- What is cystic fibrosis?
- Is there treatment for cystic fibrosis?
- How is cystic fibrosis inherited?
- How do I know if I am a carrier of cystic fibrosis?
- If my test result is normal, can I still be a carrier?
- What does it mean if I am a carrier?
- Is prenatal testing available?
- Is cystic fibrosis tested on the newborn screen?
FAQ: Carrier Testing for Cystic Fibrosis
囊性纤维化(CF)是最常见的危及生命的遗传性疾病之一, affecting approximately 1 out of 3,300 people. The severity of CF varies, with some children showing symptoms at birth, 还有一些人直到青少年或成年人才被诊断出来.
In people with CF, 有缺陷的基因会导致身体产生不正常的脂肪, 黏液堵塞肺部,导致危及生命的肺部感染. These thick secretions also obstruct the pancreas, 阻止消化酶到达肠道帮助分解和吸收食物.
Cystic fibrosis does not affect intelligence. Most males with the condition are infertile.
Is there treatment for cystic fibrosis?
在过去的40年里,CF的治疗有了显著的进步,尽管目前还没有治愈的方法. Treatment includes antibiotics, 膳食酶补充和物理治疗,以帮助清理肺部. A lung transplant may be an option for some patients.
在过去,大多数CF患者没有达到成年期. 现在大多数人能活到30多岁,平均寿命约为37岁.
How is cystic fibrosis inherited?
囊性纤维化以常染色体隐性遗传方式遗传. 我们的基因是成对的,分别从父母那里遗传了一个拷贝. 有些基因发生了突变,不能正常工作. 拥有一个无功能基因副本的人是携带者. CF的携带者没有任何症状,但可以将无功能的基因传给他们的孩子. 一个人必须继承两个不起作用的CF基因——一个来自父母,一个来自父母——才能患有CF.
如果父母双方都是携带者,则有四分之一(25%)的机会将无效基因遗传给下一代, 哪一种会导致怀孕时患上囊性纤维化.
How do I know if I am a carrier of cystic fibrosis?
Carrier testing is available through a simple blood test. 有超过1000种突变被发现会导致CF. 其中最常见的可以做携带者筛查, 并将在高加索人群中识别出85%到90%的携带者. Carrier testing is also available for other ethnic groups, but the detection rates and carrier frequencies vary.
如果你的家族中没有人患有CF,那么你成为CF携带者的几率取决于你的祖先:
- European Caucasians, Ashkenazi Jews – 1 in 29
- Hispanic Americans – 1 in 46
- African Americans – 1 in 61
- Asian Americans – 1 in 90
如果你有CF家族史,无论你的祖先是谁,你的风险都可能更高.
If my test result is normal, can I still be a carrier?
Yes. If you have the test and no CF mutation is identified, 你成为CF携带者的机会会减少,但不会完全消除. 有些人携带一种罕见的CF突变,无法通过常规筛查检测到. 测试结果为阴性的人仍然有很小的机会成为CF携带者,并生下患有CF的孩子.
What does it mean if I am a carrier?
If you are a carrier, there is no impact on your health. 然而,你有可能生一个患有CF的孩子. 如果你的伴侣还没有做过带菌者筛查,就应该做.
If only one of you is found to be a carrier, the chance that you will have a child with CF is very low, although not completely eliminated. If you are both carriers, each pregnancy will have a 1 in 4, 或者有25%的几率罹患囊性纤维化.
Is prenatal testing available?
如果双方都是囊性纤维化的携带者,可以进行产前检查. Chorionic villus sampling (CVS) at 10 to 14 weeks or amniocentesis 在16至20周时,可以确定胎儿是否遗传了囊性纤维化基因突变的两个拷贝.
如果你和你的伴侣都是带菌者,并且你正在考虑怀孕, there are other options available. 你可以和遗传咨询师讨论这些问题.
Is cystic fibrosis tested on the newborn screen?
Yes. Before your baby leaves the hospital, 他或她的血液样本将被收集在一张滤纸上,用一个简单的鞋跟棒. 你的宝宝会被检查几种不同的情况,包括囊性纤维化.
For more information about cystic fibrosis, genetic counseling, or to arrange carrier or prenatal testing, please contact the Prenatal Diagnostic Center.
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.
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