Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Autor:	Verdonschot JAJ; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).; Department of Cardiology, Maastricht University, Cardiovascular Research Institute Maastricht, the Netherlands (J.A.J.V., V.P.M.v.E., S.R.B.H.).; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart) (J.A.J.V., D.M.E.I.H., V.P.M.v.E., S.R.B.H.)., Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).; Department of Cardiology, Maastricht University, Cardiovascular Research Institute Maastricht, the Netherlands (J.A.J.V., V.P.M.v.E., S.R.B.H.).; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart) (J.A.J.V., D.M.E.I.H., V.P.M.v.E., S.R.B.H.)., van Empel VPM; Department of Cardiology, Maastricht University, Cardiovascular Research Institute Maastricht, the Netherlands (J.A.J.V., V.P.M.v.E., S.R.B.H.).; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart) (J.A.J.V., D.M.E.I.H., V.P.M.v.E., S.R.B.H.)., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.)., de Munnik S; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands (S.d.M., H.G.B.)., Coonen E; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).; GROW School for Oncology and Reproduction, Maastricht University, the Netherlands (E.C., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.)., Dreesen JCMF; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.)., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.)., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, the Netherlands (S.d.M., H.G.B.).; GROW School for Oncology and Reproduction, Maastricht University, the Netherlands (E.C., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.)., Zamani Esteki M; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).; GROW School for Oncology and Reproduction, Maastricht University, the Netherlands (E.C., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.)., Heymans SRB; Department of Cardiology, Maastricht University, Cardiovascular Research Institute Maastricht, the Netherlands (J.A.J.V., V.P.M.v.E., S.R.B.H.).; European Reference Network for Rare, Low Prevalence and Complex Diseases of the Heart (ERN GUARD-Heart) (J.A.J.V., D.M.E.I.H., V.P.M.v.E., S.R.B.H.).; Department of Cardiovascular Sciences, Centre for Molecular and Vascular Biology, KU Leuven, Belgium (S.R.B.H.)., de Die-Smulders CEM; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).; GROW School for Oncology and Reproduction, Maastricht University, the Netherlands (E.C., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.)., Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Center, the Netherlands (J.A.J.V., D.M.E.I.H., M.H., S.d.M., E.C., J.C.M.F.D., A.v.d.W., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).; GROW School for Oncology and Reproduction, Maastricht University, the Netherlands (E.C., H.G.B., M.Z.E., C.E.M.d.D.-S., A.D.C.P.).
Jazyk:	angličtina
Zdroj:	Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Apr; Vol. 17 (2), pp. e004416. Date of Electronic Publication: 2024 Mar 22.
DOI:	10.1161/CIRCGEN.123.004416
Abstrakt:	Background: Preimplantation genetic testing (PGT) is a reproductive technology that selects embryos without (familial) genetic variants. PGT has been applied in inherited cardiac disease and is included in the latest American Heart Association/American College of Cardiology guidelines. However, guidelines selecting eligible couples who will have the strongest risk reduction most from PGT are lacking. We developed an objective decision model to select eligibility for PGT and compared its results with those from a multidisciplinary team. Methods: All couples with an inherited cardiac disease referred to the national PGT center were included. A multidisciplinary team approved or rejected the indication based on clinical and genetic information. We developed a decision model based on published risk prediction models and literature, to evaluate the severity of the cardiac phenotype and the penetrance of the familial variant in referred patients. The outcomes of the model and the multidisciplinary team were compared in a blinded fashion. Results: Eighty-three couples were referred for PGT (1997-2022), comprising 19 different genes for 8 different inherited cardiac diseases (cardiomyopathies and arrhythmias). Using our model and proposed cutoff values, a definitive decision was reached for 76 (92%) couples, aligning with 95% of the multidisciplinary team decisions. In a prospective cohort of 11 couples, we showed the clinical applicability of the model to select couples most eligible for PGT. Conclusions: The number of PGT requests for inherited cardiac diseases increases rapidly, without the availability of specific guidelines. We propose a 2-step decision model that helps select couples with the highest risk reduction for cardiac disease in their offspring after PGT. Competing Interests: Disclosures None.
Databáze:	MEDLINE
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