Results of in utero atrial septoplasty in fetuses with hypoplastic left heart syndrome

OBJECTIVES: Neonates with hypoplastic left heart syndrome and intact or highly restrictive atrial septum have a high rate of mortality. We sought to assess the effect of prenatal intervention intended to create atrial septal defects in fetuses with this diagnosis. METHODS: We reviewed the medical records and imaging of all fetuses undergoing intervention for atrial septal defect creation in the setting of hypoplastic left heart syndrome and intact atrial septum. The procedures were performed with a percutaneous cardiac puncture under the guidance of ultrasonography. For the 21 interventions, patient and procedural characteristics were analyzed to identify predictors of neonatal outcome. RESULTS: Of 21 procedures attempted between 24 and 34 weeks' gestation, 19 were technically successful. Fetal demise occurred in two cases. The size of the created defect varied and measured at least 3 mm in six fetuses. Among 19 neonates, a larger atrial septal defect was associated with higher oxygen saturation and less need for intervention prior to surgical single-ventricle palliation. CONCLUSIONS: Technically successful atrial septal defect creation in fetuses with hypoplastic left heart syndrome and intact atrial septum results in atrial septal defects of varying size; defects of at least 3 mm in diameter appear to confer postnatal benefit.     

Monochorionic monoamniotic twins: neonatal outcome.

BACKGROUND: Monochorionic monoamniotic twins (MoMo) occur in one of 10,000 pregnancies. Cord entanglement, malformations, twin-to-twin transfusion syndrome (TTS) and prematurity are responsible for their high perinatal morbidity and mortality. OBJECTIVE: To report our experience with 36 sets of MoMo twins (1990 to 2005) and to provide updated information for counseling. METHODS: Chorionicity was determined by placental examination, gestational age and TTS clinically and by sonography. Intrauterine growth restriction (IUGR) was diagnosed with a twin-specific nomogram. RESULTS: Cord entanglement was observed in 15 pregnancies, but only one twin with entanglement and a true knot, experienced related morbidity. Four of 71 live births were IUGR. Malformations were diagnosed prenatally (one hypoplastic left heart and one body stalk) and postnatally (one vertebral anomalies-anal atresia-tracheoesophageal fistula-renal defect (VATER) and two lung hypoplasias). Twin-to-twin transfusion syndrome affected three sets of twins. Five twin sets delivered before 31, 19 sets at 31 to 32 and 12 sets at 33 to 34 weeks. Six of 71 (8%) twins died (four malformations, one TTS and one 26 weeks premature). Head ultrasounds in 59 of 65 survivors showed two (3%) periventricular leukomalacia, five (9%) Grade I-II intraventricular hemorrhage and 52 (88%) normal. CONCLUSIONS: Monochorionic monoamniotic twins remain a group at risk for cord entanglement, congenital malformations, TTS and prematurity. Although their neonatal mortality and morbidity is high, outcomes for survival are better than anticipated.     

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.     

Congenital partial pericardial defect in a neonate: a case report

This report describes a neonate with congenital partial absence of the pericardium associated with hypoplastic left heart syndrome. The patient presented with severe heart failure caused by a hypoplastic left ventricle. The infant died at 15 hours of age because of intractable congestive heart failure. Necropsy revealed, in addition to a hypoplastic left ventricle, a transverse biventricular constriction suggestive of partial absence of the pericardium. In addition to cardiovascular malformations, a left hydronephrosis and a bicornuate uterus was found. We report a rare clinical entity and review the literature.     

Prenatal diagnostics of congenital heart disease--own results

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

Structural cardiac anomalies

Although it is unrealistic to expect that all major structural cardiac anomalies will be detected at the time of routine prenatal ultrasound, an increase in prenatal diagnosis is anticipated as accreditation of ultrasound practices takes place nationwide. Following the diagnosis of congenital heart disease, evaluation for extracardiac anomalies and chromosomal abnormalities is important because these are found in up to 62% and 38% of prenatally identified cases, respectively. Although the literature is limited, counseling parents based on the prenatal experience gives them realistic information about frequency, diagnosis, associated findings, and prognosis of the heart defect found in their fetus. A multidisciplinary team of perinatologists, pediatric cardiologists, geneticists, pediatric cardiac surgeons, and neonatologists should be assembled to assist patients in making informed decisions about their pregnancies and to establish a reasonable management plan for ongoing pregnancies with congenital heart disease.     

Antenatal diagnosis of deletion chromosome 11(q23-qter) (Jacobsen syndrome)

A case of Jacobsen syndrome, suspected antenatally on the grounds of trigonocephaly and hypoplastic left heart syndrome, is presented. Clinicians are reminded that a hypoplastic left heart should not be assumed to be an isolated malformation and that a careful search for associated malformations can facilitate the recognition of an underlying genetic syndrome.     

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.     

Outcome of infants with hypoplastic left heart and Turner syndromes

OBJECTIVE: To report the obstetric and neonatal outcomes of ten infants with hypoplastic left heart syndrome in association with Turner syndrome. METHODS: The Pediatric Cardiovascular Surgery database at the University of Michigan was searched from 1990 to 1997, and obstetric and neonatal records of neonates with hypoplastic left heart syndrome and Turner syndrome were reviewed. RESULTS: There were 406 cases of hypoplastic left heart syndrome admitted during 8 years, of which ten (2.5%) also had Turner syndrome. Nine infants were delivered at term and one at 36 weeks. The mean (+/- standard deviation [SD]) gestational age at delivery was 38 +/- 1.2 weeks, and mean (+/-SD) birth weight was 2991 +/- 438 g. Delivery was vaginal in all cases, and no infant had an Apgar score at 5 minutes less than 7. Karyotype was 45, X in seven cases, and 45, X mosaic in three. Most infants had dysmorphic features at birth. All ten infants had first-stage reconstruction surgery for hypoplastic left heart syndrome. Only two survived and underwent second-stage palliation; both are alive currently, although with significant medical problems. CONCLUSION: For infants with hypoplastic left heart and Turner syndromes, regular obstetric management appears appropriate. Although staged reconstruction surgery has improved survival for neonates with isolated hypoplastic left heart syndrome, for those with Turner syndrome, survival appears markedly reduced.     

Prenatally evolving ectopia cordis with successful surgical treatment

Ectopia cordis (EC) is a rare malformation due to failure of maturation of the midline mesodermal components of the chest and abdomen. It can be defined as a complete or partial displacement of the heart outside the thoracic cavity. It comprises 0.1% of congenital heart diseases. Common cardiac anomalies associated with EC are ventricular septal defect, atrial septal defect, and tetralogy of Fallot. EC and additional anomalies usually lead to intrauterine death. The possibility and efficacy of surgery in a surviving neonate depends on the degree of EC, coexisting congenital heart defects and extracardiac malformations. We present a case of prenatally diagnosed isolated EC diagnosed in the first half of pregnancy. After counseling, the patient decided to continue her pregnancy which ended with a newborn baby discharged from the hospital after cardiac surgery performed just after elective cesarean section.     

Neonatal cardiac surgery. Anatomic, physiologic, and technical considerations

Neonatal repair for all cardiac lesions is an attractive but as yet unattainable goal for the surgical team. We are obliged to consider both lesions that must be repaired in the absolute neonatal period, and those for which later repair is an option. This article serves as an update on some issues relating to neonatal heart surgery. The first section deals with selected general aspects of perioperative support. The second section discusses two representative lesions that illustrate many of the problems encountered in neonatal cardiac surgery: transposition of the great arteries and hypoplastic left heart syndrome.     

Analysis of etiology,chromosome and prognosis for small left heart system development in 69 fetuses

Objective: To provide a basis for evaluating the prognosis of small left heart system development in fetuses, we analyzed its related factors.

Methods: The fetal echocardiogram was performed in 3859 pregnant women, and then small left heart system development was identified in 69 fetuses. The data of prenatal and postnatal echocardiograms, postnatal cardiac surgical treatment, chromosome and autopsy after induced labor were analyzed in the 69 fetuses.

Results: Except 1320 cases losing follow-up, 2539 cases had complete data. Among the 2539 cases, small left heart system development was identified in 69 fetuses. Of the 69 fetuses, 12 had hypoplastic left heart syndrome, 20 premature closure of foramen ovale, 13 total anomalous pulmonary venous drainage, 2 common pulmonary vein lumen atresia, 21 aortic coarctation or interruption and 1 right pulmonary hypoplasia. Among the 69 fetuses, chromosome abnormality was found in 7.

Conclusion: There are many etiological factors causing small left heart system development. The prognosis is poor in the fetuses with hypoplastic left heart syndrome, common pulmonary vein lumen atresia, pulmonary hypoplasia, other malformations or/and chromosome abnormality. Fetal echocardiography combined with chromosome examination can provide important bases for making diagnosis and evaluating the prognosis regarding small left heart system development.     

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.     

Características prenatales del síndrome de Turner

AimThe presentation of Turner's syndrome in the fetus is very different from that observed postnatally. The aim of this study was to compare the pre and postnatal features of this syndrome, mainly the nature of the karyotype and the incidence and type of heart defects, and to examine outcome after prenatal diagnosis.Subjects and methodsThirty-nine fetuses with Turner's syndrome were examined echocardiographically between 1990 and 2003. Of these, 34 had a complete monosomy X (87%). In 36/39 fetuses extracardiac abnormalities were observed on ultrasound scan (92%).ResultsThe mean gestational age at echocardiographic examination was 14 weeks. A cardiac defect was detected in 15/39 (39%) fetuses. The most common diagnosis was coarctation of the aorta in 8/39 (21%) fetuses, followed by hypoplastic left heart syndrome in 5/39 (13%) fetuses. The incidence of heart defects was higher in fetuses with an abnormal ductus venosus waveform. Echocardiography was normal in the four fetuses with mosaic karyotype. The pregnancy was terminated in 33/39 (85%) cases and intrauterine death occurred in five cases (13%). There was one survivor with complete monosomy X and without gross structural abnormalities.ConclusionsMost fetuses with prenatally diagnosed Turner's syndrome have a complete monosomy X and in almost all there are abnormalities on ultrasound scan that lead to diagnosis. Compared with postnatal series, heart defects are more frequent and severe in these fetuses. All these features explain the poor prognosis associated with prenatal diagnosis of this chromosomal disorder. Fetal echocardiography allows accurate diagnosis of most heart defects. The probability of cardiac disease increases when an abnormal ductus venosus waveform is found.     

The first successful fetal aortic balloon valvuloplasty in Poland

Prenatal aortic valvuloplasty is performed only in few perinatal centers in the world. Critical aortic stenosis which can lead to hypoplastic left heart syndrome or severe fetal heart failure with nonimmune hydrops is an indication for this procedure. Prenatal intervention can change the natural course of the disease. Authors present the first successful fetal balloon aortic valvuloplasty in Poland. It was performed in a 29-week fetus with critical aortic stenosis, severe impairment of left ventricular function, heart failure and fetal hydrops. After successful intervention, without any complications, left ventricular function and fetal condition improved gradually Effective fetal intervention was possible after few months of preparation and building a team of specialists. This is the first successful fetal cardiac intervention in Poland, which opens the way to the new era of fetal cardiology and hopefully will lead to improve results in children with this critical heart defect.     

Maternal mirror syndrome after in utero aortic valve dilation. A case report

Fetal hydrops of various etiologies can be associated with maternal mirror syndrome. The exact pathophysiology of this rare disorder remains unclear, yet it can result in significant maternal and fetal morbidity. The recent advances in prenatal diagnosis and therapeutic interventions have focused on altering the course of pathologies associated with an expected poor prognosis. Severe fetal aortic valve stenosis with its potential for hypoplastic left heart fit this category. We report a case of maternal mirror syndrome in a parturient following intrauterine therapy for severe fetal aortic stenosis and hydrops. Despite a technically successful intervention, the mother required emergency cesarean section. We review the few reports of mirror syndrome as well as the current approaches to fetal aortic stenosis. This case reinforces the need for in depth risk analysis prior to fetal interventions. It also emphasizes the advantage of earlier detection and therapy with fetal aortic stenosis since fetal hydrops carries a somber prognosis.     

Associated anomalies with neural tube defects in fetal autopsies

Neural tube defects (NTD), the consequences of aberrant neural tube closure during embryogenesis, have been mostly investigated in terms of their high prevalence, rate of mortalities and serious morbidities. A proper prenatal outcome counseling of couples coming across a fetal anomaly necessitates the detection and categorization of the primer abnormality, all the co-existing malformations. The aim of this work is to study the incidence and relevance of associated malformations in order to offer a complete pathology report with a true diagnosis. In this study, among 542 fetal autopsy 62 (%11.4) cases with NTD was recorded by the Akdeniz University Pathology Department between January 2006 and June 2012. Twenty (32.4%) NTD cases were associated with anomaly. Twelve cases of associated groups consisted of a congenital syndrome/association, spondylothoracic dysplasia, amniotic band syndrome, Meckel–Gruber syndrome, schisis association. The frequency of associated NTD was 32%, this result was higher than previous reports. NTDs have a significant genetic component to their etiology that interacts with environmental risk factors, which might pose Turkey to be a country with high prevalence of NTD. We want to emphasize that intensive screening, documentation of co-existent abnormalities of NTD, should be conducted in order to exhibit certain diagnosis, to perform proper prenatal genetic counseling of parents for on-going/future pregnancies.     

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%.     

Fetal tissue typing in anticipation of neonatal heart transplantation

Background: Hypoplastic left heart syndrome is among the most common major congenital cardiac anomalies. Fetuses with this anomaly survive but require either reconstructive surgery or heart transplantation postnatally.Case: A woman whose fetus was diagnosed with hypoplastic left heart syndrome underwent funipuncture for fetal tissue typing. The fetus then was listed for heart transplantation. Once an ABO-compatible donor heart was procured, the fetus was delivered and immediately underwent transplantation.Conclusion: In candidates for neonatal heart transplantation, fetal tissue typing allows the search for an ABO-compatible donor heart to begin earlier. This approach minimizes the morbidity associated with postnatal waiting and allows transplantation to take place while the neonate is less immunocompetent.     

彩色多普勒超声心动图检测胎儿先天性心脏病

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