Journal of Genetic Counseling

, Volume 11, Issue 2, pp 97–119

Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

Authors

    • Department of Medicine, Division of Medical GeneticsUniversity of Washington
  • Arno G. Motulsky
    • Department of Medicine, Division of Medical GeneticsUniversity of Washington
  • Alan Bittles
    • Centre for Human GeneticsEdith Cowan University
  • Louanne Hudgins
    • Department of Pediatrics, Division of Medical GeneticsStanford University
  • Stefanie Uhrich
    • Department of Obstetrics and Gynecology, Division of Medical GeneticsUniversity of Washington
  • Debra Lochner Doyle
    • Genetic Services Section, Washington State Department of Health
  • Kerry Silvey
    • Pacific Northwest Regional Genetics Group, Child Development and Rehabilitation CenterOregon Health Sciences University
  • C. Ronald Scott
    • Department of Medicine, Division of Medical GeneticsUniversity of Washington
    • Department of PediatricsUniversity of Washington
  • Edith Cheng
    • Department of Medicine, Division of Medical GeneticsUniversity of Washington
  • Barbara McGillivray
    • Department of Medical GeneticsChildren's and Women's Health Centre of British Columbia
  • Robert D. Steiner
    • Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation CenterDoernbecher Children's Hospital, Oregon Health & Science University
  • Debra Olson
    • Department of Medicine, Division of Medical GeneticsUniversity of Washington
Article

DOI: 10.1023/A:1014593404915

Cite this article as:
Bennett, R.L., Motulsky, A.G., Bittles, A. et al. Journal of Genetic Counseling (2002) 11: 97. doi:10.1023/A:1014593404915

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 of

1. providing preconception reproductive options

2. improving pregnancy outcome and identifying reproductive choices

3. reducing morbidity and mortality in the 1st years of life, and

4. 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.

consanguinitygenetic counselinggenetic screeninggenetic testingincestnewborn screeningtandem mass spectrometry
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Copyright information

© National Society of Genetic Counselors, Inc. 2002