The role of genetic counseling in the management of prenatally detected congenital heart defects

Genetic counseling should be used in the context of prenatal diagnosis of congenital heart defects for several reasons. The insight gathered through the family history, review of ultrasound findings, and chromosome analysis may help to determine the origin of the defect, such that more precise information about prognosis and recurrence risks can be given. This information should be used by the patient to consider options for the current pregnancy and management of future ones. The difficult and emotionally charged decisions that come with prenatal diagnosis of congenital heart defects demand that the psychosocial burden be explored with the patient. Genetic counseling should facilitate the decision-making process and address patient needs. Genetic counselors have the training, experience, and time to focus on these elements. The role of genetic counseling in congenital heart defects is likely to increase as advances in understanding the underlying genetic causes are made and incorporated into patient care and counseling. Genetic counseling for this indication will become more common as prenatal detection improves and as more affected individuals live to reproductive age.     

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.     

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.     

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.     

Latest advances in fetal echocardiography

Cardiac anomalies are the most commonly overlooked defects in prenatal ultrasound assessment. The issue of missed prenatal diagnosis is disturbing, particularly when it occurs against a background of tremendous skill and technologic support. New policies to minimize mistakes in this critical aspect need to reach a consensus. Recent new strategies should be put in place in a multidisciplinary manner if they are to have a significant clinical impact. Particularly relevant are the strategies to improve prenatal diagnosis of congenital heart defects, to advance gestational age at diagnosis, to identify new prenatal markers of heart defects and to incorporate new tools in the field of fetal echocardiography. As a result of these advances, the prenatal detection and diagnosis of coronary heart disease has developed an increasing impact on the perinatal outcome of pregnancies complicated by fetal heart disease. We review some of the recent developments in this multidisciplinary area.     

Routine screening with fetal echocardiography for prenatal diagnosis of congenital heart disease

Congenital cardiac anomalies are the most common congenital anomalies, occurring in approximately eight of 1000 live births. Proper perinatal and neonatal management is dependent upon accurate prenatal diagnosis. Approximately 10% of fetuses with cardiac abnormalities have identified risk factors; hence, most of the anomalies occur in pregnancies without prenatal risk factors. The application of detailed fetal echocardiography for prenatal screening, at present reserved mainly for high-risk cases, requires further evaluation before being recommended for the general population.

This article presents our experience of evaluating the accuracy of fetal echocardiography as a screening method in detecting cardiac anomalies in the general population of Singapore. We reviewed data from 39 808 pregnant women who received antenatal care at the National University Hospital, Singapore, between January 1986 and December 1994, and who underwent routine fetal echocardiography at 21-22 weeks of gestation. We identified 294 cases of congenital heart defects by fetal echocardiography. We obtained a sensitivity of 85.4% for the detection of congenital heart disease, and a specificity of 99.9% to rule out such anomalies. Our positive and negative predictive rates were 87.7% and 99.9%, respectively.

We recommend routine screening by echocardiography of all pregnancies at 21-22 weeks of gestation, irrespective of risk stratifcation, for the prenatal detection of cardiac anomalies, in order to improve perinatal management.     

Does nuchal translucency have a role in fetal cardiac screening?

Increased nuchal translucency is the strongest single marker for chromosomal abnormality. Consequently, it is currently becoming established as the foundation of most early screening programmes for Down syndrome. In the absence of chromosomal abnormality, increased nuchal translucency has been shown to be associated with other congenital anomalies including cardiac defects. Several datasets have now reported this association and here these are reviewed to assess the effectiveness of nuchal translucency measurement as a screening tool for the prenatal detection of congenital heart disease.     

Syndromes and disorders associated with omphalocele (II): OEIS complex and Pentalogy of Cantrell

Omphalocele-exstrophy-imperforate anus-spinal defects (OEIS) complex is characterized by a combination of omphalocele, exstrophy of the bladder, an imperforate anus, and spinal defects. Pentalogy of Cantrell is characterized by a combination of a midline supraumbilical abdominal wall defect, a defect of the lower sternum, a defect of the diaphragmatic pericardium, a deficiency of the anterior diaphragm, and congenital cardiac anomalies. This article provides a comprehensive review of OEIS complex and pentalogy of Cantrell, including the pathogenesis, prenatal diagnosis, differential diagnosis, and associated malformations. Omphalocele is an important sonographic marker for OEIS complex and pentalogy of Cantrell. Prenatal detection of an abdominal wall defect associated with multiple midline defects should alert one to the possibility of OEIS complex and pentalogy of Cantrell and prompt the genetic investigation and counseling of the disorders.     

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.     

胎儿染色体结构和数目异常的遗传咨询和处理决策

染色体病分为染色体数目异常和结构异常。对于染色体数目异常尤其是常染色体数目异常的胎儿,建议终止妊娠。胎儿染色体核型为非平衡性结构异常者,因有遗传物质的缺失或重复,故建议终止妊娠;而平衡性遗传性结构异常因胎儿的核型遗传自夫妇之一,通常为表型正常的携带者,另外,夫妇一方有染色体异常时,再次妊娠时流产和生育畸形儿的风险较高,所以建议患者继续妊娠。平衡性非遗传性结构异常大多数情况为表型正常的携带者,但少数情况下有合并先天畸形的可能。     

Fetal Echocardiography Assists in Determining Optimal Delivery Site

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

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.     

Opportunities to enhance parental well-being during prenatal counseling for congenital heart disease

Prenatal diagnosis of congenital heart disease (CHD) can be a life-altering and traumatic event for expectant parents. Parental anxiety, depression, and traumatic stress are common following a prenatal cardiac diagnosis and if untreated, symptoms often persist long-term. During prenatal counseling, parents must try to manage psychological distress, navigate uncertainty, process complex medical information, and make high-stakes medical decisions for their unborn child and their family. Physicians must deliver the diagnosis, describe the expected perinatal management plan, discuss short and long-term prognoses and introduce elements of uncertainty that may exist for the particular diagnosis. Physican training in these important skills is highly variable and many in our field acknowledge the need for improved guidance on best practices for counseling and supporting parents during pregnancy and early parenthood after prenatal diagnosis, while also sustaining physicians’ own emotional well-being. We describe these challenges and the opportunities that exist to improve the current state of prenatal counseling in CHD.     

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.     

Prospects for the prenatal diagnosis and obstetric management of cloacal exstrophy. A report of two cases

Two cases of cloacal exstrophy, a rare congenital anomaly featuring exstrophy of the urinary, genital and intestinal systems, occurred. Possibilities for the prenatal diagnosis of such structural anomalies are alpha-fetoprotein screening, ultrasonography and fetal heart rate and activity patterns. Careful preoperative evaluation of affected neonates and staging of the surgical correction are recommended.     

产前超声诊断前脑无裂畸形

目的 了解产前超声诊断前脑无裂畸形(HPE)的特征,加强对此类畸形的认识. 方法回顾性分析我院2001年5月至2007年11月,产前超声诊断与疑似诊断HPE 30例,超声重点观察颅内结构、颜面部畸形及脑与面部以外的结构畸形,部分病例行染色体和产前MRI检查.结果 30例产前诊断或疑似HPE病倒中经尸检、引产后MRI或CT确诊25例,男10例,女15例;误诊5例,尸检分别为脑积水、孔洞脑和水脑.无叶型HPE 21例(产前超声与生后尸检、引产后MRI或CT一致);半叶型4例(产前MRI与产后尸检诊断).头颅大小径线改变者占83.3 0A(20/24),双顶径小于正常者占62.5%(15/24).面部以中轴部畸形多见,22例(88.0%)有面部畸形,全部有限距的变化,鼻部异常11例、中央性唇、腭裂11例.合并复杂先天性心脏病10例(40.0%).10例行脐血或羊水染色体检查,核型异常5例,其中4例有复杂先天性心脏病. 结论 产前超声检查是诊断HPE的重要方法,诊断准确率高,但对前脑无裂分型有困难,MRI对分型有肯定价值.HPE均有颅内结构异常,常伴有颜面部畸形,少数不伴有颜面部畸形.脑与面部以外的结构畸形中以复杂先天性心脏病为主.HPE与染色体异常高度相关.     

Hypoplastic left heart syndrome: prenatal diagnosis, clinical profile, and management

We diagnosed hypoplastic left heart syndrome, generally regarded as a lethal congenital heart defect, by fetal echocardiography in 20 pregnancies in the last 5 years. The clinical profile, management, and outcome of these pregnancies were reviewed. We found a 40% association of karyotype and extracardiac malformations. Elective abortion was performed in nine pregnancies. Two of seven live-born babies had early neonatal assessment and intervention as a result of in utero diagnosis and counseling. Prolonged survival was achieved in both infants. We conclude that prenatal diagnosis of the hypoplastic left heart syndrome necessitates complete evaluation of the fetus for associated genetic and extracardiac malformations. Prenatal diagnosis of this defect provides opportunities for in depth counseling of parents and obtaining informed consent for either postnatal intervention or nonintervention before the medical and emotional complexities associated with the neonatal intensive care setting are encountered.     

DiGeorge syndrome: new insights

Most patients with the clinical features of DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes share a common genetic cause, namely, a deletion of chromosome 22q11, and define the most common deletion syndrome known at this time. The clinical features of the 22q11 deletion syndrome are highly variable between individuals; some have subtle findings, whereas others are severely affected. The most common clinical features include specific types of congenital heart disease, hypocalcemia, immunodeficiency, facial dysmorphia, palate anomalies, velopharyngeal dysfunction, renal anomalies, and speech and feeding disorders as well as neurocognitive, behavioral, and psychiatric disorders. A significant number of patients with tetralogy of Fallot, truncus arteriosus, an interrupted aortic arch, isolated aortic arch anomalies, and perimembranous ventricular septal defects have a 22q11 deletion. Routine testing for a 22q11 deletion in this subset of patients should be considered to provide anticipatory medical intervention and appropriate family counseling.     

Methods in preimplantation genetic diagnosis

Preimplantation genetic diagnosis (PGD) is a new strategy, orientated toward primary prevention of congenital anomalies in couples with reproductive risk, such as advanced maternal age, carriers of chromosomal abnormalities, and carriers of monogenic conditions. For these patients, PGD is an acceptable alternative to prenatal diagnosis, mainly in those countries where pregnancy interruption is forbidden by law. PGD effectively avoids the implications linked to traditional prenatal diagnosis. Centres that provide medical servicies on reproductive biomedicine are responsible for the development and improvement of this new prevention strategy. Thanks to advances in micromanipulation techniques, associated with recent progress in molecular genetics, PGD may be employed for any genetic condition in the future.     

Cantrell's pentalogy--a case report

Pentalogy of Cantrell is a rare multiple congenital malformation syndrome characterized by a combination of features: a midline supraumbilical abdominal wall defect, a defect of the lower sternum, a defect of the diaphragmatic pericardium, deficiency of the anterior diaphragm, and congenital cardiac anomalies. This congenital defects could be diagnosed as early as in the first trimester of pregnancy. The complexity of this anomaly especially coexistent heart defects, determines the way and order of surgical treatment and commonly is a prognostic factor. A case of male newborn with prenatal diagnosed omphalocele and diaphragmatic hernia is reported in the present work. The child was operated within two hours after birth. Intraoperativelly a significant defect of diaphragmatic pericardium and heart surrounded by a small bowel were discovered. The defect of diaphragm was sutured and a drainage of left pericardial cavity was put in place. Afterwards, the abdominal wall defect was sutured after transferring organs into a peritoneal cavity. Six days after the procedure cardiac sonography was performed and it indicated the presence of hemodynamically insignificant congenital intracardiac defect--atrial septal defect. Up-to-date psychomotor development of the boy currently five months old, is correct. Prenatal diagnosis of the complexity of congenital defects and possibility of fetus condition monitoring allows to plan precisely the time and way of the delivery as well as to decide the treatment method of the newborn. Due to the absence of hemodynamic disorders and in spite of the present cardiac defect, an early surgical treatment of our patient was possible.