The amount of information in our genetic code is astounding.
Our genes affect everything — from physical features such as eye and hair color to whether we may develop certain health concerns such as high blood pressure or even cancer. While a great deal of genetic testing is performed to evaluate personal health risks, individuals thinking about becoming parents have the option to screen for various genetic conditions that may affect their future children.
This type of testing is called carrier screening. Carrier screening is a blood test that checks to see if parents are carriers for certain genetic conditions. For most of the conditions, being a carrier is unlikely to cause a concern for their own health.
Find a genetic counselor:Carrier screening and more at Sanford Health
When someone is identified as a carrier, that means they have one copy of gene that is not working. If both parents carry the same genetic condition, there is a chance for each of their future children to be affected.
Why choose carrier testing
For example, if both parents are carriers for cystic fibrosis, a condition that primarily affects the lungs and digestive system, there is a chance each parent will each pass down their non-working gene and have a child affected with the condition.
“We are all carriers for a handful of genetic conditions,” said RaeAnn Coughlin, a certifiedgenetic counselor桑福德健康2022世界杯巴西阵容。“当我第一次在诊所见到夫妇时，他们常常想，‘我的家族史都没有，为什么还要做携带者筛查?进行携带者筛查的决定通常与家族史关系不大。当一个孩子生下来就患有遗传病时，父母经常会环顾四周，然后问:“我们家谁得了遗传病?”或者“这是从哪里来的?”大多数时候，答案是没有人。
“That is because these things happen due to the combination of both parents’ genetic information. Carriers do not typically have symptoms, so more often than not, the parents didn’t know they were carriers. None of us are genetically perfect. While greater than 99% of our genes are the same, we all harbor certain genes that do not function properly,” Coughlin explained.
What you can learn from carrier testing
While most people may be aware of conditions that run in their family such as diabetes or heart disease, carrier screening can provide information about possible health risks that may not be apparent in the family.
“Most conditions we offer screening for are considered ‘recessive’ disorders,” Coughlin said. “This means that they are not usually apparent when mapping out the family history and most parents would not have any idea what they carry without doing testing. These conditions happen when two people get together, and just by chance, happen to carry the same genetic condition.”
Carrier screening often evaluates for over 100 conditions.
对某些人来说，知识就是力量。了解携带者状况可能会影响夫妇的生育计划和决策。对于其他人来说，这类信息可能会让人难以承受或引起焦虑。当谈到携带者筛查时，基因咨询师要做的第一件事就是询问这些条件或对结果的了解对他们来说可能意味着什么。
Timing your screening
For example, is the couple concerned about a certain genetic condition? Or, if the couple were to find out they are carriers for the same condition, would their family planning or pregnancy management change?
“Carrier screening is a personal choice,” Coughlin said. “While no test can guarantee a healthy child, carrier screening can aid couples in making decisions for their family. It is recommended that all couples are offered carrier screening prior to conception or during pregnancy so they can make informed decisions that best suit their family goals.”
Coughlin said carrier screening can be completed in multiple stages. A couple can have carrier screening completed at the same time and receive their results together. Alternatively, one person can be screened first. They can then review the results, decide whether the information is helpful or concerning, and decide whether the other partner should be screened.
“Although being a carrier of one or more conditions is common, it is uncommon for both individuals to carry the same condition,” Coughlin said. “Most couples are provided with reassuring news that there is a low chance for the conditions screened.
对于有兴趣了解更多关于筛查的个人，他们可以询问他们的提供者，是否可以与桑福德的遗传咨询师交谈。我们可以帮助您决定什么样的检测选择对您的家庭是最好的，并将帮助理解结果。”
Learn more
- Genetic testing reveals hereditary heart disease
- Cell-free DNA testing for Down syndrome explained
- Raising a child who has cystic fibrosis
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Posted InChildren's,Genetics,Health Information,Pregnancy,Women's
