Spectrum and outcome of atrioventricular septal defect in fetal life

Fesslová, Vlasta; Villa, Laura; Nava, S.; Boschetto, Chiara; Redaelli, C.; Mannarino, Savina

doi:10.1017/s1047951102000045

Cited by 39 publications

(32 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…381,382 On the order of 50% to 70% of fetuses with AVSDs and normal situs have been found to have trisomy 21. 360,381,383 Conotruncal lesions and right aortic arch have been found to be associated with 22q11 deletion. In 1 fetal series, 15% to 50% of fetuses diagnosed with TOF had a 22q11 deletion.…”

Section: Genetic Abnormalities Associated With Chdmentioning

confidence: 99%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

1,020

543

View full text Add to dashboard Cite

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.

show abstract

Section: Genetic Abnormalities Associated With Chdmentioning

confidence: 99%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

1,020

543

View full text Add to dashboard Cite

show abstract

“…Many of these associations have been recognized in other previous studies. [5][6][7] Our study, however, explores these associations in greater depth (Tables 1 and 3). It is of note that some of these associations did not reach statistical significance due to our smaller sample size.…”

Section: Adverse Outcomesmentioning

confidence: 99%

“…[1][2][3][4][5] The identification of this lesion prenatally has important implications for the fetus due to the high rate of associated extracardiac malformations, such as Down syndrome or the syndromes of disturbed atrial situs. 2,4,6,7 The spectrum of AVSD in fetal life is different from that diagnosed postnatally due to the possibility of termination and in utero fetal demise. Up to 45% of those diagnosed in utero may have associated heterotaxy syndromes, particularly left atrial isomerism.…”

Section: Introductionmentioning

confidence: 99%

“…8 The recognition of this lesion has important implications for the fetus. 2,[5][6][7]9 Families can make decisions regarding elective termination and the managing physicians can effectively plan delivery and postnatal management when there is adequate knowledge of the lesion. In the setting of an unbalanced AVSD, the use of prostaglandin for pulmonary or systemic blood flow can be determined.…”

Section: Introductionmentioning

confidence: 99%

“…The mortality is higher in those with other associated cardiac abnormalities; in particular, the combination of left atrial isomerism, AVSD and congenital complete heart block, often with fetal hydrops, has a very poor prognosis with a large fetal loss. [5][6][7] We sought to further define risk factors that help in predicting outcomes for fetuses prenatally diagnosed with AVSD.…”

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations