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作者：
Edwin P,Kirk [1]
;
Martin B,Delatycki [1]
;
Alison D,Archibald [1]
;
Erin,Tutty [1]
;
Jade,Caruana [1]
;
Jane L,Halliday [1]
;
Sharon,Lewis [1]
;
Belinda J,McClaren [1]
;
Ainsley J,Newson [1]
;
Lisa,Dive [1]
;
Stephanie,Best [1]
;
Janet C,Long [1]
;
Jeffrey,Braithwaite [1]
;
Martin J,Downes [1]
;
Paul A,Scuffham [2]
;
John,Massie ;
Kristine,Barlow-Stewart ;
Abhi,Kulkarni ;
Amy,Ruscigno ;
Anaita,Kanga-Parabia ;
Bianca,Rodrigues ;
Bruce H,Bennetts ;
Camron,Ebzery ;
Clare,Hunt ;
Corrina C,Cliffe ;
Crystle,Lee ;
Dimitar,Azmanov ;
Emily A,King ;
Evanthia O,Madelli ;
Futao,Zhang ;
Gladys,Ho ;
Isabelle,Danos ;
Jan,Liebelt ;
Janice,Fletcher ;
Jillian,Kennedy ;
John,Beilby ;
Jon D,Emery ;
Julie,McGaughran ;
Justine E,Marum ;
Katrina,Scarff ;
Katrina,Fisk ;
Katrina,Harrison ;
Kirsten,Boggs ;
Lana,Giameos ;
Lara,Fitzgerald ;
Lauren,Thomas ;
Leslie,Burnett ;
Lucinda,Freeman ;
Madeleine,Harris ;
Marina,Berbic ;
Mark R,Davis ;
Marta,Cifuentes Ochoa ;
Mathew,Wallis ;
Meaghan,Wall ;
Melissa T M,Chow ;
Monica M,Ferrie ;
Nicholas,Pachter ;
Nila,Quayum ;
Nitzan,Lang ;
Praveena,Kasi Pandy ;
Rachael,Casella ;
Richard J N,Allcock ;
Royston,Ong ;
Samantha,Edwards ;
Samantha,Sundercombe ;
Sarah,Jelenich ;
Sarah,Righetti ;
Sebastian,Lunke ;
Sharanbeer,Kaur ;
Sharyn,Stock-Myer ;
Stefanie,Eggers ;
Susan P,Walker ;
Tahlia,Theodorou ;
Tara,Catchpool ;
Tenielle,Clinch ;
Tony,Roscioli ;
Tristan,Hardy ;
Ying,Zhu ;
Zoe,Fehlberg ;
Tiffany F,Boughtwood ;
Nigel G,Laing ;
Mackenzie’s Mission Investigators ;
Mackenzie's Mission Investigators
作者单位：
From the Centre for Clinical Genetics, Sydney Children's Hospital (E.P.K., K.B., S.R., S.K.), NSW Health Pathology Randwick Genomics Laboratory (E.P.K., B.R., C.C.C., F.Z., J.F., M.B., N.Q., S.R., S.K., T.R., Y.Z.), the School of Clinical Medicine (E.P.K., M.B.), the School of Women's and Children's Health (L. Freeman, S.R., S.K.), and the Randwick Clinical Campus, Neuroscience Research Australia (Y.Z.), University of New South Wales, Randwick, Victorian Clinical Genetics Services (M.B.D., A.D.A., A.K.-P., C.H., C.L., I.D., J.E.M., K.S., L.G., L.T., M.C.O., M. Wall, M.T.M.C., M.M.F., N.L., S. Lunke, S. Eggers), the Bruce Lefroy Centre, Murdoch Children's Research Institute (M.B.D., E.A.K.), the Department of Paediatrics (M.B.D., A.D.A., E.T., J.L.H., S. Lewis, B.J.M., J. Massie, E.A.K., Z.F.), the Department of General Practice and Centre for Cancer Research (J.D.E.), and the Department of Pathology (Sebastian Lunke), University of Melbourne, Murdoch Children's Research Institute (A.D.A., E.T., J.C., J.L.H., S. Lewis, B.J.M., J. Massie, A.R., E.A.K., E.O.M., L.G., M.H., S.J., S. Lunke, S. Eggers, T.F.B.), and Australian Genomics (J.C., A.J.N., S.B., Jeffrey Braithwaite, E.O.M., K.B., S.J., Z.F., T.F.B.), Parkville, VIC, the Faculty of Medicine and Health, Sydney School of Public Health, Sydney Health Ethics, University of Sydney, Camperdown, NSW (A.J.N., L.D.), the Graduate School of Health, University of Technology Sydney (L.D., L. Freeman), Macquarie University, Australian Institute of Health Innovation (J.C.L., J. Braithwaite, T.T.), and the Faculty of Medicine and Health, University of New South Wales (K.B.-S.), Sydney (R.C.), the Peter MacCallum Cancer Centre (S.B.), the Victorian Comprehensive Cancer Centre (S.B.), the Sir Peter MacCallum Department of Oncology (S.B.) and the Department of Obstetrics and Gynaecology (S.P.W.), University of Melbourne, the Department of Respiratory Medicine and Children's Bioethics Centre, the Royal Children's Hospital (J. Massie), Genomic Diagnostics (A.K.), and Virtus Health, Virtus Genetics (S.S.-M.), Melbourne, VIC, Menzies Health Institute Queensland, Griffith University, and Griffith University School of Medicine and Dentistry, Gold Coast (M.J.D., P.A.S.), the Northern Clinical School, Faculty of Medicine and Health (K.B.S., L.B.), and Royal North Shore Hospital, Kolling Institute, Cancer Genetics Laboratory (Y.Z.), University of Sydney, St. Leonards, NSW, SA Pathology (A.K., T.H.), South Australian Clinical Genetics Service (J.L.) and the Pediatric and Reproductive Genetics Unit (L. Fitzgerald), Women's and Children's Hospital, and Repromed (J.L.), Adelaide, the Children's Hospital at Westmead, Sydney Genome Diagnostics (B.H.B., G.H., K.F.), the Specialty of Genomic Medicine, Faculty of Medicine and Health, the Children's Hospital at Westmead Clinical School, University of Sydney (B.H.B., G.H., K.F.), and the Department of Clinical Genetics, the Children's Hospital at Westmead (K.B.), Westmead, NSW, Genetic Health Queensland, Royal Brisbane and Women's Hospital (C.E., J. McGaughran, T. Clinch), and the School of Medicine, University of Queensland (Julie McGaughran), Brisbane, the Department of Diagnostic Genomics, PathWest Laboratory Medicine (D.A., M.R.D., P.K.P., R.J.N.A., R.O., T. Catchpool, N.G.L.), the School of Biological Sciences, Centre for Genetic Origins of Health and Disease (J. Beilby), the Centre for Medical Research (M.R.D., R.O., N.G.L.), and the Faculty of Health and Medical Sciences (N.P.), University of Western Australia, and Harry Perkins Institute of Medical Research (R.O., Samantha Edwards, N.G.L.), Nedlands, the Department of Pathology and Laboratory Medicine, Medical School, University of Western Australia (D.A.), and Genetic Services of Western Australia, King Edward Memorial Hospital (J.K., N.P.), Perth, the Tasmanian Clinical Genetics Service (K.H., M. Wallis) and the School of Medicine and Menzies Institute for Medical Research (M. Wallis), University of Tasmania, Hobart, the Garvan Institute of Medical Research and the School of Clinical Medicine, St. Vincent's Clinical Campus, University of New South Wales, Darlinghurst (L.B.), King Edward Memorial Hospital, Subiaco, WA (N.P.), the School of Biomedical Sciences, University of Western Australia, Crawley (R.J.N.A.), Sonic Healthcare, Douglass Hanly Moir Pathology, Macquarie Park, NSW (S.S.), Mercy Hospital for Women, Mercy Perinatal, Heidelberg, VIC (S.P.W.), and Monash IVF Group, Richmond, VIC (T.H.) - all in Australia; and the International Society for Quality in Health Care, Dublin (J. Braithwaite).
[1]
From the Centre for Clinical Genetics, Sydney Children's Hospital (E.P.K., K.B., S.R., S.K.), NSW Health Pathology Randwick Genomics Laboratory (E.P.K., B.R., C.C.C., F.Z., J.F., M.B., N.Q., S.R., S.K., T.R., Y.Z.), the School of Clinical Medicine (E.P.K., M.B.), the School of Women's and Children's Health (L. Freeman, S.R., S.K.), and the Randwick Clinical Campus, Neuroscience Research Australia (Y.Z.), University of New South Wales, Randwick, Victorian Clinical Genetics Services (M.B.D., A.D.A., A.K.-P., C.H., C.L., I.D., J.E.M., K.S., L.G., L.T., M.C.O., M. Wall, M.T.M.C., M.M.F., N.L., S. Lunke, S. Eggers), the Bruce Lefroy Centre, Murdoch Children's Research Institute (M.B.D., E.A.K.), the Department of Paediatrics (M.B.D., A.D.A., E.T., J.L.H., S. Lewis, B.J.M., J. Massie, E.A.K., Z.F.), the Department of General Practice and Centre for Cancer Research (J.D.E.), and the Department of Pathology (Sebastian Lunke), University of Melbourne, Murdoch Children's Research Institute (A.D.A., E.T.,
[2]
主题词
成年人(Adult);女(雌)性(Female);人类(Humans);男(雄)性(Male);妊娠(Pregnancy);澳大利亚(Australia);可行性研究(Feasibility Studies);遗传性疾病, 先天性(Genetic Diseases, Inborn);病人接受卫生保健的程度(Patient Acceptance of Health Care);决策(Decision Making);杂合子(Heterozygote);家庭特征(Family Characteristics);生殖行为(Reproductive Behavior)
DOI
10.1056/NEJMoa2314768
PMID
39565987
发布时间
2024-11-20
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The New England journal of medicine
The New England journal of medicine
1877-1889页
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