Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.

Autor: Capalbo A; Juno Genetics, Department of Reproductive Genetics, Rome, Italy.; Center for Advanced Studies and Technology (CAST), Department of Medical Genetics, 'G. d'Annunzio' University of Chieti-Pescara, Chieti, Italy., de Wert G; Department of Health, Ethics & Society, CAPHRI-School for Public Health and Primary Care and GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Mertes H; Department of Philosophy and Moral Sciences, Ghent University, Ghent, Belgium.; Department of Public Health and Primary Care, Ghent University, Ghent, Belgium., Klausner L; Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel., Coonen E; Departments of Clinical Genetics and Reproductive Medicine, Maastricht University Medical Centre, Maastricht, The Netherlands.; School for Oncology and Developmental Biology, GROW, Maastricht University, Maastricht, The Netherlands., Spinella F; Eurofins GENOMA Group Srl, Molecular Genetics Laboratories, Department of Scientific Communication, Rome, Italy., Van de Velde H; Research Group Genetics Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussel, Belgium.; Brussels IVF, UZ Brussel, Brussel, Belgium., Viville S; Laboratoire de Génétique Médicale LGM, Institut de Génétique Médicale d'Alsace IGMA, INSERM UMR 1112, Université de Strasbourg, France.; Laboratoire de Diagnostic Génétique, Unité de Génétique de l'infertilité (UF3472), Hôpitaux Universitaires de Strasbourg, Strasbourg, France., Sermon K; Research Group Genetics Reproduction and Development (GRAD), Vrije Universiteit Brussel, Brussel, Belgium., Vermeulen N; ESHRE Central Office, Strombeek-Bever, Belgium., Lencz T; Institute of Behavioral Science, Feinstein Institutes for Medical Research, Manhasset, NY, USA.; Departments of Psychiatry and Molecular Medicine, Zucker School of Medicine at Hofstra/Northwell, Hempstead, NY 11549, USA., Carmi S; Braun School of Public Health and Community Medicine, The Hebrew University of Jerusalem, Jerusalem, Israel.

Publikováno v: Human reproduction update [Hum Reprod Update] 2024 Oct 01; Vol. 30 (5), pp. 529-557.

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

Autor: Janssen AEJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Koeck RM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Essers R; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Cao P; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., van Dijk W; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Drüsedau M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Meekels J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Yaldiz B; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., van de Vorst M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Koning B; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Hellebrekers DMEI; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Sun SM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Heijligers M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Munnik SA; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., van Uum CMJ; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Achten J; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Hamers L; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Naghdi M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Faculty of Psychology and Neuroscience, Section Applied Social Psychology, Maastricht University, Maastricht, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., van Golde RJT; Department of Obstetrics and Gynaecology, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., de Wert G; Department of Health, Ethics and Society, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; CAPHRI Research Institute for Public Health and Primary Care, Maastricht University, Maastricht, The Netherlands., Dreesen JCFM; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., de Die-Smulders C; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Coonen E; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Obstetrics and Gynaecology, GROW Research Institute for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Brunner HG; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands.; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., van den Wijngaard A; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands., Paulussen ADC; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Zamani Esteki M; Department of Clinical Genetics, Maastricht University Medical Centre (MUMC+), Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Department of Genetics and Cell Biology, GROW Research Institute Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands. masoud.zamaniesteki@mumc.nl.; Division of Obstetrics and Gynaecology, Department of Clinical Science, Intervention & Technology (CLINTEC), Karolinska Institutet, Stockholm, Sweden. masoud.zamaniesteki@mumc.nl.

Publikováno v: Nature communications [Nat Commun] 2024 Sep 02; Vol. 15 (1), pp. 7164. Date of Electronic Publication: 2024 Sep 02.

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.).

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Apr; Vol. 17 (2), pp. e004416. Date of Electronic Publication: 2024 Mar 22.

ESHRE PGT Consortium data collection XXI: PGT analyses in 2018†.

Autor: Spinella, F, Bronet, F, Carvalho, F, Coonen, E, De Rycke, M, Rubio, C, Goossens, V, Van Montfoort, A

Publikováno v: Human Reproduction Open; 2023, Vol. 2023 Issue 2, p1-9, 9p

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