Genetics Department, California Cryobank, 11915 La Grange Avenue, Los Angeles, California 90025, USA.
Fertil Steril. 2010 Feb;93(3):1006.e1-2. doi: 10.1016/j.fertnstert.2009.10.039. Epub 2009 Dec 3.
To discuss the diagnosis of spinal muscular atrophy in a child conceived using donor gametes.
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PATIENT(S): Offspring of gamete donors.
INTERVENTION(S): None.
MAIN OUTCOME MEASURE(S): None.
RESULT(S): A child conceived using gametes from anonymous sperm and ova donors was diagnosed with spinal muscular atrophy type 1.
CONCLUSION(S): Gamete donor facilities are not required to perform extensive genetic testing on their donors; however, the well-being of the children conceived through assisted reproductive technologies should be a primary objective of reproductive medicine. The risk for specific medical problems in donor offspring can be significantly reduced by incorporating carrier screening for common, severe disorders such as spinal muscular atrophy into donor screening practices. Future efforts should focus on communicating the limitations of genetic screening to donor gamete recipients and educating them about their reproductive options.
讨论使用配子供体孕育的儿童的脊肌萎缩症诊断。
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配子供体的后代。
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一名使用匿名精子和卵子供体的配子孕育的儿童被诊断为 1 型脊肌萎缩症。
配子供体机构不需要对其供体进行广泛的基因检测；然而，通过辅助生殖技术孕育的儿童的健康应该是生殖医学的首要目标。通过将脊肌萎缩症等常见严重疾病的携带者筛查纳入供体筛查实践，可以显著降低供体后代特定医疗问题的风险。未来的努力应集中在向配子供体受者传达遗传筛查的局限性，并教育他们有关其生殖选择。
