Arbelo, E. et al. 2023 ESC guidelines for the management of cardiomyopathies. Eur. Heart J. 44, 3503–3626 (2023).
McDonagh, T. A. et al. 2021 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure. Eur. Heart J. 42, 3599–3726 (2021).
Ommen, S. R. et al. 2020 AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. Circulation 142, e558–e631 (2020).
Wilde, A. A. M. et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus statement on the state of genetic testing for cardiac diseases. Europace 24, 1307–1367 (2022).
Article PubMed PubMed Central Google Scholar
Paul, R. A. et al. Preimplantation genetic testing for adult-onset neurodegenerative disease: considerations for access, utilization, and counseling. Neurology 101, 836–841 (2023).
Thompson, W. S. et al. State of the science and ethical considerations for preimplantation genetic testing for monogenic cystic kidney diseases and ciliopathies. J. Am. Soc. Nephrol. 35, 235–248 (2023).
Albujja, M. H., Al-Ghedan, M., Dakshnamoorthy, L. & Pla Victori, J. Preimplantation genetic testing for embryos predisposed to hereditary cancer: possibilities and challenges. Cancer Pathog. Ther. 2, 1–14 (2024).
Musunuru, K. et al. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ. Genom. Precis. Med. 13, e000067 (2020).
Landstrom, A. P. et al. Genetic testing for heritable cardiovascular diseases in pediatric patients: a scientific statement from the American Heart Association. Circ. Genom. Precis. Med. 14, e000086 (2021).
Article PubMed PubMed Central Google Scholar
Jordan, E. et al. Evidence-based assessment of genes in dilated cardiomyopathy. Circulation 144, 7–19 (2021).
Article PubMed PubMed Central Google Scholar
Ingles, J. et al. Evaluating the clinical validity of hypertrophic cardiomyopathy genes. Circ. Genom. Precis. Med. 12, e002460 (2019).
Article PubMed PubMed Central Google Scholar
Adler, A. et al. An international, multicentered, evidence-based reappraisal of genes reported to cause congenital long QT syndrome. Circulation 141, 418–428 (2020).
Article PubMed PubMed Central Google Scholar
Hosseini, S. M. et al. Reappraisal of reported genes for sudden arrhythmic death: evidence-based evaluation of gene validity for Brugada syndrome. Circulation 138, 1195–1205 (2018).
Article PubMed PubMed Central Google Scholar
Escobar-Lopez, L. et al. Association of genetic variants with outcomes in patients with nonischemic dilated cardiomyopathy. J. Am. Coll. Cardiol. 78, 1682–1699 (2021).
Walsh, R., Tadros, R. & Bezzina, C. R. When genetic burden reaches threshold. Eur. Heart J. 41, 3849–3855 (2020).
Article PubMed PubMed Central Google Scholar
Koch, S., Schmidtke, J., Krawczak, M. & Caliebe, A. Clinical utility of polygenic risk scores: a critical 2023 appraisal. J. Community Genet. 14, 471–487 (2023).
Article PubMed PubMed Central Google Scholar
NHS England Clinical Reference Group for Medical Genetics. Clinical Commissioning Policy: Pre-implantation Genetic Diagnosis (PGD). NHS England. https://www.england.nhs.uk/wp-content/uploads/2014/04/e01-med-gen-0414.pdf (2014).
Latham, K. E. Preimplantation embryo gene expression: 56 years of discovery, and counting. Mol. Reprod. Dev. 90, 169–200 (2023).
Practice Committee and Genetic Counseling Professional Group of the American Society for Reproductive Medicine and American Society for Reproductive Medicine. Indications and management of preimplantation genetic testing for monogenic conditions: a committee opinion. Fertil. Steril. 120, 61–71 (2023).
Kuliev, A., Pomerantseva, E., Polling, D., Verlinsky, O. & Rechitsky, S. PGD for inherited cardiac diseases. Reprod. Biomed. Online 24, 443–453 (2012).
Carvalho, F. et al. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders. Hum. Reprod. Open 2020, hoaa018 (2020).
Article PubMed PubMed Central Google Scholar
van Dijk, W. et al. Embryo tracking system for high-throughput sequencing-based preimplantation genetic testing. Hum. Reprod. 37, 2700–2708 (2022).
Article PubMed PubMed Central Google Scholar
Giuliano, R., Maione, A., Vallefuoco, A., Sorrentino, U. & Zuccarello, D. Preimplantation genetic testing for genetic diseases: limits and review of current literature. Genes 14, 2095 (2023).
Article PubMed PubMed Central Google Scholar
Backenroth, D. et al. Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy. Genet. Med. 21, 1390–1399 (2019).
Natesan, S. A. et al. Genome-wide karyomapping accurately identifies the inheritance of single-gene defects in human preimplantation embryos in vitro. Genet. Med. 16, 838–845 (2014).
Article PubMed PubMed Central Google Scholar
Handyside, A. H. et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J. Med. Genet. 47, 651–658 (2010).
Zamani Esteki, M. et al. Concurrent whole-genome haplotyping and copy-number profiling of single cells. Am. J. Hum. Genet. 96, 894–912 (2015).
Article PubMed PubMed Central Google Scholar
Janssen, A. E. J. et al. Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing. Nat. Commun. 15, 7164 (2024).
Article PubMed PubMed Central Google Scholar
van der Schoot, V. et al. Preimplantation genetic testing for more than one genetic condition: clinical and ethical considerations and dilemmas. Hum. Reprod. 34, 1146–1154 (2019).
Verdonschot, J. A. J. et al. Clinical guideline for preimplantation genetic testing in inherited cardiac diseases. Circ. Genom. Precis. Med. 17, e004416 (2024).
Article PubMed PubMed Central Google Scholar
Charron, P. et al. Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur. Heart J. 31, 2715–2726 (2010).
Hershberger, R. E. et al. Genetic evaluation of cardiomyopathy — a Heart Failure Society of America Practice Guideline. J. Card. Fail. 24, 281–302 (2018).
Article PubMed PubMed Central Google Scholar
Ackerman, M. J. et al. HRS/EHRA Expert Consensus Statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA). Europace 13, 1077–1109 (2011).
Ahmad, F. et al. Establishment of specialized clinical cardiovascular genetics programs: recognizing the need and meeting standards: a scientific statement from the American Heart Association. Circ. Genom. Precis. Med. 12, e000054 (2019).
留言 (0)