Extracardiac anomalies, aneuploidy and growth retardation in 100 consecutive fetal congenital heart defects

Respondek, M.; Binotto, Cristiane Nogueira; Smith, Stanley K.; Donnenfeld, Alan E.; Weil, Sharon R.; Huhta, James C.

doi:10.1046/j.1469-0705.1994.04040272.x

Cited by 15 publications

(5 citation statements)

References 8 publications

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“…This rate was not statistically significant (p=0.533). Similar to our study, in the study of Respondek et al the number of fetuses with extracardiac anomaly and the number of fetuses with isolated CHD were equal in the abnormal karyotype group [33]. However, recently Qiu et al reported that abnormal karyotype increased significantly when cardiac anomalies were associated with extracardiac anomalies [34].…”

Section: Discussionsupporting

confidence: 90%

Results of karyotype analysis and 22q11.2 (DiGeorge Syndrome critical region) deletion investigation in fetal cardiac system anomalies

Emiralioğlu Çakır,

Ekin,

Koç

et al. 2023

Aegean J Obstet Gynecol

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The results of karyotype analysis and 22q11.2 ( DiGeorge Syndrome critical region) deletion investigation in fetal cardiac system anomalies Objective: We aimed to determine the presence of accompanying chromosomal anomalies and 22q11.2 deletion in patients with cardiac system anomalies. Material and Methods: In our retrospective and cross-sectional study, 99 fetuses born with cardiac anomalies were evaluated in terms of chromosomal anomalies. 36 fetuses were evaluated for 22q11.2 deletion. Fetuses who were diagnosed with prenatal congenital heart defect and underwent invasive prenatal diagnostic tests for fetal karyotyping between 01.01.2010 and 30.06.2017 at a tertiary cancer center were included in the study. Results: Of 99 cases, 48 (48.4%) had only cardiac anomalies and 51 (51.5%) had non-cardiac anomalies. Chromosomal anomalies were found in 37 (37.4%) of the cases. Autosomal trisomy 18(43.2%) and autosomal trisomy 21(32.4%) were the most common chromosomal anomalies. The study results support the strong association of chromosomal changes and cardiac malformation, especially in septal defects, atrioventricular septal defects, and conotruncal malformations. Deletion was detected in one(2.8%) of 36 cases evaluated for 22q11.2 deletion. The fetus with this deletion had isolated tetralogy of fallot and had no extracardiac anomaly. Conclusion: In cases with cardiac anomalies, isolated or accompanied by extracardiac anomalies, investigations should be made in terms of underlying chromosomal diseases in the perinatal evaluation. In addition, the investigation of 22q11.2 deletion in fetuses with conotruncal cardiac anomalies should be included in prenatal genetic examination. Keywords: DiGeorge Syndrome, Fetal Anomalies, karyotype, trisomy, 22q11.2 Deletion Syndrome

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Section: Discussionsupporting

confidence: 90%

Results of karyotype analysis and 22q11.2 (DiGeorge Syndrome critical region) deletion investigation in fetal cardiac system anomalies

Emiralioğlu Çakır,

Ekin,

Koç

et al. 2023

Aegean J Obstet Gynecol

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“…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%

Diagnosis and Treatment of Fetal Cardiac Disease

Donofrio¹,

Moon-Grady²,

Hornberger³

et al. 2014

Circulation

1,016

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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“…Prenatal CHD diagnosis allows early workup to identify chromosomal abnormalities and detailed anatomic evaluation of extracardiac malformations [19,20] , and these anomalies are significant prognostic factors [21,22] . Thus, extensive prenatal counseling can be made available regarding anticipated prenatal development and the likely postnatal treatment plans and prognosis [23,24] .…”

Section: Impact Of Fetal Echocardiography On Trends Inmentioning

confidence: 99%

Impact of Fetal Echocardiography on Trends in Disease Patterns and Outcomes of Congenital Heart Disease in a Neonatal Intensive Care Unit

Chung¹,

Lee²,

Kim³

et al. 2009

Neonatology

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Background: Congenital heart disease (CHD) is the most common developmental malformation and the leading cause of neonatal mortality and morbidity. The introduction of fetal echocardiography has made prenatal diagnosis of CHD possible. Objective: This study was conducted to investigate the impact of fetal echocardiography on the changing disease patterns and outcomes of CHD. Methods: A retrospective analysis of data from infants with CHD admitted to the neonatal intensive care unit (NICU) of the Asan Medical Center during the time periods was performed. Period I (1994–1996) was considered representative of a period before the introduction of fetal echocardiography, while period II (2004–2006) represented a period of more extensive application of fetal echocardiography. Results: A total of 164 patients were admitted to the NICU during period I and 320 during period II. The number of infants prenatally diagnosed with CHD was 5 of 164 (3.0%) in period I and 219 of 320 (68.4%) in period II (p < 0.05). The overall accuracy of fetal diagnosis was approximately 92%. Of the 3 CHD categories, there was a greater proportion of infants with ‘significant’ heart disease in period II than I (47 vs. 32%; p < 0.05). In contrast, there was a smaller proportion of infants with ‘simple’ heart defects in period II than I (22 vs. 40%; p < 0.05). The proportion of infants with ‘complex’ heart disease was similar in both periods (28% in period I and 31% in period II). The 1-year survival rate of patients with CHD has improved remarkably with time (70.1% in period I to 88.8% in period II). Multivariate analysis showed prenatal diagnosis and planned delivery in a tertiary NICU are factors affecting CHD outcomes, especially when defects are ‘complex’ (p < 0.01). Conclusion: Fetal echocardiography has resulted in an increased frequency of prenatal CHD diagnosis, has altered the disease patterns observed in the NICU, and has resulted in better 1-year outcomes.

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Extracardiac anomalies, aneuploidy and growth retardation in 100 consecutive fetal congenital heart defects

Abstract: Also, intrauterine growth retardation was more frequent in non-survivors (p < 0.05).

Cited by 15 publications

References 8 publications

Results of karyotype analysis and 22q11.2 (DiGeorge Syndrome critical region) deletion investigation in fetal cardiac system anomalies

Results of karyotype analysis and 22q11.2 (DiGeorge Syndrome critical region) deletion investigation in fetal cardiac system anomalies

Diagnosis and Treatment of Fetal Cardiac Disease

Impact of Fetal Echocardiography on Trends in Disease Patterns and Outcomes of Congenital Heart Disease in a Neonatal Intensive Care Unit

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