scholarly journals VP33.03: The diagnostic yield of prenatal genomic testing in congenital heart defects: a cohort study

2020 ◽  
Vol 56 (S1) ◽  
pp. 194-194
Author(s):  
F. Mone ◽  
B. Stott ◽  
S. Hamilton ◽  
A.N. Seale ◽  
E. Quinlan‐Jones ◽  
...  
Keyword(s):  
Cohort Study ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Diagnostic Yield ◽  
Heart Defects ◽  
Genomic Testing

scholarly journals Estimate the Frequency of Causal Genetic Variants in Fetuses With Congenital Heart Defects: a Chinese Cohort Study

2021 ◽  
Author(s):  
Fengying Lu ◽  
Peng Xue ◽  
Bin Zhang ◽  
Jing Wang ◽  
Jianbin Liu ◽  
...  
Keyword(s):  
Cohort Study ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Diagnostic Yield ◽  
Hot Spot ◽  
Isolated Heart ◽  
Heart Defects ◽  
Copy Number Variations ◽  
Considerable Proportion

Abstract Purpose: This cohort study was designed to assess the prevalence of chromosomal abnormalities in fetuses with different types of congenital heart defects (CHD).Methods: In a cohort of 200 fetuses with CHD, we performed prenatal chromosome microarray analysis (CMA) firstly, and then WES analysis was carried out on some fetuses with negative CMA results. Meanwhile, we conducted a systematic literature search on hot spot pathogenic copy number variations (CNVs) related to CHD in the Chinese population.Results: Chromosomal abnormalities were detected in 49 (24.5%) fetuses after prenatal CMA detection, including 23(11.5%) with aneuploidies and 26 (13.0%) with significant clinical CNVs. The additional diagnostic yield diagnosed by followed WES was 11.5% (6/52). The incidence of total chromosomal abnormality in the non-isolated CHD group (31.8%) was higher than that in the isolated CHD group (20.9%), mainly because the incidence of aneuploidy was significantly increased when CHD combined with extracardial structural abnormalities or soft markers. The chromosome abnormal rate of complex CHD group was higher than that of the simple CHD group, but the difference was not statistically significant (31.8% vs. 23.6%, P = 0.398). The most common CNVs detected in CHD fetuses was the 22q11.2 deletions, followed by deletions of 5p15.33p15.31, deletions of 15q13.2q13.3, deletions of 11q24.2q25, deletions of 17p13.3p13.2, duplications of 17q12.Conclusion: CMA is the recommended initial examination for cases of CHD in the prenatal setting, whether it is simple heart defects or isolated heart defect. For cases with negative CMA results, the follow-up application of WES will offer a considerable proportion of additional detection of clinical significance.

scholarly journals Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study

2022 ◽  
Vol 17 (1) ◽  
Author(s):  
Fengying Lu ◽  
Peng Xue ◽  
Bin Zhang ◽  
Jing Wang ◽  
Bin Yu ◽  
...  
Keyword(s):  
Cohort Study ◽  
Congenital Heart Defects ◽  
Chromosomal Abnormality ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Diagnostic Yield ◽  
Isolated Heart ◽  
Heart Defects ◽  
Copy Number Variations ◽  
Considerable Proportion

Abstract Background The belief that genetics plays a major role in the pathogenesis of congenital heart defects (CHD) has grown popular among clinicians. Although some studies have focused on the genetic testing of foetuses with CHD in China, the genotype–phenotype relationship has not yet been fully established, and hotspot copy number variations (CNVs) related to CHD in the Chinese population are still unclear. This cohort study aimed to assess the prevalence of chromosomal abnormalities in Chinese foetuses with different types of CHD. Results In a cohort of 200 foetuses, chromosomal abnormalities were detected in 49 (24.5%) after a prenatal chromosome microarray analysis (CMA), including 23 foetuses (11.5%) with aneuploidies and 26 (13.0%) with clinically significant CNVs. The additional diagnostic yield following whole exome sequencing (WES) was 11.5% (6/52). The incidence of total chromosomal abnormality in the non-isolated CHD group (31.8%) was higher than that in the isolated CHD group (20.9%), mainly because the incidence of aneuploidy was significantly increased when CHD was combined with extracardiac structural abnormalities or soft markers. The chromosomal abnormality rate of the complex CHD group was higher than that of the simple CHD group; however, the difference was not statistically significant (31.8% vs. 23.6%, P = 0.398). The most common CNV detected in CHD foetuses was the 22q11.2 deletion, followed by deletions of 5p15.33p15.31, deletions of 15q13.2q13.3, deletions of 11q24.2q25, deletions of 17p13.3p13.2, and duplications of 17q12. Conclusions CMA is the recommended initial examination for cases of CHD in prenatal settings, for both simple heart defects and isolated heart defects. For cases with negative CMA results, the follow-up application of WES will offer a considerable proportion of additional detection of clinical significance.

scholarly journals Prevalence of congenital heart defects in neuroblastoma patients: a cohort study and systematic review of literature

2008 ◽  
Vol 168 (9) ◽  
pp. 1081-1090 ◽  
Author(s):  
Klaartje van Engelen ◽  
Johannes H. M. Merks ◽  
Jan Lam ◽  
Leontien C. M. Kremer ◽  
Manouk Backes ◽  
...  
Keyword(s):  
Systematic Review ◽  
Cohort Study ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Review Of Literature

scholarly journals Intake of sucrose-sweetened soft beverages during pregnancy and risk of congenital heart defects (CHD) in offspring: a Norwegian pregnancy cohort study

2019 ◽  
Vol 34 (4) ◽  
pp. 383-396 ◽  
Author(s):  
Maria T. Grønning Dale ◽  
Per Magnus ◽  
Elisabeth Leirgul ◽  
Henrik Holmstrøm ◽  
Håkon K. Gjessing ◽  
...  
Keyword(s):  
Cohort Study ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Pregnancy Cohort

scholarly journals Maternal psychological distress, education, household income, and congenital heart defects: a prospective cohort study from the Japan environment and children’s study

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yasuaki Saijo ◽  
Eiji Yoshioka ◽  
Yukihiro Sato ◽  
Hiroshi Azuma ◽  
Yusuke Tanahashi ◽  
...  
Keyword(s):  
Socioeconomic Status ◽  
Cohort Study ◽  
Psychological Distress ◽  
Congenital Heart Defects ◽  
Household Income ◽  
Prospective Cohort ◽  
Congenital Heart ◽  
Maternal Education ◽  
Heart Defects ◽  
Maternal Psychological Distress

Abstract Background The influence of maternal psychological distress on infant congenital heart defects (CHDs) has not been thoroughly investigated. Furthermore, there have been no reports on the combined effect of maternal psychological distress and socioeconomic status on infant CHDs. This study aimed to examine whether maternal psychological distress, socioeconomic status, and their combinations were associated with CHD. Methods We conducted a prospective cohort study using data from the Japan Environment and Children’s Study, which recruited pregnant women between 2011 and 2014. Maternal psychological distress was evaluated using the Kessler Psychological Distress Scale in the first trimester, while maternal education and household income were evaluated in the second and third trimesters. The outcome of infant CHD was determined using the medical records at 1 month of age and/or at birth. Crude- and confounder-adjusted logistic regression analyses were performed to evaluate the association between maternal psychological distress and education and household income on infant CHD. Results A total of 93,643 pairs of mothers and infants were analyzed, with 1.1% of infants having CHDs. Maternal psychological distress had a significantly higher odds ratio in the crude analysis but not in the adjusted analysis, while maternal education and household income were statistically insignificant. In the analysis of the combination variable of lowest education and psychological distress, the P for trend was statistically significant in the crude and multivariate model excluding anti-depressant medication, but the significance disappeared in the full model (P = 0.050). Conclusions The combination of maternal psychological distress and lower education may be a possible indicator of infant CHD.

scholarly journals Congenital heart defects of fetus after maternal exposure to organic and inorganic environmental factors: a cohort study

Oncotarget ◽  
2017 ◽  
Vol 8 (59) ◽  
pp. 100717-100723
Author(s):  
Wei Gong ◽  
Qianhong Liang ◽  
Dongming Zheng ◽  
Risheng Zhong ◽  
Yunjie Wen ◽  
...  
Keyword(s):  
Cohort Study ◽  
Environmental Factors ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Maternal Exposure

scholarly journals Relationship Satisfaction Among Mothers of Children With Congenital Heart Defects: A Prospective Case-Cohort Study

2013 ◽  
Vol 38 (8) ◽  
pp. 915-926 ◽  
Author(s):  
M. T. G. Dale ◽  
O. Solberg ◽  
H. Holmstrom ◽  
M. A. Landolt ◽  
L. T. Eskedal ◽  
...  
Keyword(s):  
Cohort Study ◽  
Relationship Satisfaction ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects
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