- What is genetic carrier screening?
- What conditions does genetic carrier screening detect?
- What are my screening options?
- What kind of results might I receive?
- Do I need genetic carrier screening?
- Which conditions are included in expanded carrier screening?
- What are the next steps after a positive test result?
- Are there risks associated with carrier screening?
FAQ: Genetic Carrier Screening
What is genetic carrier screening?
携带者筛查是一项可选测试,用于了解某人是否携带可能增加其亲生子女遗传疾病风险的基因突变. 虽然携带者可以将疾病传播,但大多数人不会出现这种疾病的症状. 携带者筛查不是对个人或妊娠进行全面的健康风险评估.
Pregnancies begin in many ways, and each family is unique. To obtain useful genetic information, 重要的是要评估卵子将被受精的人(卵子捐献者)和精子将使卵子受精的人(精子捐献者).
基因携带者筛查可以使用血液或唾液样本进行.
What conditions does genetic carrier screening detect?
基因是成对的,分别从亲生父母那里遗传一个拷贝. 如果亲生父母都是同一种遗传病的携带者, 每次怀孕都有四分之一(25%)的几率出现这种情况.
大多数情况下检测到的携带者筛查是遗传常染色体隐性方式, 也就是说父母双方都有一个突变基因导致了怀孕.
携带者筛查还可以检测由X染色体(两条性染色体之一)基因突变引起的隐性疾病。. 如果提供卵子的人是携带者,这些情况最有可能造成怀孕风险.
What are my screening options?
All genetic tests are optional for every patient. You may choose any of the following:
- Basic carrier screening. Carrier screening for cystic fibrosis (CF), 脊髓性肌萎缩症(SMA)和某些种族人群中更常见的疾病
- Expanded carrier screening. 超过100种遗传十大赌博靠谱网络平台的携带者筛查,包括CF和SMA
- No carrier screening. Some people choose not to have carrier screening because:
- 怀孕与携带它的人没有遗传关系.
- The sperm contributor is not available for testing.
- 他们不想知道怀孕期间某些遗传疾病的估计风险.
What kind of results might I receive?
When screened for a large group of conditions, 超过一半的人发现他们携带至少一种遗传疾病.
- Positive. 阳性结果意味着您是所列特定病症的携带者. 因为大多数情况是隐性的(只有从亲生父母双方遗传时才会表现出来), 了解亲生父母双方的携带状况对于估计怀孕期间发生这种情况的几率很重要.
- Negative. 阴性结果意味着您不是所列特定病症的携带者. 检测结果为阴性的人仍然有很小的可能性是携带者, because screening doesn't detect all carriers.
Do I need genetic carrier screening?
如果你没有家族遗传病史,你可能想知道是否要进行携带者筛查. Carrier screening is always optional. However, 没有家族成员患有遗传性疾病并不会降低你成为携带者的几率. Because these conditions are recessive, 它们可以在没有明显症状的情况下代代相传.
Which conditions are included in expanded carrier screening?
扩展的载体筛选可以检测100多种疾病. 要查看完整的列表,请访问执行测试的实验室网站.
What are the next steps after a positive test result?
If a result indicates that you carry a genetic condition, 将为另一位亲生父母提供携带者筛查. 如果发现父母双方都携带相同的疾病,你会被转介到加州大学旧金山分校 Prenatal Diagnostic Center to speak with a genetic counselor. 这是一个专业的人,他可以帮助你解释你的测试结果,这样你就可以做出明智的决定.
Are there risks associated with carrier screening?
As with any genetic testing, 携带者筛查有可能会揭示有关你健康状况的新信息. For example, 你可能被诊断出患有遗传疾病或收到其他意想不到的个人健康信息. Genetic counselors can help you understand, 处理和跟进从基因携带者筛选中获得的信息.
加州大学旧金山分校健康医学专家已经审查了这些信息. 它仅用于教育目的,并不打算取代您的十大赌博平台排行榜或其他医疗保健提供者的建议. 我们鼓励您与您的供应商讨论您可能遇到的任何问题或疑虑.