Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
In: Journal of Medical Genetics, Jg. 59 (2021), Heft 10, S. 931-937
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Zugriff:
Purpose and scope The aim of this position statement is to provide recommendations for Canadian healthcare professionals regarding the use of genome-wide sequencing (GWS) in the context of diagnostic testing of the fetus during pregnancy. This statement was developed to facilitate clinical translation of GWS as a prenatal diagnostic test and the development of best practices in Canada, but the applicability of this document is broader and aims to help professionals in other healthcare systems. Methods of statement development A multidisciplinary group was assembled to review existing literature on fetal GWS for genetic diagnosis in the context of suspected monogenic diseases and to make recommendations relevant to the Canadian context. The statement was circulated for comments to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors on 19 February 2021. Results and conclusions The use of prenatal GWS is indicated for the investigation of multiple fetal anomalies. Its use in the context of isolated fetal anomaly should be guided by available resources and current evidence, which is continually changing. During pregnancy, GWS should be ordered by, or in collaboration with, a medical geneticist. It should be used following detailed phenotyping to interrogate known disease genes, preferably using a trio approach, following detailed fetal phenotyping. Testing should be done with an overall aim to help in the management of the pregnancy, delivery and postnatal care. It should be guided by personal utility of the test for the pregnant person and clinical utility for pregnancy and birth management, as outlined herein. Genetic counselling is crucial in making the parental decision an informed decision. Chromosomal microarray analysis should be completed in parallel or prior to GWS and should be preceded by Quantitative Fluorescent PCR (QF-PCR) for detection of common aneuploidies. In normal circumstances, only pathogenic ...
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Clinical application of fetal genome-wide sequencing during pregnancy: position statement of the Canadian College of Medical Geneticists
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Autor/in / Beteiligte Person: | Lazier, Joanna ; Hartley, Taila ; Brock, Jo-Ann ; Caluseriu, Oana ; Chitayat, David ; Laberge, Anne-Marie ; Langlois, Sylvie ; Lauzon, Julie ; Nelson, Tanya N ; Parboosingh, Jillian ; Stavropoulos, Dimitri J ; Boycott, Kym ; Armour, Christine M ; Canada, Genome ; CIHR |
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Zeitschrift: | Journal of Medical Genetics, Jg. 59 (2021), Heft 10, S. 931-937 |
Veröffentlichung: | BMJ, 2021 |
Medientyp: | academicJournal |
ISSN: | 0022-2593 |
DOI: | 10.1136/jmedgenet-2021-107897 |
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