Early prenatal diagnosis of major cardiac anomalies in a high‐risk population

Gabriel, Carmen Comas; Galindo, Alberto; Martínez, Josep M.; Carrera, J. M.; Gutiérrez-Larraya, Federico; Fuente, P. de la; Puerto, B.; Borrell, Antoni

doi:10.1002/pd.372

Cited by 78 publications

(60 citation statements)

References 29 publications

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“…199 It facilitates recognition of normal and abnormal anatomy when 2D image resolution is suboptimal 199 and may be especially helpful at earlier gestational ages. 187,202 In 1 study, color-flow mapping was documented to be essential for accurate anatomic diagnosis in 29% and useful in making a complete diagnosis in an additional 47% of pregnancies. 200 In another large study, color-flow mapping was shown to be additive, particularly with the detection of AV valve insufficiency, demonstration of turbulent high-velocity jets of semilunar valve stenosis, altered ductal and distal arch flow, and septal defect shunting.…”

Section: Doppler Imagingmentioning

confidence: 99%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

973

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: Doppler Imagingmentioning

confidence: 99%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

973

543

View full text Add to dashboard Cite

show abstract

“…16 Most echocardiographers agreed that fetal echocardiography is feasible prior to 14 weeks' gestation, and when CHD is present, than chromosomal abnormality should be suspected. 6,[16][17][18][19]26,29,49 In some studies the shift from the second to the first trimester fetal echocardiography was noted. 7 They conclude that early fetal echocardiography is feasable and allows the detection of most CHD, but should be always followed by echocardiography at midgestation, because CHD vary in appearance at different stages of pregnancy and may evolve in utero with advancing gestational age.…”

Section: When To Screen: the First Or The Second Trimester?mentioning

confidence: 99%

“…[3][4][5][6]9,[23][24][25] Most cases of CHD occur in otherwise normal pregnancies, although the risk of CHD is markedly increased in aneuploidies. 6,11,20,26 It was revealed in the 1980s that fetal echocardiography could predict correctly structural malformations of the heart with the conclusion that the technique is sufficiently reliable to give an accurate prognosis in early pregnancy and provide the basis for alterations in obstetric management. 3 In a series of 1,600 pregnancies 34 cases of CHD were correctly identified by fetal Donald School Journal of Ultrasound in Obstetrics and Gynecology, Jan-Mar 2007;1(1):86-95 echocardiography with the confirmation of the diagnosis by anatomical study.…”

Section: To Screen or Not To Screen For Fetal Chd ?mentioning

confidence: 99%

“…20 Extracardiac anomalies are more frequent in the group of fetuses with CHD. 26 In a high risk group of 334 fetuses, 48 (14.4%) were diagnosed with CHD at 12 to 17 weeks of gestation, 27 (56.3%) of whom had abnormal karyotype, and 31 (64,6%) had associated extracardiac malformations. 26 In the recently published retrospective study of 9918 women who were referred for fetal echocardiography, 1191 (12%) fetuses were diagnosed with CHD, of which 46 (4%) were delivered prematurely.…”

Section: To Screen or Not To Screen For Fetal Chd ?mentioning

confidence: 99%

“…6,16-20, 26 Weiner et al performed 329 examinations between 11th and 14th weeks, 438 examinations between 14th and 16th weeks, and 777 examinations between 20th and 24th weeks of gestation. 19 Indications for the early echocardiographic scan were maternal diabetes and/or CHD in previous pregnancy.…”

Section: When To Screen: the First Or The Second Trimester?mentioning

confidence: 99%

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