scholarly journals Array comparative genomic hybridization and fetal congenital heart defects: a systematic review and meta‐analysis

2015 ◽  
Vol 45 (1) ◽  
pp. 27-35 ◽  
Author(s):  
F. A. R. Jansen ◽  
Y. J. Blumenfeld ◽  
A. Fisher ◽  
J. M. Cobben ◽  
A. O. Odibo ◽  
...  
Keyword(s):  
Systematic Review ◽  
Comparative Genomic Hybridization ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Array Comparative Genomic Hybridization ◽  
Heart Defects ◽  
Meta Analysis ◽  
Comparative Genomic ◽  
Genomic Hybridization

scholarly journals Prenatal Diagnosis by Array Comparative Genomic Hybridization in Fetuses with Cardiac Abnormalities

Genes ◽  
2021 ◽  
Vol 12 (12) ◽  
pp. 2021
Author(s):  
Katarzyna Kowalczyk ◽  
Magdalena Bartnik-Głaska ◽  
Marta Smyk ◽  
Izabela Plaskota ◽  
Joanna Bernaciak ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Comparative Genomic Hybridization ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Array Cgh ◽  
Heart Diseases ◽  
Heart Defects ◽  
Comparative Genomic ◽  
Genomic Hybridization ◽  
Fetal Ultrasound

Congenital heart defects (CHDs) appear in 8–10 out of 1000 live born newborns and are one of the most common causes of deaths. In fetuses, the congenital heart defects are found even 3–5 times more often. Currently, microarray comparative genomic hybridization (array CGH) is recommended by worldwide scientific organizations as a first-line test in the prenatal diagnosis of fetuses with sonographic abnormalities, especially cardiac defects. We present the results of the application of array CGH in 484 cases with prenatally diagnosed congenital heart diseases by fetal ultrasound scanning (256 isolated CHD and 228 CHD coexisting with other malformations). We identified pathogenic aberrations and likely pathogenic genetic loci for CHD in 165 fetuses and 9 copy number variants (CNVs) of unknown clinical significance. Prenatal array-CGH is a useful method allowing the identification of all unbalanced aberrations (number and structure) with a much higher resolution than the currently applied traditional assessment techniques karyotype. Due to this ability, we identified the etiology of heart defects in 37% of cases.

scholarly journals Children Born with Congenital Heart Defects and Growth Restriction at Birth: A Systematic Review and Meta-Analysis

2020 ◽  
Vol 17 (9) ◽  
pp. 3056 ◽  
Author(s):  
Ali Ghanchi ◽  
Neil Derridj ◽  
Damien Bonnet ◽  
Nathalie Bertille ◽  
Laurent J. Salomon ◽  
...  
Keyword(s):  
Systematic Review ◽  
Congenital Heart Defects ◽  
Gestational Age ◽  
Small For Gestational Age ◽  
Congenital Heart ◽  
Heart Defects ◽  
Data Extraction ◽  
Meta Analysis ◽  
Adverse Outcomes ◽  
Growth Restriction

Newborns with congenital heart defects tend to have a higher risk of growth restriction, which can be an independent risk factor for adverse outcomes. To date, a systematic review of the relation between congenital heart defects (CHD) and growth restriction at birth, most commonly estimated by its imperfect proxy small for gestational age (SGA), has not been conducted. Objective: To conduct a systematic review and meta-analysis to estimate the proportion of children born with CHD that are small for gestational age (SGA). Methods: The search was carried out from inception until 31 March 2019 on Pubmed and Embase databases. Studies were screened and selected by two independent reviewers who used a predetermined data extraction form to obtain data from studies. Bias was assessed using the Critical Appraisal Skills Programme (CASP) checklist. The database search identified 1783 potentially relevant publications, of which 38 studies were found to be relevant to the study question. A total of 18 studies contained sufficient data for a meta-analysis, which was done using a random effects model. Results: The pooled proportion of SGA in all CHD was 20% (95% CI 16%–24%) and 14% (95% CI 13%–16%) for isolated CHD. Proportion of SGA varied across different CHD ranging from 30% (95% CI 24%–37%) for Tetralogy of Fallot to 12% (95% CI 7%–18%) for isolated atrial septal defect. The majority of studies included in the meta-analysis were population-based studies published after 2010. Conclusion: The overall proportion of SGA in all CHD was 2-fold higher whereas for isolated CHD, 1.4-fold higher than the expected proportion in the general population. Although few studies have looked at SGA for different subtypes of CHD, the observed variability of SGA by subtypes suggests that growth restriction at birth in CHD may be due to different pathophysiological mechanisms.

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