Preimplantation Genetic Testing for Inherited Heart Diseases

Musunuru K, Hershberger RE, Day SM, Klinedinst NJ, Landstrom AP, Parikh VN, et al. Genetic testing for inherited cardiovascular diseases: a scientific statement from the American Heart Association. Circ Genom Precis Med. 2020;13(4):e000067.

Article  PubMed  Google Scholar 

Stiles MK, Wilde AAM, Abrams DJ, Ackerman MJ, Albert CM, Behr ER, et al. 2020 APHRS/HRS expert consensus statement on the investigation of decedents with sudden unexplained death and patients with sudden cardiac arrest, and of their families. Heart Rhythm. 2021;18(1):e1–50.

Article  PubMed  Google Scholar 

Wilde AAM, Semsarian C, Márquez MF, Shamloo AS, Ackerman MJ, Ashley EA, 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. EP Europace. 2022;24(8):1307–67.

Article  Google Scholar 

Zegers-Hochschild F, Adamson GD, Dyer S, Racowsky C, De Mouzon J, Sokol R, Rienzi L, Sunde A, Schmidt L, Cooke ID, Simpson JL. The international glossary on infertility and fertility care, 2017. Fertil Steril. 2017;108(3):393–406.

Article  PubMed  Google Scholar 

ACOG Committee Opinion. Preimplantation genetic testing, Number 799. Obstet Gynecol. 2020;135(3):e133–7.

Article  Google Scholar 

De Rycke M, Berckmoes V. Preimplantation genetic testing for monogenic disorders. Genes. 2020;11(8):871.

Article  PubMed  PubMed Central  Google Scholar 

Kuliev A, Pakhalchuk T, Prokhorovich M, Rechitsky S. Preimplantation genetic testing for inherited predisposition to cardiac disease. Ann Heart. 2021;5(1). https://scholars.direct/Articles/heart/ahe-5-019.php?jid=heart. Kuliev et al. discuss outcomes of PGT-M cycles for inherited cardiac diseases. 109 cycles resulted in 54 liveborn children without the variant. The most common indication for PGT-M in this cohort was hypertrophic cardiomyopathy, with variants in MYBPC3 being the most prevalent. The article discusses the increasing usage of PGT-M for inherited cardiac diseases to prevent adverse outcomes like premature sudden death in offspring.

Daar J, Benward J, Collins L, Davis J, Davis O, Francis L, et al. Use of preimplantation genetic testing for monogenic defects (PGT-M) for adult-onset conditions: an Ethics Committee opinion. Fertil Steril. 2018;109(6):989–92.

Article  Google Scholar 

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–24.

Article  PubMed  PubMed Central  Google Scholar 

Penzias A, Azziz R, Bendikson K, Cedars M, Falcone T, Hansen K, Hill M, Jindal S, Kalra S, Mersereau J, Racowsky C. Fertility evaluation of infertile women: a committee opinion. Fertil Steril. 2021;116(5):1255–65.

Article  Google Scholar 

ESHRE PGT Consortium Steering Committee, Carvalho F, Coonen E, Goossens V, Kokkali G, Rubio C, et al. ESHRE PGT Consortium good practice recommendations for the organisation of PGT. Hum Reprod Open. 2020;2020(3):hoaa021.

Article  PubMed Central  Google Scholar 

Gurevich R. Verywell Family. 2021 PGT-M and PGT-A screening to reduce the risk of passing genetic diseases. https://www.verywellfamily.com/pgd-and-pgs-genetic-screening-before-ivf-4151705

Mathiesen A, Roy K. In: Baty B, editor. Foundations of perinatal genetic counseling : a guide for counselors. Oxford; New York: Oxford University Press; 2018. p. 289.

Google Scholar 

ESHRE PGT-M Working Group, Carvalho F, Moutou C, Dimitriadou E, Dreesen J, Giménez C, et al. ESHRE PGT Consortium good practice recommendations for the detection of monogenic disorders†. Human Reprod Open. 2020;2020(3):hoaa018.

Article  Google Scholar 

Scott RT, Upham KM, Forman EJ, Zhao T, Treff NR. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril. 2013;100(3):624–30.

Article  PubMed  Google Scholar 

Goisis A, Remes H, Martikainen P, Klemetti R, Myrskylä M. Medically assisted reproduction and birth outcomes: a within-family analysis using Finnish population registers. Lancet. 2019;393(10177):1225–32.

Article  PubMed  Google Scholar 

Hwang SS, Dukhovny D, Gopal D, Cabral H, Missmer S, Diop H, et al. Health of infants after ART-treated, subfertile, and fertile deliveries. Pediatrics. 2018;142(2):e20174069.

Article  PubMed  Google Scholar 

Liberman RF, Getz KD, Heinke D, Luke B, Stern JE, Declercq ER, et al. Assisted reproductive technology and birth defects: effects of subfertility and multiple births. Birth Defects Res. 2017;109(14):1144–53.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Khorshid A, Boyd ALH, Behr B, Zhao Q, Alvero R, Bavan B. Cost-effectiveness of IVF with PGT-M/A to prevent transmission of spinal muscular atrophy in offspring of carrier couples. J Assist Reprod Genet. 2023;40:793–801.

Article  PubMed  Google Scholar 

Lipton JH, Zargar M, Warner E, Greenblatt EE, Lee E, Chan KKW, et al. Cost effectiveness of in vitro fertilisation and preimplantation genetic testing to prevent transmission of BRCA1/2 mutations. Hum Reprod. 2020;35(2):434–45.

Article  CAS  PubMed  Google Scholar 

Bunnell ME, Dobson LJ, Lanes A, Ginsburg ES. Use of preimplantation genetic testing for monogenic disorders and subsequent prenatal care and diagnostic testing. Prenat Diagn. 2022;42(8):1022–30.

Article  PubMed  Google Scholar 

Rechitsky S, Kuliev A. Preimplantation genetic testing (PGT) for non-traditional indications. Reprod BioMed Online. 2019;38:e3.

Article  Google Scholar 

Tester DJ, Ackerman MJ. Genetic testing for potentially lethal, highly treatable inherited cardiomyopathies/channelopathies in clinical practice. Circulation. 2011;123(9):1021–37.

Article  PubMed  PubMed Central  Google Scholar 

Bayefsky M. Who should regulate preimplantation genetic diagnosis in the United States? AMA J Ethics. 2018;20(12):E1160–7.

Article  PubMed  Google Scholar 

Mital S, Musunuru K, Garg V, Russell MW, Lanfear DE, Gupta RM, et al. Enhancing literacy in cardiovascular genetics: a scientific statement from the American Heart Association. Circ Cardiovasc Genet. 2016;9(5):448–67.

Article  CAS  PubMed  Google Scholar 

Capelouto S, Evans M, Shannon J, Jetelina K, Bukulmez O, Carr B. Specialist physicians’ referral behavior regarding preimplantation genetic testing for single-gene disorders: is there room to grow? F S Rep. 2021;2(2):215–23.

PubMed  PubMed Central  Google Scholar 

Klitzman R. Challenges, Dilemmas and factors involved in PGD decision-making: providers’ and patients’ views, experiences and decisions. J Genet Couns. 2018;27(4):909–19.

Article  PubMed  Google Scholar 

Hughes T, Bracewell-Milnes T, Saso S, Jones BP, Almeida PA, Maclaren K, et al. A review on the motivations, decision-making factors, attitudes and experiences of couples using pre-implantation genetic testing for inherited conditions. Hum Reprod Update. 2021;27(5):944–66. Hughes et al. conducted a systematic literature review to report aspects of couples’ experiences with PGT. They used thematic analysis to summarize common patient motivations, attitudes, and decision-making factors and describe patient experiences with the decision process and the PGT process. The review provides insight on how to use these findings in clinical practice to best support patients considering PGT including holistic and thorough counseling and a multidisciplinary care team.

Article  CAS  PubMed  Google Scholar 

Lee I, Alur-Gupta S, Gallop R, Dokras A. Utilization of preimplantation genetic testing for monogenic disorders. Fertil Steril. 2020;114(4):854–60.

Article  PubMed  Google Scholar 

Yeates L, McDonald K, Burns C, Semsarian C, Carter S, Ingles J. Decision-making and experiences of preimplantation genetic diagnosis in inherited heart diseases: a qualitative study. Eur J Hum Genet. 2022;30(2):187–93. Yeates et al. conducted semi-structured interviews with 20 individuals recruited from a specialized cardiovascular genetics clinic in Australia to understand their experiences learning about and utilizing PGT-M for inherited cardiac conditions. Three themes emerged including the patient/family experience with the disease, familial and generational factors, and practical considerations which all impacted participants’ imagined future and their decision to pursue PGT-M or not. The article provides main points to discuss with patients/families considering PGT-M to best support families and highlights the benefit of a multidisciplinary specialized clinic in this setting.

Article  PubMed  Google Scholar 

Patton K, Wong EK, Cirino AL, Dobson LJ, Harris S. Reproductive decision-making and the utilization of preimplantation genetic testing among individuals with inherited aortic or vascular disease. J Genet Couns. 2023; https://doi.org/10.1002/jgc4.1759.

Pastore LM, Cordeiro Mitchell CN, Rubin LR, Nicoloro-SantaBarbara J, Genoff Garzon MC, Lobel M. Patients’ preimplantation genetic testing decision-making experience: an opinion on related psychological frameworks. Hum Reprod Open. 2019;2019(4):hoz019.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Hershberger PE, Gallo AM, Kavanaugh K, Olshansky E, Schwartz A, Tur-Kaspa I. The decision-making process of genetically at-risk couples considering preimplantation genetic diagnosis: initial findings from a grounded theory study. Soc Sci Med. 2012;74(10):1536–43.

Article  PubMed  PubMed Central  Google Scholar 

Cheng L, Meiser B, Kirk E, Kennedy D, Barlow-Stewart K, Kaur R. Factors influencing patients’ decision-making about preimplantation genetic testing for monogenic disorders. Hum Reprod. 2022;37(11):2599–610.

Article  PubMed  Google Scholar 

Mor P, Brennenstuhl S, Metcalfe KA. Uptake of preimplantation genetic diagnosis in female BRCA1 and BRCA2 Mutation Carriers. J Genet Couns. 2018;27(6):1386–94.

Article  PubMed  Google Scholar 

Zuckerman S, Gooldin S, Zeevi DA, Altarescu G. The decision-making process, experience, and perceptions of preimplantation genetic testing (PGT) users. J Assist Reprod Genet. 2020;37(8):1903–12.

Article  PubMed  PubMed Central  Google Scholar 

Resta R, Biesecker BB, Bennett RL, Blum S, Estabrooks Hahn S, Strecker MN, et al. A new definition of genetic counseling: national society of genetic counselors’ task force report. J Genet Couns. 2006;15(2):77–83.

Article  PubMed  Google Scholar 

Arscott P, Caleshu C, Kotzer K, Kreykes S, Kruisselbrink T, Orland K, et al. A case for inclusion of genetic counselors in cardiac care. Cardiol Rev. 2016;24(2):49–55.

Article  PubMed  PubMed Central  Google Scholar 

Platt J. A person-centered approach to cardiovascular genetic testing. Cold Spring Harb Perspect Med. 2020;10(7):a036624.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Bains S, Neves R, Bos JM, Giudicessi JR, MacIntyre C, Ackerman MJ. Phenotypes of overdiagnosed long QT syndrome. J Am Coll Cardiol. 2023;81(5):477–86.

Article  CAS  PubMed 

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