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)
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About RCH PHGKB
Reproductive and Child Health PHGKB 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 reproductive and child Health...more
Content Summary
Common RCH Related Topics
- Attention Deficit/Hyperactivity Disorder
- Autism
- Birth Defects
- Carrier Testing
- Cerebral Palsy
- Congenital heart defects
- Pregnancy loss
- Developmental Disabilities
- Gestational Diabetes
- Hearing loss
- Neural tube defects
- Infant Mortality
- Infertility
- Learning disability
- Newborn Screening
- Preeclampsia
- Prematurity
- Prenatal Testing
- Stillbirth
- Sudden Infant Death Syndrome
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
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