Congenital Heart Defects
What's New
Last Posted: May 28, 2024
- High-Throughput Genomics Identify Novel FBN1/2 Variants in Severe Neonatal Marfan Syndrome and Congenital Heart Defects.
Gloria K E Zodanu et al. Int J Mol Sci 2024 25(10) - Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing.
Benjamin M Helm et al. Genes (Basel) 2024 15(4) - Development of a Low Cost Semiquantitative Polymerase Chain Reaction Assay for Molecular Diagnosis of Williams Syndrome.
Dinali M Ranaweera et al. Clin Lab 2024 70(3) - A machine learning model for predicting congenital heart defects from administrative data.
Haoming Shi et al. Birth Defects Res 2023 - A Multicenter Cross-Sectional Study in Infants with Congenital Heart Defects Demonstrates High Diagnostic Yield of Genetic Testing but Variable Evaluation Practices
MD Durbin et al, Genet in Med Open, May 2023 - Classification of normal and abnormal fetal heart ultrasound images and identification of ventricular septal defects based on deep learning.
Yiru Yang et al. J Perinat Med 2023 - The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1.
Aafke Engwerda et al. Orphanet journal of rare diseases 2023 18(1) 59 - Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD.
Hager Jaouadi et al. Journal of translational medicine 2023 21(1) 160 - Association Between Proton Pump Inhibitor Use During Early Pregnancy and Risk of Congenital Malformations.
Choi Ahhyung et al. JAMA network open 2023 6(1) e2250366 - Retrospective evaluation of clinical and molecular data of 148 cases of esophageal atresia.
Ranza Emmanuelle et al. American journal of medical genetics. Part A 2022 - A descriptive investigation of clinical practice models used by cardiovascular genetic counselors in North America.
Rickman Allison F et al. Journal of genetic counseling 2022 - Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects.
Cao Y et al. Prenatal diagnosis 2022 - It Is Not Carved in Stone-The Need for a Genetic Reevaluation of Variants in Pediatric Cardiomyopathies.
Westphal Dominik Sebastian et al. Journal of cardiovascular development and disease 2022 9(2) - 5 Things to Know About Heart Defects
CDC, February 2022 - From Heart Murmur to Echocardiography - Congenital Heart Defects Diagnostics Using Machine-Learning Algorithms.
Begic Edin et al. Psychiatria Danubina 2022 33(Suppl 13) 236-246 - Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome.
Dar Pe'er et al. American journal of obstetrics and gynecology 2022 - Assessing genetic counselors' graduate school education and training in congenital heart defects.
Ahmad Aaliya et al. Journal of genetic counseling 2021 - Artificial Intelligence Supports Decision Making during Open-Chest Surgery of Rare Congenital Heart Defects.
Lo Muzio Francesco Paolo et al. Journal of clinical medicine 2021 10(22) - The current state of prenatal detection of genetic conditions in congenital heart defects.
Findley Tina O et al. Translational pediatrics 2021 10(8) 2157-2170 - Genetic Evaluation of Inpatient Neonatal and Infantile Congenital Heart Defects: New Findings and Review of the Literature.
Helm Benjamin M et al. Genes 2021 12(8) - High Familial Recurrence of Congenital Heart Defects in Laterality Defects Patients: An Evaluation of 184 Families.
Hu Huifang et al. Pediatric cardiology 2021 - The yield of chromosomal microarray in pregnancies with congenital cardiac defects and normal NIPS.
Sagi-Dain Lena et al. American journal of obstetrics and gynecology 2021 - Genetic evaluation of newborns with critical congenital heart defects admitted to the intensive care unit.
Miletic Aleksandra et al. European journal of pediatrics 2021 - World Birth Defects Day, March 3, 2021
CDC, March 2021 - Improving preoperative risk-of-death prediction in surgery congenital heart defects using artificial intelligence model: A pilot study.
Chang Junior João et al. PloS one 2020 15(9) e0238199 - Genetics in congenital heart disease. Are we ready for it?
De Backer Julie et al. Revista espanola de cardiologia (English ed.) 2020 Jul - [Noonan syndrome: genetic and clinical update and treatment options].
Carcavilla Atilano et al. Anales de pediatria (Barcelona, Spain : 2003) 2020 May - The rate of undetectable genetic causes by Cell-free DNA test in congenital heart defects.
Asoglu Mehmet Resit et al. The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians 2020 Apr 1-7 - The prevalence of genetic diagnoses in fetuses with severe congenital heart defects.
Nisselrooij Amber E L van et al. Genetics in medicine : official journal of the American College of Medical Genetics 2020 Apr - For people with underlying health conditions, the coronavirus presents ‘all the ingredients’ for danger
A Joseph, Stat News, March 23, 2020 - Genetic Contribution to Congenital Heart Disease (CHD).
Shabana N A et al. Pediatric cardiology 2020 Jan 41(1) 12-23 - Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk.
Crawford Christopher A et al. Cardiology in the young 2020 Jan 1-8 - Fulfilling the Promise - Ensuring the Success of Newborn Screening throughout Life
CDC, November 2019 - Genome-wide association studies of structural birth defects: A review and commentary.
Lupo Philip J et al. Birth defects research 2019 Oct - Implementing Artificial Intelligence and Digital Health in Resource-Limited Settings? Top 10 Lessons We Learned in Congenital Heart Defects and Cardiology.
Thomford Nicholas Ekow et al. Omics : a journal of integrative biology 2019 Oct - Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing.
Huang Caiyi et al. Journal of assisted reproduction and genetics 2019 Sep - Fetal diagnosis of Mowat-Wilson syndrome by whole exome sequencing.
Evans Carey-Anne et al. American journal of medical genetics. Part A 2019 Jul - Genetic counselling and testing in congenital heart defects and hereditary thoracic aortic disease: Complex but essential.
Breckpot Jeroen et al. European journal of preventive cardiology 2019 Jun 2047487319860296 - Genetic counselling and testing in adults with congenital heart disease: A consensus document of the ESC Working Group of Grown-Up Congenital Heart Disease, the ESC Working Group on Aorta and Peripheral Vascular Disease and the European Society of Human Genetics.
De Backer Julie et al. European journal of preventive cardiology 2019 Jun 2047487319854552 - Chromosomal microarray analysis in fetuses with an isolated congenital heart defect: a retrospective, nationwide, multicenter study in France.
Hureaux M et al. Prenatal diagnosis 2019 Mar
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About HLBS-PopOmics
HLBS-PopOmics is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other materials that address the translation of genomic and other precision health discoveries into improved health care and prevention related to Heart and Vascular Diseases(H), Lung Diseases(L), Blood Diseases(B), and Sleep Disorders(S)...more
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Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Jun 28, 2024
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