Other genomic disorders and congenital heart disease

Lalani, Seema R.

doi:10.1002/ajmg.c.31762

Cited by 18 publications

(10 citation statements)

References 110 publications

(147 reference statements)

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“…Except for 22q11DS and 22q11.2 duplication syndrome, There were many genetic factors leading to CHD. Our study found that the following genetic disorders were related to CHD, include 1p36 monosomy, Williams-Beuren syndrome, SMS, Miller-Dieker syndrome [11]. Some CNV syndromes only have a few studies have shown that they were related to CHD.…”

Section: Discussionmentioning

confidence: 52%

Diagnostic value of CMA in different phenotypes of fetal congenital heart defects

Zhang

Pei

Wang

et al. 2022

Preprint

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Objective To evaluate the detection rate of fetal chromosomal abnormalities in congenital heart defects (CHD), further dig the potential diagnostic value of Chromosomal Microarray Analysis (CMA) technology for different phenotypes, and explore the possible genetic pathogenic factors of CHD. Methods We analyzed the CMA of 427 cases of CHD fetuses, and divided CHD into different groups according to two dimensions. According to whether they were combined with ECA, they were divided into isolated CHD and non-isolated CHD; According to the cardiac phenotype, they were divided into ten groups. The correlation between numerical chromosomal abnormalities (NCA), and copy number variations (CNVs, except likely benign and benign CNVs) with CHD was analyzed by Mantel test. Results In general, CHD with ECAs were more likely to have a genetic abnormality than those without ECAs (39.3% vs. 14.8%, P<0.05). The genetic abnormality rate of 427 fetuses was 21.8% (93/427), the detection rate of NCA was 12.9% (55/427), the most relevant were skeletal, Craniofacial, VSD, AVSD (P<0.05); and the detection rate of pCNVs was 8.9% (38/427), the most relevant were IAA, A, IAA, B, RAA, TAPVC, CoA, TOF and thymic abnormality. 22q11.2DS and had the highest detection, the detection rate of 22q11.2DS in the subgroups were IAA, B, RAA, PS, CoA, TOF and thymic abnormality. Overall analysis of cases, the CNV deletion fragment larger than 1 Mb may be pathogenic. In CNV, deletion was more likely to be pathogenic than duplication. In addition, we detected 12 CNV syndromes; among of them, 9 syndromes that may be related to CHD. gene LIMK1 and MYH11 have been identified as part of a common pathway between cardiovascular and neurological development; candidate genes are considered to be related to heart and/or involved in embryonic development, FLI1, NIPBL, DLL1, PTPN11, TBX5. Conclusion Increased risk of genetic abnormalities in non-isolated CHD; CHD phenotype most related to NCA, pCNV and 22q11.2DS was found; and 12 CNV syndromes and 7 meaningful candidate genes were detected.

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Section: Discussionmentioning

confidence: 52%

Diagnostic value of CMA in different phenotypes of fetal congenital heart defects

Zhang

Pei

Wang

et al. 2022

Preprint

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“…Except for the 22q11.2 syndrome, there are many genetic factors leading to CHDs. Our study found that the following genetic disorders were related to CHDs: 1p36 deletion syndrome, WBS, SMS and MDLS [ 31 ]. There has been limited research on some CNV syndromes, such as 16p13.11 recurrent microduplication, CES and LWD, showing they are related to CHDs.…”

Section: Discussionmentioning

confidence: 99%

Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities

et al. 2023

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(1) Background: The objective of this study was to investigate the diagnostic value of chromosomal microarray analysis (CMA) for congenital heart defects (CHDs) with different cardiac phenotypes and extracardiac abnormalities (ECAs) and to explore the pathogenic genetic factors of CHDs. (2) Methods: We collected fetuses diagnosed with CHDs by echocardiography at our hospital from January 2012 to December 2021. We analyzed the CMA results of 427 fetuses with CHDs. We then categorized the CHD into different groups according to two dimensions: different cardiac phenotypes and whether it was combined with ECAs. The correlation between the numerical chromosomal abnormalities (NCAs) and copy number variations (CNVs) with CHDs was analyzed. Statistical analyses, including Chi-square tests and t-tests, were performed on the data using IBM SPSS and GraphPad Prism. (3) Results: In general, CHDs with ECAs increased the detection rate for CA, especially the conotruncal defects. CHD combined with the thoracic and abdominal walls and skeletal, thymic and multiple ECAs, were more likely to exhibit CA. Among the CHD phenotypes, VSD and AVSD were associated with NCA, while DORV may be associated with NCA. The cardiac phenotypes associated with pCNVs were IAA (type A and B), RAA, TAPVC, CoA and TOF. In addition, IAA, B, RAA, PS, CoA and TOF were also associated with 22q11.2DS. The length distribution of the CNV was not significantly different between each CHD phenotype. We detected twelve CNV syndromes, of which six syndromes may be related to CHDs. The pregnancy outcome in this study suggests that termination of pregnancy with fetal VSD and vascular abnormality is more dependent on genetic diagnosis, whereas the outcome in other phenotypes of CHDs may be associated with other additional factors. (4) Conclusions: CMA examination for CHDs is still necessary. We should identify the existence of fetal ECAs and specific cardiac phenotypes, which are helpful for genetic counseling and prenatal diagnosis.

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“…Children with critical CHDs are at a higher risk of complications, including other birth defects and genetic disorders. [151,152] Treatment of fetuses with multiple congenital disorders present challenges to CHD intrauterine management. Rapid advances in endoscopic and fetoscopic technologies have progressed the intrauterine treatment of lethal structural anomalies, [9] and prenatal gene or stem cell therapy has been shown to be a potential option for genetic disorder treatment.…”

Section: The Future Direction Of Chd Clinical Practicementioning

confidence: 99%

The Construction of an Intrauterine Diagnosis and Treatment System and Comprehensive Lifecycle Health Service of Congenital Heart Disease: Xinhua Hospital Model

Jiang

Wang

et al. 2023

Cardiology Discovery

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With the growing influence of slow population growth and population aging, China has established the birth policy and issued a series of documents to promote maternal and fetal health and improve the birth rate. With the increase in prevalence of birth defects, timely diagnosis and intervention in utero provide possibilities to reduce unnecessary abortions and offer better prognosis. Congenital heart disease (CHD), as one of the most common congenital birth defects, is the leading cause of mortality in patients aged <5 years, and brings a heavy burden to both the affected families and society. Fetuses with CHD are associated with an increased risk of pregnancy-related complications and premature birth, and children with CHD typically face growth and developmental problems even after the correction of malformation. Therefore, management including diagnosis, treatment, and rehabilitation throughout the fetal period into childhood and even adulthood is essential for children with CHD. Based on the rapid advances in intrauterine and perinatal medicine and an in-depth collaboration among obstetrics and pediatrics, a novel diagnosis and treatment system has been established for the management of CHD in the past 2 decades in Shanghai Xinhua Hospital. This Intrauterine Diagnosis and Treatment System and Comprehensive Lifecycle Health Service of Congenital Heart Disease model provides prenatal diagnosis, intrauterine intervention, delivery room service and neonatal therapies, and postintrauterine rehabilitation for children with CHD. We have developed a four-dimensional spatiotemporal image correlation echocardiography and a three-dimensional cardiac virtual endoscopy system for the intrauterine diagnosis of CHD, dramatically raising the diagnostic utility. Our innovative and independent newborn-intervention technique has effectively reduced the re-intervention rate in patients with pulmonary atresia with intact ventricular septum and critical pulmonary stenosis. In 2018, Xinhua Hospital independently performed the case of fetal aortic valvuloplasty in Asia through a multidepartment collaborative effort. All children treated in this system achieved biventricular circulation and a better long-term postoperative outcome. We also have conducted postoperative rehabilitation therapy to promote the development and health of children with CHD. The practice of Xinhua model has reduced unnecessary abortion of CHD fetuses, reduced the mortality rate associated with critical CHD, and improved the mid- and long-term prognosis in CHD, which is essential to promote the fertility level and children’s health. Furthermore, translational medicine platform and the birth cohort Early Life Plan was constructed to explore the origins of major developmental diseases and establish an early intervention model in CHD. This practice of assessment of the intrauterine system has been expanded to other congenital defects in Xinhua Hospital, and sequential treatment of more than 2,000 cases has been completed to date. Based on practice in intrauterine management of CHD and other diseases, the concept of Intrauterine Pediatrics was proposed as a first to emphasize early prevention and intervention of childhood diseases and promote a comprehensive lifecycle service for children. The development and evolution of this system requires further attention not only from researchers but also from the government and global medical communities.

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Other genomic disorders and congenital heart disease

Cited by 18 publications

References 110 publications

Diagnostic value of CMA in different phenotypes of fetal congenital heart defects

Diagnostic value of CMA in different phenotypes of fetal congenital heart defects

Diagnostic Value of Chromosomal Microarray Analysis for Fetal Congenital Heart Defects with Different Cardiac Phenotypes and Extracardiac Abnormalities

The Construction of an Intrauterine Diagnosis and Treatment System and Comprehensive Lifecycle Health Service of Congenital Heart Disease: Xinhua Hospital Model

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