Doctor insights on:
Malformation Genetic Testing Other
Perhaps: If you have other birth defects (chiari can be secondary to spina bifida or be a part of syndromes), then chromosome testing may be indicated. Many chiari malformations occur alone, in which case genetic testing is not necessary. As genome sequencing becomes more rapid and available, genes conferring susceptibility to chiari and other isolated birth defects may become available for testing. ...Read moreSee 1 more doctor answer
Prenatal testing for genetic problems may be done before or after conception. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Besides the couples listed above, counseling and diagnosis are also recommended for mothers over the age of 35, and those who have received abnormal screening test results, such as alpha-fetoprotein (AFP). For more information about the alpha-fetoprotein test, and when and why you might have it, see alpha-fetoprotein. For those who may be at risk, genetic counseling and prenatal diagnosis are used to help ...Read more
Genetic counselor: You should talk with a genetic counselor regarding the specific disease(s) you are worried about. The pros include being able to plan for long-term, reproductive issues, and maybe getting into a clinical trial. The cons include depression or worse with a positive test, not knowing when the disease will strike, and possibly affecting your ability to be insured (even it shouldn't). ...Read more
Many: What do you do with the results? Do you abort a child because they have a genetic disorder that will decrease survival -- but not kill them? If you know someone has a genetic disease, do you allow them to get married? Have children? Do you offer treatments (organ transplant) to someone you know will have. ...Read more
Be specific: If a close relative has a known genetic disease, you have a duty yourself to know whether you carry it. If you are from a population with a lot of sickle cell disease, you owe it to yourself and the person with whom you plan to have children to know whether you have the trait. That's all you'll want. Good luck. ...Read more
Can you tell me about genetic testing what company would work since I'm not looking for relatives.?
Unsure: I've heard mixed reviews on tests like AncestryDNA. Not really something a physician would recommend. I'd research it first. ...Read more
From a medical standpoint, "genetic" refers to the potential heritability of various medical conditions. While some conditions are inevitable (at some point in one's life) as a consequence of simple genetic heritability (eg huntington's disease), a large number of medical conditions (including all behaviorial health disorders) are the expressed final pathway of a ...Read more
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