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Doctor insights on: Genetic Testing And Marfan Syndrome

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Dr. Scott McLean
1,241 doctors shared insights

Genetic Testing (Definition)

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


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Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Could preimplantation genetic diagnosis or genetic engineering get rid of diseases like Marfan syndrome?

Yes: An embryo could be tested for the marfan mutation and only implanted if it did not contain that mutation. The same is true for a large number of other autosomal dominant or recessive diseases. ...Read more

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How does a baby get tested for Marfan syndrome?

How does a baby get tested for Marfan syndrome?

See a geneticist: There are many options for genetic testing for marfan syndrome, but for a baby the best answer comes not from tests but from a careful history, family history, and physical examination. Sifting through the information and making sense of it in light of the new diagnostic guidelines (the 2010 ghent criteria) may show you that testing makes sense - or maybe not. Your clinical geneticist can help. ...Read more

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What can you tell me about the Marfan syndrome?

Marfans syndrome: Inherited disorder of connective tissue but can be sporadic. Usually dx in adolescence. Affects: Skin, bone (teeth, spine), eyes (lens dislocation), nervous and cardiovascular system (aorta, associated with mitral valve prolapse). Features: Tall, thin, long arms & legs, fingers. ...Read more

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What tests are done to diagnose Marfan Syndrome?

Multiple : There is no single test for Marfan's Syndrome. After the clinical suspicion raised, a detailed exam with a focus on heart with EKG and Echo, imaging and genetic history will be needed for the confirmation. ...Read more

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Is it true you can be classed as disabled if you have Marfan syndrome?

Doubtful: That's a great question for a disability lawyer. (you're unlikely to find any on this website). ...Read more

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Does aneuploidy cause Marfan syndrome?

Marfan is caused by : A mutation in the fibrillin gene on the long arm of chromosome 15 , 15q15-q21.3. Autisomal dominant inheritance with widely variable clinical findings. Aneuploidy is having an abnormal # of chromosomes from a genetic accident during cell reduction (meiosis). ...Read more

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Why is my Marfan syndrome child so lazy and always tired?

May be the treatment: The beta-blocker medications used to control a marfan syndrome patient's blood pressure and heart rate can cause fatigue. If such a side effect seems to be happening, the patient's primary care doctor or cardiologist can re-evaluate. ...Read more

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How effective is a vitrectomy for treating Marfan syndrome?

How effective is a vitrectomy for treating Marfan syndrome?

Effective: I have attached a study that looked at the success of vitrectomy surgery in people with Marfan's and it had 45 patients with 53 surgeries and listed successful reattachment 86% of the time http://www.ncbi.nlm.nih.gov/pubmed/12172108 ...Read more

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Could i detect Marfan syndrome before or after birth?

Yes, prenatally: Prenatal diagnosis of Marfan syndrome is possible through DNA testing of fetal tissue obtained by chorionic villi sampling or amniocentesis. ...Read more

Dr. Scott McLean
327 doctors shared insights

Marfan Syndrome (Definition)

Marfan's syndrome is a genetic disorder caused by defects in a protein called fibrillin that, along with collagen, provides most of the structural support of our tissues. Individuals with Marfan's are often tall, lanky, have long arm spans, and are hyperflexible. The most serious complication of Marfan's is caused by defects in the wall of the aorta, the large blood vessel that leaves the heart and supplies the ...Read more


Genetic (Definition)

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