Description
透过基因检测了解自身是否带有遗传疾病相关基因变异,提早做好准备,降低生下异常胎儿的风险。
概述
什么是遗传疾病带因?
人体共有46条染色体,两两成对共有23对。疾病带因指一对染色体中其中一条染色体上带有与隐性遗传疾病相关的基因突变,这样的个案我们称为带因者。因为只有一条染色体有基因变异,另一条正常,所以带因者通常健康与外观上都无异常。
若父母亲同时为同一种疾病的带因者,小孩就可能同时遗传到双方的异常基因而患病,且隐性遗传病难以透过一般常规产前检测发现,因此常到了出生后才被发现异常。
所以容易导致爸妈健康,却生下患病小孩的情形,对于任何爸爸妈妈来说是措手不及的情况。而这些遗传疾病,往往需要终身的治疗与照护,甚至会威胁到小孩的生命,对任何爸妈来说都是沉重的负担。
您知道吗?
References:
- http://www.who.int/genomics/public/geneticdiseases
- PLoS Curr. 2012 May 2:e4f9877ab8ffa9
- The American Journal of Human Genetics 91, 1022–1032, 2012.
为什么我需要做Expanded Carrier Screening?
许多常见的“隐性”遗传疾病,带因者不会有明显症状,不知道自己带有这样的疾病,可以像正常人一样生活。若父母亲同时为同一种疾病的带因者,他们的孩子会有25%会遗传到双方的异常基因而患病。
Expanded Carrier Screening可帮助计划怀孕或已怀孕的夫妇,了解自身是否带有遗传疾病相关基因变异,提早做好准备,降低生下异常胎儿的风险。
Expanded Carrier Screening适合对象:
- 想了解自己是否为隐性遗传疾病带因者
- 有遗传疾病家族史
- 计划怀孕的夫妻/ 已怀孕的夫妻
- 血缘关系较近的夫妻
- 精卵捐赠者
检测过程:

为什么选择GGA?
检测项目包含::
What should I do if my partner and I both have family history of genetic condition?
If one or both prospective parents have a family history of a common, inherited genetic condition and the couple has decided to undergo carrier screening.
I don’t have a family history of any genetic conditions. Should I still be tested?
Yes. From research, the average individual might carry more than 2 disease-causing gene. Besides, there are more than 80% affected children have no family history. Even if you have other children who are healthy, this cannot rule out the possibility you or your partner could be carriers for a genetic condition.
When can carrier screening be done?
Some people decide to have carrier screening before having children. Carrier screening also can be done during pregnancy. Getting tested before pregnancy gives you a greater range of options and more time to make decisions.
What is a recessive disorder?
Most carrier screening is for recessive disorders. It takes two genes—one inherited from the mother and one inherited from the father—for a person to get a recessive disorder. If a person has only one gene for a disorder, he or she is known as a carrier. Carriers often do not know that they have a gene for a disorder. They usually do not have symptoms or have only mild symptoms.
What are the chances of having a child with a recessive disorder?
If both parents are carriers of a recessive gene for a disorder, there is a 25% (1-in-4) chance that their child will get the gene from each parent and will have the disorder. There is a 50% (1-in-2) chance that the child will be a carrier of the disorder—just like the carrier parents. If only one parent is a carrier, there is a 50% (1-in-2) chance that the child will be a carrier of the disorder.
Who should be tested first? Male or female?
This is flexible. However, in the cases where there is no family history of genetic disease, testing the female first is recommended due to the assessment of X-linked disorders (as male only have one X chromosome, they already be impacted if they are carrying such variants).
What should I do if my partner and I both are positive for a condition?
- If you’re planning a pregnancy, you can consider In Vitro Fertilization (IVF). During the IVF process, physician will select embryos free of genetic problems through Ultra PGD/ PGT-A to implant. You can also consider other options such as implant donor’s egg or sperm which is not a carrier for the same condition.
- If you’re already pregnant, you can do a diagnostic test such as amniocentesis to determine if the inherited disease was passed on to your child. Discuss with your physician for the follow up treatment.
Should I have carrier screening if I am using donor eggs/sperm?
Yes. Carrier screening could help you to check whether you are the carrier of the same disease with donor, especially from an anonymous donor.
检测配套升级
Personal Genetic Databank
依照您的需求,GGA提供多样化的检测内容。您可以升级您的检测配套,帮助您了解心血管疾病风险 cardiometabolic risk and hereditary cancer risk.
