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Last Posted: May 14, 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

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