Fetale Heterotaxie-Syndrome

The spectrum of conditions associated with heterotaxy syndromes includes a wide variety of cardiovascular and visceral anomalies that are differently distributed amongst the two clinical variants, left and right isomerism, and which determine the intrauterine as well as the postnatal course and outcome. An exact prenatal diagnosis is therefore warranted. Important sonographic markers in heterotaxy syndromes are the associated anomalies of the situs and cardiac defects. Prenatal differentiation of the two clinical variants can be based on the anomalies, the course of the inferior vena cava and the presence of a heart block.In left isomerism, mortality is highest in the prenatal period due to frequent association with a complete heart block and subsequent intrauterine heart failure. In the postnatal period, the outcome depends mainly on the associated cardiac malformations and their ability to be corrected.In contrast, in right isomerism the mortality is highest in the postnatal period. This is mainly due to the more complex type of associated cardiac malformations.     

Situs ambiguo asociado a cardiopatía e interrupción de la vena cava inferior con continuidad de la ácigos

There is a spectrum of heterotaxic syndromes between normal organ distribution (situs solitus) and congenital conditions in which major organs are mirrored from their normal position (situs inversus). The two main modalities are left isomerism (with polysplenia) and right isomerism (with asplenia). Heterotaxic defects involve ciliary dyskinesia, hampering migration of embryonic organs and leading to malposition of thoracic and abdominal organs, complex cardiac defects, and other malformations. We present a case of prenatal echographic diagnosis of levocardia, with left-sided liver, asplenia, congenital heart disease, and interruption of the inferior vena cava with azygos continuation. Because of the malformations frequently associated with heterotaxy, the position of fetal organs should form part of routine ultrasonographic examination.     

产前超声诊断在胎儿左侧异构中的应用

目的:探讨胎儿左侧异构的产前超声征象及其诊断价值。方法:回顾分析21例产前诊断为胎儿左侧异构的病例资料,对比总结其超声征象与随访结果。结果:21例左侧异构胎儿中,内脏心脏异位16例,先天性心脏病19例(伴心脏传导阻滞5例),下腔静脉离断伴奇静脉异常连接19例,其中两种及两种以上异常诊断胎儿左侧异构的敏感性为90.5%。染色体异常3例,18三体2例,13三体1例。18例终止妊娠,1例胎死宫内,2例存活。结论:产前超声诊断胎儿左侧异构是可行的,重要超声征象是内脏心脏异位、先天性心脏病伴或不伴心脏传导阻滞、下腔静脉离断伴奇静脉异常连接,出现上述两种或两种以上异常可提高该病的诊断敏感性。     

产前超声诊断胎儿右房异构一例

本文报道产前超声诊断胎儿右房异构一例。孕妇孕24周产前超声检查发现胎儿左位心合并复杂心血管畸形(右心室双出口、房室间隔缺损、肺动脉发育不良、双侧上腔静脉、心下型完全型肺静脉异位引流)、胃泡位于腹腔右侧、中位肝、可疑无脾、腹主动脉与下腔静脉位于脊柱左侧、双侧支气管呈右侧支气管对称形态,综合考虑右房异构可能。引产后经尸体解剖证实脾脏发育不良、右房异构。右房异构常合并复杂心血管畸形,因此产前超声发现复杂心血管畸形时,应警惕右房异构的可能。右房异构病死率极高,产前诊断具有重要意义。     

Fehlbildungen des Thorax und des Abdomens

This article presents the spectrum of congenital intrathoracic and intra-abdominal malformations. In addition to a summary of epidemiological associations, prenatal observations of sonographic morphological and echocardiographic characteristics, pathogenetic hypotheses and consideration of possible associated syndromes or anomalies and comorbidities, prenatal and postnatal therapy options are also discussed.     

Postnatal outcome of fetal cardiac echogenic foci.

BACKGROUND AND PURPOSE: Cardiac echogenic foci are found frequently during fetal echocardiographic investigations and may be related to increased mineralization of the papillary muscles. However, data from postnatal follow-up are limited. This study investigated the clinical characteristics and postnatal echocardiographic findings in infants with cardiac echogenic foci identified prenatally. METHODS: Between March 1995 and April 1998, 43 fetuses were noted to have cardiac echogenic foci during the second trimester. Postnatal evaluation was completed for 20 of these 43 fetuses. No other congenital malformations were noted during the fetal stage or after birth. Postnatal echocardiography was performed from 17 months to 4 years and 7 months after birth. RESULTS: Seven (35%) infants had persistent cardiac echogenic foci. However, only one had mild mitral valve prolapse without mitral regurgitation. All fetuses had left ventricular (LV) foci and three also had right ventricular (RV) foci. One infant who had a LV focus prenatally was noted to have a RV focus on postnatal follow-up. Among the three infants with prenatal biventricular involvement, only one had biventricular involvement on postnatal follow-up. Other cardiac echogenic foci had disappeared in all infants. The probability of persistence of foci decreased with age and reached 50% at the age of 4 years and 4 months. Thereafter, cardiac echogenic foci tended to regress and only 11% of infants had persistence at the last follow-up. No significant difference was found in the rate of persistence between children with univentricular foci and those with biventricular foci. CONCLUSIONS: Although some fetal cardiac echogenic foci may persist after birth, fetal echogenic foci were not associated with significant intracardiac or extracardiac anomalies.     

Associated malformations in congenital diaphragmatic hernia

Congenital diaphragmatic hernia (CDH) is a severe neonatal anomaly. The aim of this study was to evaluate the frequency and types of malformations associated with CDH. The outcome was compared with that in newborns with CDH alone. The study included 362 fetuses and newborns at a single national center for CDH. Associated malformations and chromosomal aberrations were noted prenatally and postnatally. The neonatal outcome was assessed relative to the use of extracorporeal membrane oxygenation (ECMO) and the mortality rate. At least one associated malformation was diagnosed in 143 cases (39.5%). Altogether, 272 associated malformations were found. Only 50 (18.4%) anomalies were diagnosed antenatally. In 62 (17.1%) cases, 102 major malformations were found along with CDH, with a prenatal detection rate of 35.3%. The associated malformations were very heterogeneous, but cardiovascular malformations were the most common. Newborns with major anomalies, chromosomal aberrations, or syndromes additional to CDH had a significantly lower survival rate than newborns with an isolated CDH. Associated malformations did not affect the rate of ECMO treatment. Associated malformations in CDH are frequent and heterogeneous, and diligent and experienced antenatal and postnatal care is important.     

Dilated coronary sinus in prenatal echocardiography; identification,associations and outcome

The dilated coronary sinus (DCS) has only recently been clearly visualised in the fetus due to progress in prenatal echography. This is a retrospective study of 22 fetuses presenting with DCS revealed by prenatal echography. We report the circumstances leading to the detection of a DCS and the neonatal outcome of these fetuses. The coronary sinus was defined as dilated depending on its visualisation in cross-section from the '4 chamber' view, as well as a pseudo inter-atrial septal defect from a more posterior view. In each case the gestational age, circumstances of detection, associated anomalies and postnatal outcome are reported. The circumstances were: evaluation of a clearly identified DCS in four cases and during detailed fetal echocardiography because of suspected congenital heart disease in 18 cases. Five cases were associated with a cardiac anomaly, three with an extracardiac anomaly, six with both cardiac and extracardiac anomaly and eight were isolated. Postnatal outcome was related to the associated anomaly. In conclusion, it is important that the echography image be correctly interpreted, as a DCS often implies possible associated defects and therefore affects prognosis. When not associated with other anomalies this condition is not considered serious.     

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.     

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.     

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.     

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.     

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 enterolithiasis: prenatal sonographic and MRI diagnosis in two cases of urorectal septum malformation (URSM) sequence

OBJECTIVES: Enterolithiasis (multiple calcifications of intraluminal meconium) is a rare, prenatal ultrasonographic finding. In this study, our aim was to evaluate the prenatal diagnostic features and discuss the management of the patients. METHODS: The data of two cases of prenatally diagnosed fetal enterolithiasis were collected from ultrasound scan, magnetic resonance imaging (MRI) and neonatal or postnatal autopsy records. The findings were evaluated in both prenatal and postnatal periods. Chromosomal analysis was performed in one case. An evaluation of primary and secondary malformations was done. Coexisting anomalies were searched for via radiology, neonatal surgery and histopathology. RESULTS: Malformations in two cases (both males) with partial and complete urorectal septum malformation (URSM) sequence were described. The absence of an anal opening and presence of a fistula between the urinary and gastrointestinal tract were common findings. These features were considered as primary malformations contributing to the formation of enterolithiasis. Secondary anomalies (urinary and gastrointestinal system malformations, pulmonary hypoplasia, genital and other coexisting anomalies) were evaluated. CONCLUSIONS: The prenatal detection of enterolithiasis carries a poor prognosis. Most of the previously reported cases were invariably associated with major fetal malformations of the urinary and gastrointestinal tract. It is a warning sign for large bowel obstruction with or without enterourinary fistula. Therefore, adequate gastrointestinal and urologic studies must be undertaken after birth for the final diagnosis. There is a high mortality rate in the reported cases, mostly attributed to associated anomalies, and all survivors required neonatal surgery. It is important to differentiate the partial from the full URSM sequence because the prognosis in the partial URSM sequence is generally good, with long-term survival being common.     

Sonographic evaluation of fetal clefts of the lip, alveolus and palate

Clefts of the lip, alveolus and palate are among the most common congenital malformations. Due to their frequent combination with other structural anomalies, chromosomal defects and genetic syndromes, the prenatal diagnosis of clefts plays an important role. Furthermore, the prenatal detection of clefts enhances the parents' psychological preparation and enables the planning of postnatal management. This article reviews the occurrence, appearance and pathophysiology of these malformations as well as the different sonographic techniques used to diagnose clefts and their extent. Previously reported 2D- and 3D-techniques as well as our own recent diagnostic approach focussing on the diagnosis of isolated cleft palate are described.     

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.     

Prenatal diagnosis and management of congenital heart disease

Thirty-two fetuses were diagnosed as having congenital heart disease (CHD). The major indications for level II echocardiography other than suspected cardiac abnormalities were fetal malformations, nonimmune hydrops and cardiac arrhythmia. Only three patients had a previous history of fetal CHD. No false-abnormal diagnosis of severe CHD was made. Aortic arch anomalies represented the major diagnostic problem among the six correct but incomplete diagnoses. Sixty-one percent of the fetuses were growth retarded, thus confirming the severity of their CHD. Chromosomal anomalies and extracardiac malformations were associated in 19% and 44% of the fetuses, respectively. Obstetric management and fetal prognosis in cases of extracardiac malformations were greatly influenced by the diagnosis of CHD. The poorest perinatal outcome was associated with heart failure. The only intrauterine deaths occurred in that group, and only one neonate survived. The outcome was more favorable in neonates without other malformations or heart failure. Four of ten (40%) of those neonates survived, while the overall perinatal survival rate was 24%.     

Genetic heterogeneity and phenotypic anomalies in children with atrioventricular canal defect and tetralogy of Fallot

Tetralogy of Fallot associated with the atrioventricular canal defect has been usually reported in association with Down syndrome. The aim of the present study was to describe the cardiac aspects and the genetic anomalies in children with this association of heart defects. We identified 64 patients with atrioventricular canal defect tetralogy of Fallot. All children underwent complete cardiovascular, clinical phenotypic and genetic evaluation. A genetic syndrome or extracardiac anomalies were found in 56 patients (87.5%). Down syndrome (43 patients, 67.2%) was the most frequent genetic diagnosis. Other syndromes were 8p deletion, trisomy 13, duplication 5p, cranio-cerebello-cardiac syndrome, Cantrell syndrome, CHARGE association, VACTERL association, and DiGeorge syndrome related to maternal diabetes. No patients in our series had 22q11 deletion. Tetralogy of Fallot with extreme dextroposition of the aorta was found in seven patients (only one with Down syndrome). Additional cardiac malformations were present in 23 patients (only 11 with Down syndrome). The association between atrioventricular canal defect and tetralogy of Fallot represents a cardiac phenotype with strong genetic characteristics. For this reason, a careful genetic examination is required. Our study confirms the high prevalence of Down syndrome, but also reveals a significant genetic heterogeneity. Additional cardiac defects are prevalent in patients without Down syndrome.     

The role of prenatal diagnosis in the perinatal management of urinary tract abnormalities

The use of ultrasonography is one of the most appropriate and less invasive techniques for the identification of prenatal assessment of urinary tract anomalies. This technique is able to distinguish malformations which are not compatible with life from those which could benefit from appropriate prenatal management treatment in view of a successful outcome after birth. During the past three years, 13 cases of urinary tract anomalies were found and treated. On the basis of our experience, we believe that ultrasonography is especially indicated: to make an early diagnosis of the type of malformation; in the presence of a complex malformation, gives the physician the possibility of showing and explaining to the parents all the aspects involved in reconstructive surgery thus giving them the possibility to decide for abortion or not; to reveal latent malformations: in these cases postnatal treatment may be efficiently programmed. to prepare the mother for early cesarean section, thus avoiding the trauma of vaginal delivery in cases of high risk such as fetuses with hydronephrotic kidneys. Thus, together with more experience in the field of intrauterine microsurgery, the outlook on the future of fetuses with malformations is certainly becoming brighter.     

Prenatal diagnosis of congenital diaphragmatic hernia: an update

Congenital diaphragmatic hernia (CDH) has an incidence of approximately 1:4000 live births. Most frequently the diaphragmatic defect is a left and posterolateral (Bochdalek) one. Prenatal diagnosis is made at ultrasonography; the relevant sonographic features will be described in the paper. Cystic adenomatoid malformation of the lung (CAML), pulmonary sequestration, bronchogenic cysts, pulmonary hypoplasia/agenesia need to be considered in differential diagnosis. In some cases, diagnosis of CDH is not possible "in utero": in such cases, herniation of abdominal viscera into the thorax takes place presumably just at delivery through a small diaphragmatic defect. CDH may be associated with intrauterine growth retardation (IUGR), chromosomal abnormalities (3%) and/or other malformations (10-50%): such as Central Nervous System, digestive, cardiac and urogenital anomalies. Therefore, search of associated malformations and amniocentesis with analysis of fetal karyotype are mandatory, whenever a CDH is diagnosed. CDH is still at present characterised by a high mortality (reportedly, about 45%). Many prognostic factors have been correlated to postnatal outcome of CDH: some of them are valuable prenatally by ultrasonography. However, the role of sonography in the prediction of neonatal outcome is still controversial: in particular, although many ultrasonographic parameters have been proposed, prenatal evaluation of pulmonary hypoplasia (a crucial factor related to postnatal survival) has not proved to be very accurate so far. Nevertheless, it is undisputable that prenatal diagnosis itself represents a crucial prognostic factor for CDH, since it allows birth of the affected fetuses in 3d level Perinatologic Centres provided with a Neonatal Intensive Care Unit and Neonatal Surgery.