Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.
Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.
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DOI：
10.1023/a:1014593404915
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发表时间：
2002-04-01
影响因子：
1.9
通讯作者：
Olson, Debra
中科院分区：
文献类型：
--
作者：
Bennett, Robin L;Motulsky, Arno G;Olson, Debra
本文件的目的是提供建议，遗传咨询和筛选的近亲夫妇（有关作为第二堂兄弟姐妹或更密切）和他们的后代的目标1。提供孕前生育选择2.改善妊娠结果和确定生殖选择3.降低出生后第一年的发病率和死亡率;这些建议是一个多中心工作组（血缘关系工作组（CWG））的意见，该工作组具有遗传咨询，医学遗传学，生化遗传学，遗传流行病学，儿科学，围产期学和公共卫生遗传学方面的专业知识，由国家遗传咨询师协会（NSGC）召集。CWG和NSGC评审员的共识是，除了全面的家族病史和对重大发现的随访外，不建议对近亲夫妇进行额外的孕前筛查。近亲夫妇应提供类似的遗传筛查建议，为任何夫妇的种族群体。在妊娠期间，近亲夫妇应提供母儿血清标志物筛查和高分辨率胎儿超声检查。新生儿应筛查听力受损和检测可治疗的先天性代谢缺陷。这些建议不应被解释为规定了一个排他性的管理过程，使用这些建议也不能保证特定的结果。熟悉特定病例的事实和情况的医疗保健提供者的专业判断将始终取代这些建议。
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.