Review
Health Care Sciences & Services
Sophia Livas de Morais Almeida, Luisa Tiemi Souza Tuda, Marcela Bezerra Dias, Luana Izabela Azevedo de Carvalho, Thayla Lais Lima Estevam, Ana Luiza Menezes Teles Novelleto, Edward Araujo Junior, Luciane Alves da Rocha Amorim
Summary: This study aims to identify and summarize the literature on family counseling in cases of CHD diagnosis during pregnancy, revealing the difficulties, opportunities, and challenges in effectively conducting family counseling. Most of the included studies were cross-sectional and qualitative, and all were from developed countries.
Article
Cardiac & Cardiovascular Systems
Valeria E. Duarte, Michael N. Singh
Summary: Congenital heart defects are a common type of birth defect, with an unknown underlying cause. Advances in genetics and genomics have increased our understanding of the pathogenesis of these defects. Timely diagnosis is crucial for risk assessment, surveillance, and counseling.
Article
Cardiac & Cardiovascular Systems
Athar M. Qureshi, Christopher A. Caldarone, Jennifer C. Romano, Paul J. Chai, Christopher E. Mascio, Andrew C. Glatz, Christopher J. Petit, Courtney E. McCracken, Michael S. Kelleman, George T. Nicholson, Jeffery J. Meadows, Jeff D. Zampi, Shabana Shahanavaz, Mark A. Law, Sarosh P. Batlivala, Bryan H. Goldstein
Summary: The study compared management strategies for neonates with tetralogy of Fallot and symptomatic cyanosis weighing <2.5 kg, either undergoing staged repair (SR) or primary repair (PR). Mortality and reintervention burden were high and independent of treatment strategy, but potential advantages were observed with each approach.
JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY
(2022)
Article
Genetics & Heredity
Sara M. Fitzgerald-Butt, Allison F. Schartman, Kelly Schmit, Hannah E. Ison, Benjamin M. Helm
Summary: Genetic counseling and testing are crucial for individuals with congenital heart disease, but practices and preferences among genetic counselors regarding different genetic testing strategies have not been widely explored. The survey of 112 genetic counselors revealed variations in family screening recommendations, with lower prevalence reported for apparently isolated/non-syndromic CHDs among prenatal respondents. Chromosomal microarray was the most common prioritized genetic test for both syndromic and apparently isolated/non-syndromic CHDs, although prenatal respondents had different views on the utility of FISH, karyotype, and exome/genome sequencing compared to postnatal respondents. Further studies are needed in order to standardize clinical practices for CHD genetic testing based on these findings.
JOURNAL OF GENETIC COUNSELING
(2023)
Review
Health Care Sciences & Services
Olga Maria Diz, Rocio Toro, Sergi Cesar, Olga Gomez, Georgia Sarquella-Brugada, Oscar Campuzano
Summary: Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels, with genetic variants playing a key role. High-throughput genetic technologies can help identify pathogenic factors. Early diagnosis and personalized treatment are crucial due to the high incidence and associated complications.
JOURNAL OF PERSONALIZED MEDICINE
(2021)
Article
Biology
Fei Liang, Bo Wang, Juan Geng, Guoling You, Jingjing Fa, Min Zhang, Hunying Sun, Huiwen Chen, Qihua Fu, Xiaoqing Zhang, Zhen Zhang
Summary: Chromosome 4q deletion is common in congenital heart disease patients, and the SORBS2 gene within this interval plays a role in SHF development, with its variants contributing to CHD pathogenesis. Knockdown of SORBS2 in human embryonic stem cells causes cardiomyocyte differentiation defects, which can be rescued by exogenous SHH, and Sorbs2(-/-) mouse mutants exhibit atrial septal anomalies associated with paradoxical thromboembolism.
Article
Pediatrics
Danielle S. Burstein, J. William Gaynor, Heather Griffis, Alyssa Ritter, Matthew J. O'Connor, Joseph W. Rossano, Kimberly Y. Lin, Rebecca C. Ahrens-Nicklas
Summary: This study found that increased genetic variant burden, including pathogenic variants and variants of unknown significance (VUS), is associated with worse clinical outcomes in dilated cardiomyopathy (DCM) but not in hypertrophic cardiomyopathy (HCM) in pediatric patients. Genetic variants that influence the onset of CM may differ from those driving disease progression, highlighting the potential value of universal genetic testing for risk stratification in pediatric CM.
PEDIATRIC RESEARCH
(2021)
Article
Biochemical Research Methods
Nicholas S. Diab, Spencer King, Weilai Dong, Garrett Allington, Amar Sheth, Samuel T. Peters, Kristopher T. Kahle, Sheng Chih
Summary: This protocol offers stepwise instructions for analyzing de novo genetic variants from whole-exome sequencing of proband-parent trios, and can be extended to any human disease trio-based cohort. The cohort size is a crucial determinant for discovering high-confidence pathogenic DNMs. For full details, refer to Dong et al. (2020).
Article
Cell Biology
Si-Qiang Zheng, Huan-Xin Chen, Xiao-Cheng Liu, Qin Yang, Guo-Wei He
Summary: This study identified novel variants in the ISL1 gene promoter region and demonstrated that these variants may affect ISL1 protein expression, leading to the formation of VSDs.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2021)
Article
Obstetrics & Gynecology
Kathryn W. Holmes, Jennifer H. Huang, Kristine Gutshall, Amanda Kim, Christina Ronai, Erin J. Madriago
Summary: The study found that most pregnant women accurately understood their fetus's diagnosis following initial fetal counseling, but there is room for improvement in accuracy among women with lower levels of education and in maternal confidence in understanding.
JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE
(2022)
Article
Genetics & Heredity
Aaliya Ahmad, Sara M. Fitzgerald-Butt, Stephanie M. Ware, Hannah E. Ison, Lindsey R. Elmore, Benjamin M. Helm
Summary: This study surveyed practicing genetic counselors about their graduate training experiences and education on congenital heart defects (CHDs). Most participants recalled receiving some education on CHDs, but reported insufficient education on embryologic classification and counseling strategies for CHDs.
JOURNAL OF GENETIC COUNSELING
(2022)
Article
Medicine, General & Internal
Alexander Kovacevic, Stefan Bar, Sebastian Starystach, Michael Elsasser, Thomas van der Locht, Aida Mohammadi Motlagh, Eva Ostermayer, Renate Oberhoffer-Fritz, Peter Ewert, Matthias Gorenflo, Annette Wacker-Gussmann
Summary: This study surveyed parents from four national tertiary medical care centers using a validated questionnaire, and found that parents counseled during the pandemic for fetal congenital heart disease showed significantly increased concern and uncertainty about their child's diagnosis and therapy, as well as a greater need for written and/or online information.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Genetics & Heredity
Weilai Dong, Hande Kaymakcalan, Sheng Chih Jin, Nicholas S. Diab, Cansaran Tanidir, Ali Seyfi Yalim Yalcin, A. Gulhan Ercan-Sencicek, Shrikant Mane, Murat Gunel, Richard P. Lifton, Kaya Bilguvar, Martina Brueckner
Summary: The genome analysis study of CHD in consanguineous families in Turkey reveals a unique genetic architecture, where consanguinity has a strong contribution to laterality defects. This study provides valuable information about the genetic landscape of CHD in consanguineous families in Turkey.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Genetics & Heredity
Hannah E. Ison, Emily L. Griffin, Ashley Parrott, Amy R. Shikany, Lindsay Meyers, Matthew J. Thomas, Erin Syverson, Erin M. Demo, Kristi K. Fitzgerald, Sara Fitzgerald-Butt, Katie L. Ziegler, Allison F. Schartman, Kristyne M. Stone, Benjamin M. Helm
Summary: Congenital heart disease (CHD) is a complex indication that requires guidance for genetic counselors to approach counseling effectively. This resource was developed with input from a diverse group of genetic counselors to support pre- and postnatal encounters with this indication, utilizing relevant literature in CHD genetic counseling practice.
JOURNAL OF GENETIC COUNSELING
(2022)
Review
Genetics & Heredity
Benjamin M. Helm, Benjamin J. Landis, Stephanie M. Ware
Summary: This study evaluated the use of cardiovascular genetics services in 440 infants with severe congenital heart defects and found that genetic diagnoses were made in all classes of CHDs, with higher diagnostic yield in syndromic infants. The importance of geneticists' evaluations for second-tier molecular testing was highlighted, with an overall genetic testing yield of 17%. Testing with copy-number analysis, such as exome and genome sequencing, was underscored as important for accurate diagnoses.
