Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors |
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| Authors: | Robin L Bennett Arno G Motulsky Alan Bittles Louanne Hudgins Stefanie Uhrich Debra Lochner Doyle Kerry Silvey C Ronald Scott Edith Cheng Barbara McGillivray Robert D Steiner Debra Olson |
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| Institution: | (1) Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington;(2) Centre for Human Genetics, Edith Cowan University, Perth, Australia;(3) Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California;(4) Department of Obstetrics and Gynecology, Division of Medical Genetics, University of Washington, Seattle, Washington;(5) Genetic Services Section, Washington State Department of Health, Seattle, Washington;(6) Pacific Northwest Regional Genetics Group, Child Development and Rehabilitation Center, Oregon Health Sciences University, Eugene, Oregon;(7) Department of Pediatrics, University of Washington, Seattle, Washington;(8) Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada;(9) Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, Oregon |
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| Abstract: | The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal–fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations. |
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| Keywords: | consanguinity genetic counseling genetic screening genetic testing incest newborn screening tandem mass spectrometry |
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