المؤلفون: Guha S; New York Genome Center, New York, NY., Reddi HV; Department of Pathology and Laboratory Medicine, Medical College of Wisconsin, Milwaukee, WI., Aarabi M; UPMC Medical Genetics and Genomics Laboratories, UPMC Magee-Womens Hospital, Pittsburgh, PA; Departments of Pathology and Obstetrics, Gynecology, and Reproductive Sciences, University of Pittsburgh School of Medicine, Pittsburgh, PA., DiStefano M; The Broad Institute of MIT and Harvard, Cambridge, MA., Wakeling E; GeneDx, Inc, Gaithersburg, MD., Dungan JS; Department of Obstetrics and Gynecology, Northwestern University Feinberg School of Medicine, Chicago, IL., Gregg AR; Department of Obstetrics and Gynecology, Prisma Health, Columbia, SC.

مؤلفون مشاركون: ACMG Laboratory Quality Assurance Committee. Electronic address: documents@acmg.net; American College of Medical Genetics and Genomics, Bethesda, MD.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul; Vol. 26 (7), pp. 101137. Date of Electronic Publication: 2024 May 30.

نوع المنشور: Journal Article; Practice Guideline

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Carrier Screening*/methods , Genetic Carrier Screening*/standards , Genomics*/methods , Genomics*/standards , Prenatal Diagnosis*/methods , Prenatal Diagnosis*/standards , Genetic Testing*/standards , Genetic Testing*/methods , Genetics, Medical*/standards, Humans ; Pregnancy ; Female ; United States ; Preconception Care/methods ; Preconception Care/standards ; Genetic Counseling/standards ; Genetic Counseling/methods

المؤلفون: Elson J, Drakeley A, Achilli C, Canham N, Kulke C

مؤلفون مشاركون: Royal College of Obstetricians and Gynaecologists

المصدر: BJOG : an international journal of obstetrics and gynaecology [BJOG] 2024 Sep; Vol. 131 (10), pp. e81-e85. Date of Electronic Publication: 2024 Jun 05.

نوع المنشور: Journal Article; Editorial

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 100935741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1471-0528 (Electronic) Linking ISSN: 14700328 NLM ISO Abbreviation: BJOG Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Carrier Screening*/methods, Humans ; Female ; Male ; Reproductive Medicine ; Genetic Testing/methods ; Cystic Fibrosis/genetics ; Cystic Fibrosis/diagnosis ; Pregnancy ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/genetics ; Genetic Counseling

المؤلفون: Dioun SM; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, New York, NY; NewYork-Presbyterian Hospital, New York, NY. Electronic address: sd3411@cumc.columbia.edu., Perez LR; Weill Cornell Medicine, New York, NY., Prabhu M; Massachusetts General Hospital, Boston, MA; Harvard Medical School, Boston, MA., Brewer JT; Weill Cornell Medicine, New York, NY., Ahsan MD; Weill Cornell Medicine, New York, NY., Hou JY; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, New York, NY; NewYork-Presbyterian Hospital, New York, NY., Sharaf RN; NewYork-Presbyterian Hospital, New York, NY., Wright JD; Division of Gynecologic Oncology, Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, New York, NY; NewYork-Presbyterian Hospital, New York, NY., Frey MK; NewYork-Presbyterian Hospital, New York, NY; Weill Cornell Medicine, New York, NY.

المصدر: American journal of obstetrics and gynecology [Am J Obstet Gynecol] 2024 Sep; Vol. 231 (3), pp. 330.e1-330.e14. Date of Electronic Publication: 2024 Apr 14.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 0370476 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6868 (Electronic) Linking ISSN: 00029378 NLM ISO Abbreviation: Am J Obstet Gynecol Subsets: MEDLINE

مواضيع طبية MeSH: Cost-Benefit Analysis* , Genetic Carrier Screening*/methods , Breast Neoplasms*/genetics , Breast Neoplasms*/prevention & control , Breast Neoplasms*/diagnosis , Genetic Testing*/economics , Genetic Testing*/methods , Markov Chains*, Humans ; Female ; Pregnancy ; Quality-Adjusted Life Years ; Adult ; Decision Support Techniques ; Ovarian Neoplasms/prevention & control ; Ovarian Neoplasms/genetics ; Ovarian Neoplasms/diagnosis ; Genes, BRCA1 ; Prenatal Diagnosis/economics ; Prenatal Diagnosis/methods ; Middle Aged ; BRCA1 Protein/genetics ; Early Detection of Cancer/economics ; Early Detection of Cancer/methods

المؤلفون: van den Heuvel LM; Department of Genetics, University Medical Centre Groningen/University of Groningen, Groningen, The Netherlands.; Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Woudstra AJ; Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., van der Hout S; Department of Health, Ethics & Society, Maastricht University Medical Centre/Maastricht University, Maastricht, The Netherlands., Jans S; Department of Child Health, TNO, Leiden, The Netherlands., Wiersma T; Dutch College of General Practitioners, Utrecht, The Netherlands., Dondorp W; Department of Health, Ethics & Society, Maastricht University Medical Centre/Maastricht University, Maastricht, The Netherlands., Birnie E; Department of Genetics, University Medical Centre Groningen/University of Groningen, Groningen, The Netherlands., Lakeman P; Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Henneman L; Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Vrije Universiteit, Amsterdam, The Netherlands., Plantinga M; Department of Genetics, University Medical Centre Groningen/University of Groningen, Groningen, The Netherlands., van Langen IM; Department of Genetics, University Medical Centre Groningen/University of Groningen, Groningen, The Netherlands.

المصدر: Family practice [Fam Pract] 2024 Aug 14; Vol. 41 (4), pp. 571-578.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 8500875 Publication Model: Print Cited Medium: Internet ISSN: 1460-2229 (Electronic) Linking ISSN: 02632136 NLM ISO Abbreviation: Fam Pract Subsets: MEDLINE

مواضيع طبية MeSH: Focus Groups* , Attitude of Health Personnel* , Genetic Carrier Screening*, Humans ; Female ; Male ; Netherlands ; Adult ; Primary Health Care ; Midwifery ; Middle Aged ; General Practitioners ; Pregnancy

المؤلفون: Capalbo A; Juno Genetics, Rome, Italy; Unit of Molecular Genetics, Center for Advanced Studies and Technology (CAST), 'G. D'Annunzio' University of Chieti-Pescara, Chieti, Italy., Pla J; Reproductive Genetics Unit, IVIRMA Global, Barcelona, Spain., Janssens S; Center of Medical Genetics, University Hospital Ghent, Ghent University, Ghent, Belgium., Accoe D; Department of Philosophy and Moral Sciences, Ghent University, Ghent, Belgium., Pennings G; Department of Public Health and Primary Care, Ghent University, Ghent, Belgium., Mertes H; Department of Philosophy and Moral Sciences, Ghent University, Ghent, Belgium; Department of Public Health and Primary Care, Ghent University, Ghent, Belgium.

المصدر: Fertility and sterility [Fertil Steril] 2024 Aug; Vol. 122 (2), pp. 220-227. Date of Electronic Publication: 2024 Jun 27.

نوع المنشور: Editorial

بيانات الدورية: Publisher: Elsevier for the American Society for Reproductive Medicine Country of Publication: United States NLM ID: 0372772 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-5653 (Electronic) Linking ISSN: 00150282 NLM ISO Abbreviation: Fertil Steril Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Carrier Screening*/methods, Humans ; Female ; Male ; Tissue Donors ; Germ Cells ; Genetic Testing/methods ; Oocyte Donation

المؤلفون: van Wely M; Amsterdam UMC, Amsterdam Medical Center, Center for Reproductive Medicine, Amsterdam, the Netherlands. Electronic address: m.vanwely@amsterdamumc.nl.

المصدر: Fertility and sterility [Fertil Steril] 2024 Aug; Vol. 122 (2), pp. 219. Date of Electronic Publication: 2024 Jun 29.

نوع المنشور: Journal Article; Editorial

بيانات الدورية: Publisher: Elsevier for the American Society for Reproductive Medicine Country of Publication: United States NLM ID: 0372772 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1556-5653 (Electronic) Linking ISSN: 00150282 NLM ISO Abbreviation: Fertil Steril Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Carrier Screening*/methods, Humans ; Female ; Male ; Risk Factors ; Tissue Donors ; Oocyte Donation/adverse effects ; Germ Cells ; Risk Assessment ; Genetic Testing/methods

المؤلفون: Capalbo A; Department of Reproductive Genetics, Juno Genetics, Rome, Italy.; Unit of Medical Genetics, Centre for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, Chieti, Italy., de Wert G; Department of Health, Ethics and Society, Faculty of Health, Medicine and Life Sciences, Maastricht University, Maastricht, The Netherlands.; Department of Health, Ethics and Society, CAPHRI Care and Public Health Research Institute, Maastricht University, Maastricht, The Netherlands.; GROW School for Oncology and Reproduction, Maastricht University, Maastricht, The Netherlands., Henneman L; Department of Human Genetics and Amsterdam Reproduction and Development Research Institute, Amsterdam UMC, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Kakourou G; Laboratory of Medical Genetics, Choremio Research Laboratory, National and Kapodistrian University of Athens, 'Agia Sophia' Children's Hospital, Athens, Greece., Mcheik S; ESHRE Central Office, Strombeek-Bever, Belgium., Peterlin B; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., van El C; Department of Human Genetics, Amsterdam Public Health Research Institute, Amsterdam UMC, Location Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Vassena R; Fecundis, Barcelona, Spain., Vermeulen N; ESHRE Central Office, Strombeek-Bever, Belgium., Viville S; Department of Developmental Biology, Institute of Genetics and Molecular and Cellular Biology, University of Strasbourg, Strasbourg, France.; Department of Functional Genomics and Cancer, CNRS UMR 7104-INSERM U1258 Illkrich-Graffenstaden France.; Laboratory of Genetic Diagnostic, Genetics of Infertility Unit (UF3472), Strasbourg University Hospital, Strasbourg, France., Forzano F; Department of Clinical Genetics, Guy's and St Thomas NHS Foundation Trust, London, UK.

المصدر: Human reproduction (Oxford, England) [Hum Reprod] 2024 Aug 01; Vol. 39 (8), pp. 1844-1855.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Oxford University Press Country of Publication: England NLM ID: 8701199 Publication Model: Print Cited Medium: Internet ISSN: 1460-2350 (Electronic) Linking ISSN: 02681161 NLM ISO Abbreviation: Hum Reprod Subsets: MEDLINE

مواضيع طبية MeSH: Reproductive Techniques, Assisted*/statistics & numerical data , Genetic Carrier Screening*/methods, Humans ; Cross-Sectional Studies ; Female ; Europe ; Surveys and Questionnaires ; Genetic Testing/methods ; Genetic Testing/statistics & numerical data ; Male ; Adult ; Attitude of Health Personnel

المؤلفون: Dotan M; Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Blau H; Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Singer A; Public Health Services, Ministry of Health, Jerusalem, Israel., Stafler P; Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Prais D; Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Cohen-Cymberknoh M; Pediatric Pulmonary Unit and Cystic fibrosis Center, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel., Reiter J; Pediatric Pulmonary Unit and Cystic fibrosis Center, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel., Efrati O; Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Dagan A; Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel., Bentur L; Pediatric Pulmonary Institute and CF Center, Rambam Health Care Campus, Rappaport Children's Hospital, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Gur M; Pediatric Pulmonary Institute and CF Center, Rambam Health Care Campus, Rappaport Children's Hospital, Haifa, Israel; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Livnat G; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Pediatric Pulmonology Unit and CF center, Carmel Medical Center, Haifa, Israel., Yaacoby-Bianu K; Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel; Pediatric Pulmonology Unit and CF center, Carmel Medical Center, Haifa, Israel., Aviram M; Soroka University Medical Center, Pediatric Pulmonary Unit, Ben Gurion University, Beer Sheva, Israel., Golan Tripto I; Soroka University Medical Center, Pediatric Pulmonary Unit, Ben Gurion University, Beer Sheva, Israel., Bar-On O; Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Matar R; Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel., Hagit S; Danek Gertner Institute of Human Genetics, Sheba Medical Center, Ramat-Gan, Israel., Malcov M; Wolfe PGD-Stem Cell Laboratory, Racine IVF Unit, Lis Maternity Hospital, Tel-Aviv Sourasky Medical Center, Tel Aviv, Israel., Altarescu G; Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel., Segev H; Medical Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Feldman B; PGD Program and Laboratory, Assuta Medical Center, Tel Aviv, Israel., Kerem E; Pediatric Pulmonary Unit and Cystic fibrosis Center, Hadassah Medical Center and Faculty of Medicine, Hebrew University of Jerusalem, Israel., Mei-Zahav M; Kathy and Lee Graub Cystic Fibrosis Center, Schneider Children's Medical Center of Israel, Petach Tikva, Israel; Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel. Electronic address: meir_zahav@clalit.org.il.

المصدر: Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society [J Cyst Fibros] 2024 Jul; Vol. 23 (4), pp. 782-787. Date of Electronic Publication: 2023 Nov 18.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101128966 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5010 (Electronic) Linking ISSN: 15691993 NLM ISO Abbreviation: J Cyst Fibros Subsets: MEDLINE

مواضيع طبية MeSH: Cystic Fibrosis*/genetics , Cystic Fibrosis*/diagnosis , Cystic Fibrosis*/epidemiology , Genetic Carrier Screening*/methods, Humans ; Retrospective Studies ; Female ; Israel/epidemiology ; Male ; Infant, Newborn ; Infant ; Genetic Testing/methods ; Genetic Testing/statistics & numerical data ; Child ; Registries ; Pregnancy ; Cystic Fibrosis Transmembrane Conductance Regulator/genetics ; Preimplantation Diagnosis/statistics & numerical data ; Preimplantation Diagnosis/methods

المؤلفون: Kandolin M; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Department of Clinical Genetics, HUSLAB, Diagnostic Center, HUH, Helsinki, Finland., Pöyhönen M; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Department of Clinical Genetics, HUSLAB, Diagnostic Center, HUH, Helsinki, Finland., Jakkula E; Department of Medical and Clinical Genetics, University of Helsinki, Helsinki, Finland.; Department of Clinical Genetics, HUSLAB, Diagnostic Center, HUH, Helsinki, Finland.

المصدر: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63588. Date of Electronic Publication: 2024 Mar 08.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Carrier Screening*/methods , Genetic Testing*/methods , Jews*/genetics , White People*/genetics , European People*/genetics, Female ; Humans ; Male ; Pregnancy ; Databases, Genetic ; Finland/epidemiology ; Gene Frequency ; Genes, Recessive/genetics ; Genetic Diseases, Inborn/genetics ; Genetic Diseases, Inborn/epidemiology ; Genetic Diseases, Inborn/diagnosis ; Genomics/methods ; Heterozygote

المؤلفون: Klein D; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., van Dijke I; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands; Centre for Reproductive Medicine, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands., van Langen IM; Department of Genetics, University Medical Centre Groningen, University of Groningen, Groningen, the Netherlands., Dondorp W; Department of Health, Ethics and Society, Care and Public Health Research Institute, Maastricht University Medical Centre, Maastricht University, Maastricht, the Netherlands., Lakeman P; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centre, University of Amsterdam, Amsterdam, the Netherlands., Henneman L; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands. Electronic address: l.henneman@amsterdamumc.nl., Cornel MC; Department of Human Genetics, Amsterdam Reproduction and Development Research Institute, Amsterdam University Medical Centre, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands.

المصدر: Reproductive biomedicine online [Reprod Biomed Online] 2024 Jul; Vol. 49 (1), pp. 103857. Date of Electronic Publication: 2024 Feb 03.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101122473 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1472-6491 (Electronic) Linking ISSN: 14726483 NLM ISO Abbreviation: Reprod Biomed Online Subsets: MEDLINE

مواضيع طبية MeSH: Fertility Clinics* , Qualitative Research* , Attitude of Health Personnel* , Genetic Carrier Screening*/methods, Humans ; Female ; Male ; Health Personnel/psychology ; Netherlands ; Adult ; Genetic Counseling/psychology