Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses

Song, Muguo; Hu, Amanda; Dyhamenahali, U.; Chitayat, David; Winsor, Elizabeth J.T.; Ryan, G.; Smallhorn, JF; Barrett, Jeffrey M.; Yoo, Shi Joon; Hornberger, Lisa K.

doi:10.1002/uog.6309

Cited by 103 publications

(110 citation statements)

References 11 publications

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“…Heart disease in the fetus may involve any or all aspects of the cardiac anatomy. Given that subtle lesions such as semilunar valve obstruction and coarctation of the aorta may progress 136,155 and may be clues to more important underlying extracardiac diagnoses, 194 when an abnormality is identified, a detailed assessment reduces the likelihood of missing aspects of the cardiac anatomy that may contribute critically to the surgical risks and prognosis of the lesion. All major structural CHD and many less severe forms of heart disease have been documented by fetal echocardiogram, and the accuracy of fetal echocardiography in defining specific anatomical details beyond the basic diagnosis has been demonstrated.…”

Section: Elements Of the Fetal Echocardiographic Examinationmentioning

confidence: 99%

“…356 Most of these are aneuploidies, with trisomies 21, 13, and 18 and monosomy X making up the majority. Fetuses with CHD, however, exhibit a much higher incidence of karyotype abnormalities, on the order of 30% to 40% in most series 194,[357][358][359][360][361][362] and up to 56% in selected high-risk populations. 202,363 Cardiac defects in the fetus have been associated with autosomal trisomies, many of which are not seen clinically in postnatal life, including trisomy 9, 16, and 8 and partial monosomy for chromosomes 4p, 5p, 8p, 10p, 11q, and 20, among others.…”

Section: Incidencementioning

confidence: 99%

“…It has been estimated that 70% to 85% of fetuses with isolated cardiac malformation and 25% to 65% of those with additional extracardiac abnormalities will have normal karyotype and fluorescent in situ hybridization. 194,357,369,370 These patients may benefit from microarray-based comparative genomic hybridization testing, which has been shown to detect abnormalities in an additional 5.2% (95% CI, 1.9-13.9) of fetuses with ultrasound-detected anomalies and normal karyotype. 371 Many submicroscopic chromosomal rearrangements that lead to copy-number gains or losses have been identified in fetuses with CHD through the use of comparative genetic hybridization testing.…”

Section: Incidencementioning

confidence: 99%

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Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

971

543

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Background— The goal of this statement is to review available literature and to put forth a scientific statement on the current practice of fetal cardiac medicine, including the diagnosis and management of fetal cardiovascular disease. Methods and Results— A writing group appointed by the American Heart Association reviewed the available literature pertaining to topics relevant to fetal cardiac medicine, including the diagnosis of congenital heart disease and arrhythmias, assessment of cardiac function and the cardiovascular system, and available treatment options. The American College of Cardiology/American Heart Association classification of recommendations and level of evidence for practice guidelines were applied to the current practice of fetal cardiac medicine. Recommendations relating to the specifics of fetal diagnosis, including the timing of referral for study, indications for referral, and experience suggested for performance and interpretation of studies, are presented. The components of a fetal echocardiogram are described in detail, including descriptions of the assessment of cardiac anatomy, cardiac function, and rhythm. Complementary modalities for fetal cardiac assessment are reviewed, including the use of advanced ultrasound techniques, fetal magnetic resonance imaging, and fetal magnetocardiography and electrocardiography for rhythm assessment. Models for parental counseling and a discussion of parental stress and depression assessments are reviewed. Available fetal therapies, including medical management for arrhythmias or heart failure and closed or open intervention for diseases affecting the cardiovascular system such as twin–twin transfusion syndrome, lung masses, and vascular tumors, are highlighted. Catheter-based intervention strategies to prevent the progression of disease in utero are also discussed. Recommendations for delivery planning strategies for fetuses with congenital heart disease including models based on classification of disease severity and delivery room treatment will be highlighted. Outcome assessment is reviewed to show the benefit of prenatal diagnosis and management as they affect outcome for babies with congenital heart disease. Conclusions— Fetal cardiac medicine has evolved considerably over the past 2 decades, predominantly in response to advances in imaging technology and innovations in therapies. The diagnosis of cardiac disease in the fetus is mostly made with ultrasound; however, new technologies, including 3- and 4-dimensional echocardiography, magnetic resonance imaging, and fetal electrocardiography and magnetocardiography, are available. Medical and interventional treatments for select diseases and strategies for delivery room care enable stabilization of high-risk fetuses and contribute to improved outcomes. This statement highlights what is currently known and recommended on the basis of evidence and experience in the rapidly advancing and highly specialized field of fetal cardiac care.

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Section: Elements Of the Fetal Echocardiographic Examinationmentioning

confidence: 99%

Section: Incidencementioning

confidence: 99%

Section: Incidencementioning

confidence: 99%

See 1 more Smart Citation

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

971

543

View full text Add to dashboard Cite

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“…This may have been why we did not replicate previous reports of elevated prevalence of gastrointestinal anomalies.18,20 The most common anomalies we encountered involved the genitourinary and musculoskeletal systems, consistent with some previous reports. 18,19 A novel finding of our study is the high prevalence of several late-onset conditions in the syndromic group, comparable to that in 22q11DS and greater than that reported in the general population for seizures (4%-10%), ADD (5%), schizophrenia (1%), and thyroid dysfunction (1%-5%).22-25 The etiology of thyroid dysfunction in our sample is unknown, with possibilities including common autoimmune abnormalities or faulty neural crestderived thyroid glandular cells.26,27 Almost all subjects in the syndromic and nonsyndromic groups had reparative cardiac surgery, performed at a similar age (ie, at a similar era) in both groups. Although multifactorial in nature, the high prevalence of neuropsychiatric conditions in the syndromic group is not likely related to cardiac surgery alone.…”

Section: Discussionmentioning

confidence: 99%

Patterns of cardiac and extracardiac anomalies in adults with tetralogy of Fallot

Piran

Bassett

Grewal

et al. 2011

American Heart Journal

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“…[14][15][16] The vast majority of infants born with an AVSD also have DS [11][12][13][17][18][19][20][21] ; however, DS is not a known risk factor for morbidity and mortality after biventricular AVSD repair. 12,22 In fact, infants with DS tend to have better outcomes after surgical repair of an AVSD compared with infants without DS.…”

mentioning

confidence: 99%

Association Between Down Syndrome and In-Hospital Death Among Children Undergoing Surgery for Congenital Heart Disease

Evans

Dharmar

Meierhenry

et al. 2014

Circ: Cardiovascular Quality and Outcomes

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Background— The prevalence of Down syndrome (DS)–affected births has increased during the past 30 years; moreover, children with DS have a higher incidence of congenital heart disease compared with their peers. Whether children with DS have better or worse outcomes after repair of congenital heart disease is unclear. We sought to identify differences in in-hospital mortality after cardiac surgery in pediatric patients with and without DS using a large national database. Methods and Results— Children aged <18 years who underwent surgical intervention for congenital heart disease were identified using the Kids’ Inpatient Database (2000, 2003, 2006, and 2009). Patients were stratified using the Risk Adjustment for Congenital Heart Surgery algorithm. A total of 4231 (8.2%) of the 51 309 patients studied had a diagnosis of DS. In-hospital death for patients with DS was significantly lower than that for patients without DS overall (1.9% versus 4.3%; P <0.05) as well as within risk categories 2 (1.0% versus 1.8%; P <0.05) and 3 (2.3% versus 5.1%; P <0.05). Multivariable logistic regression showed a lower odds of death among children with DS (odds ratio=0.60; 95% confidence interval, 0.47–0.76; P <0.05) after adjusting for Risk Adjustment for Congenital Heart Surgery risk category, premature birth, major noncardiac structural anomaly, and age. Conclusions— In this large national study, children with DS who underwent repair of congenital heart disease were more likely to survive to discharge than children without DS. Future work is needed to better understand the factors underlying these differences.

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Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses

Abstract: ObjectivesThe clinical outcome of prenatally diagnosed congenital heart defects (CHD)

Cited by 103 publications

References 11 publications

Diagnosis and Treatment of Fetal Cardiac Disease

Diagnosis and Treatment of Fetal Cardiac Disease

Patterns of cardiac and extracardiac anomalies in adults with tetralogy of Fallot

Association Between Down Syndrome and In-Hospital Death Among Children Undergoing Surgery for Congenital Heart Disease

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