Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Christine M Armour¹, Shelley Danielle Dougan², Jo-Ann Brock^{3

4}, Radha Chari⁵, Bernie N Chodirker^{6

7}, Isabelle DeBie⁸, Jane A Evans⁷, William T Gibson^{9

10}, Elena Kolomietz¹¹, Tanya N Nelson^{9

12

13}, Frédérique Tihy¹⁴, Mary Ann Thomas^{15

16}, Dimitri J Stavropoulos¹⁷; On-Behalf-Of the Canadian College of Medical Geneticists

Affiliations

¹ Department of Genetics, Children's Hospital of Eastern and Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
² BORN Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
³ Departments of Obstetrics and Gynecology, Dalhousie University Medical School, Halifax, Nova Scotia, Canada.
⁴ Department of Laboratory Medicine, Dalhousie University Medical School, Halifax, Nova Scotia, Canada.
⁵ Department of Obstetrics and Gynecology, University of Alberta, Edmonton, Alberta, Canada.
⁶ Department of Pediatrics and Child Health, Max Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
⁷ Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
⁸ Department of Medical Genetics and Core Molecular Diagnostic Laboratory, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.
⁹ Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
¹⁰ Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
¹¹ Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
¹² Department of Pathology and Laboratory Medicine, BC Children's and BC Women's Hospitals, Vancouver, British Columbia, Canada.
¹³ Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
¹⁴ Service de Génétique Médicale, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.
¹⁵ Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.
¹⁶ Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.
¹⁷ Genome Diagnostics, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

PMID: 29496978
PMCID: PMC5869456
DOI: 10.1136/jmedgenet-2017-105013

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Christine M Armour et al. J Med Genet. 2018 Apr.

. 2018 Apr;55(4):215-221.

doi: 10.1136/jmedgenet-2017-105013. Epub 2018 Mar 1.

Authors

Affiliations

¹ Department of Genetics, Children's Hospital of Eastern and Children's Hospital of Eastern Ontario Research Institute, Ottawa, Ontario, Canada.
² BORN Ontario, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.
³ Departments of Obstetrics and Gynecology, Dalhousie University Medical School, Halifax, Nova Scotia, Canada.
⁴ Department of Laboratory Medicine, Dalhousie University Medical School, Halifax, Nova Scotia, Canada.
⁵ Department of Obstetrics and Gynecology, University of Alberta, Edmonton, Alberta, Canada.
⁶ Department of Pediatrics and Child Health, Max Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
⁷ Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, University of Manitoba, Winnipeg, Manitoba, Canada.
⁸ Department of Medical Genetics and Core Molecular Diagnostic Laboratory, McGill University Health Centre, McGill University, Montreal, Quebec, Canada.
⁹ Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada.
¹⁰ Department of Medical Genetics, BC Children's Hospital Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.
¹¹ Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.
¹² Department of Pathology and Laboratory Medicine, BC Children's and BC Women's Hospitals, Vancouver, British Columbia, Canada.
¹³ Department of Pathology and Laboratory Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
¹⁴ Service de Génétique Médicale, CHU Sainte-Justine, Université de Montréal, Montreal, Quebec, Canada.
¹⁵ Department of Medical Genetics, University of Calgary, Calgary, Alberta, Canada.
¹⁶ Alberta Children's Hospital Research Institute for Child and Maternal Health, University of Calgary, Calgary, Alberta, Canada.
¹⁷ Genome Diagnostics, Department of Pediatric Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

PMID: 29496978
PMCID: PMC5869456
DOI: 10.1136/jmedgenet-2017-105013

Abstract

Background: The aim of this guideline is to provide updated recommendations for Canadian genetic counsellors, medical geneticists, maternal fetal medicine specialists, clinical laboratory geneticists and other practitioners regarding the use of chromosomal microarray analysis (CMA) for prenatal diagnosis. This guideline replaces the 2011 Society of Obstetricians and Gynaecologists of Canada (SOGC)-Canadian College of Medical Geneticists (CCMG) Joint Technical Update.

Methods: A multidisciplinary group consisting of medical geneticists, genetic counsellors, maternal fetal medicine specialists and clinical laboratory geneticists was assembled to review existing literature and guidelines for use of CMA in prenatal care and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the CCMG membership-at-large for feedback and, following incorporation of feedback, was approved by the CCMG Board of Directors on 5 June 2017 and the SOGC Board of Directors on 19 June 2017.

Results and conclusions: Recommendations include but are not limited to: (1) CMA should be offered following a normal rapid aneuploidy screen when multiple fetal malformations are detected (II-1A) or for nuchal translucency (NT) ≥3.5 mm (II-2B) (recommendation 1); (2) a professional with expertise in prenatal chromosomal microarray analysis should provide genetic counselling to obtain informed consent, discuss the limitations of the methodology, obtain the parental decisions for return of incidental findings (II-2A) (recommendation 4) and provide post-test counselling for reporting of test results (III-A) (recommendation 9); (3) the resolution of chromosomal microarray analysis should be similar to postnatal microarray platforms to ensure small pathogenic variants are detected. To minimise the reporting of uncertain findings, it is recommended that variants of unknown significance (VOUS) smaller than 500 Kb deletion or 1 Mb duplication not be routinely reported in the prenatal context. Additionally, VOUS above these cut-offs should only be reported if there is significant supporting evidence that deletion or duplication of the region may be pathogenic (III-B) (recommendation 5); (4) secondary findings associated with a medically actionable disorder with childhood onset should be reported, whereas variants associated with adult-onset conditions should not be reported unless requested by the parents or disclosure can prevent serious harm to family members (III-A) (recommendation 8).The working group recognises that there is variability across Canada in delivery of prenatal testing, and these recommendations were developed to promote consistency and provide a minimum standard for all provinces and territories across the country (recommendation 9).

Keywords: chromosomal microarray; guideline; prenatal diagnosis.

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Conflict of interest statement

Competing interests: None declared.

References

1. Langlois S, Duncan A. SOGC Genetics Committee, CCMG Prenatal Diagnosis Committee. Use of a DNA method, QF-PCR, in the prenatal diagnosis of fetal aneuploidies. J Obstet Gynaecol Can 2011;33:955–60. 10.1016/S1701-2163(16)35022-8 - DOI - PubMed
1. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, Scherer SW, Spinner NB, Stavropoulos DJ, Tepperberg JH, Thorland EC, Vermeesch JR, Waggoner DJ, Watson MS, Martin CL, Ledbetter DH. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749–64. 10.1016/j.ajhg.2010.04.006 - DOI - PMC - PubMed
1. Stavropoulos DJ, Shago M. Genomic microarray testing – CCMG guideline. 2016. https://www.ccmg-ccgm.org/images/job_postngs/CCMG_Guidelines_for_Genomic... (accessed 1 May 2017).
1. Woolf S, Battista R, Angerson G, Logan A, Eel W; Canadian Task Force on Preventive Health Care. New grades for recommendations from the Canadian Task Force on Preventive Health Care. CMAJ 2003;169:207–8. - PMC - PubMed
1. Wilson RD, De Bie I, Armour CM, Brown RN, Campagnolo C, Carroll JC, Okun N, Nelson T, Zwingerman R, Audibert F, Brock JA, Brown RN, Campagnolo C, Carroll JC, De Bie I, Johnson JA, Okun N, Pastruck M, Vallée-Pouliot K, Wilson RD, Zwingerman R, Armour C, Chitayat D, De Bie I, Fernandez S, Kim R, Lavoie J, Leonard N, Nelson T, Taylor S, Van Allen M, Van Karnebeek C. Joint SOGC-CCMG opinion for reproductive genetic carrier screening: an update for all Canadian providers of maternity and reproductive healthcare in the era of direct-to-consumer testing. J Obstet Gynaecol Can 2016;38:742–62. 10.1016/j.jogc.2016.06.008 - DOI - PubMed

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Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Affiliations

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada

Authors

Affiliations

Abstract

Conflict of interest statement

References

MeSH terms

LinkOut - more resources

Full Text Sources

Other Literature Sources

Medical

Research Materials

Miscellaneous