Using Remote Magnetic Navigation in Adults with Complex Congenital Heart Disease and in Small Children

Background: The improved outcomes and increased availability of surgery for congenital heart disease (CHD) over the last three decades have created a small but steadily increasing subset of patients with unique needs: children and adults with complex arrhythmias in the setting of structural cardiac abnormalities. Radiofrequency catheter ablation (RFCA) in these patients, and in small children with normal cardiac anatomy, is effective but challenging. An understanding of specific anatomical and electrophysiological characteristics of these patients and the technical challenges in addressing them are critical to the success of this therapy. Tools specifically designed for intracardiac diagnosis and therapy in anatomically complex and/or small hearts remain scarce.
Aims: We report single-center results from an ongoing registry of all patients with congenital heart disease and all children with complex arrhythmias in which the Magnetic Navigation System (MNS) was used.
Results: Included in this report are 12 patients with CHD in whom 17 tachyarrhythmias were treated, and 11 pediatric patients with normal cardiac anatomy who each had a single arrhythmia. The procedures' duration and the duration of fluoroscopy time as well as arrhythmia recurrence rates were comparable to those found in previous reports of procedures performed in adults with structurally normal hearts, and the incidence of complications was quite low.
Discussion: In patients with complex congenital malformations, retrograde mapping of the pulmonary venous atrium was feasible, eliminating the need for puncture of the atrial septum, or surgically placed baffle in many cases. Moreover, the design of the catheter eliminated the need for multiple mapping and ablation catheters.
Conclusion: Our findings suggest that RFCA using the MNS for arrhythmias after surgery for congenital heart disease and in pediatric patients is safe and effective.     

Ultrasound diagnosis of bilateral cataracts in a fetus with possible cerebro-ocular congential muscular dystrophy during the routine second trimester anomaly scan

The finding of bilateral congenital cataracts in the fetus is rare. We report bilateral congenital cataracts detected during the routine second trimester anomaly scan, which subsequently were found to be associated with other congenital anomalies and the parents opted for a termination of pregnancy. At post-mortem, Muscle–Eye Brain disease or Walker–Warburg Syndrome was considered likely, which are autosomal recessive congenital muscular dystrophy disorders associated with cerebral, cerebellar, muscle and eye anomalies. On ultrasound, bilateral cataracts appear as echogenic, solid areas within the fetal orbits. The examination of the fetal face and orbits plays an important role in confirming fetal well-being antenatally. We propose that it should become a routine part of the structural survey of fetal anatomy during the obstetric anomaly scan. This is especially important in pregnancies previously affected by fetal cataracts or pregnancies at risk of rare genetic syndromes.     

Factors influencing the prenatal detection of structural congenital heart diseases.

OBJECTIVE: To assess the factors influencing the prenatal detection rate of structural congenital heart diseases (CHDs). METHODS: A retrospective study was conducted at a major obstetric hospital in Australia between 1 January 1996 and 30 June 1999. The medical records of all fetuses and infants born with CHD, except those with isolated patent ductus arteriosus or secundum atrial septal defect, were reviewed. Only pregnancies that had prenatal ultrasound scan assessments for morphological surveys were included. The following factors that may influence the detection rate were assessed: complexity of the lesions; experience of the sonographers (performance in tertiary versus non-tertiary institutions); presence of other structural or chromosomal anomalies; and maternal body mass index (BMI). RESULTS: The incidence of structural CHD in this series, excluding cases referred from other hospitals, was 7.0 per 1000 (179/25 529). Of the 179 pregnancies with CHD, 151 had prenatal ultrasound scans and were included in the study. The overall detection rate for CHDs in this series was 40.4%. The detection rate for isolated septal defects was poor (13.7%). The detection rates were significantly higher for complex lesions (54%), for lesions with concomitant septal defects (66.7%), and for lesions with abnormal four-chamber views (62.9%). The detection rate was also higher if the scan was performed in the tertiary institution, and if there were other chromosomal or structural anomalies. Maternal BMI did not affect the detection rate in the current series. Stepwise logistic regression analysis showed that three independent variables affecting the detection rate were complexity of the cardiac lesion, experience of the operator, and the detection of chromosomal anomalies. CONCLUSION: A high detection rate for major CHDs can be achieved in a screening setting but there is still room for improvement in scanning skills in the four-chamber view and great-artery analysis in both tertiary and local centers.