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Genetic and Rare Diseases Information Center (GARD)

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Marfan syndrome


Other Names for this Disease

  • Contractural arachnodactyly
  • Marfan syndrome type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

Are there ways for an individual with Marfan syndrome to prevent passing on the condition to his or her offspring?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

How is Marfan syndrome inherited?

Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual.[1]

Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent.[1]

Last updated: 2/25/2011

Are there ways for individuals with Marfan syndrome to prevent passing the condition on to their children?

Although there are no known ways to prevent passing the altered gene for Marfan syndrome onto one's offspring, there are ways to detect if the gene has been passed on. Prenatal diagnosis for pregnancies at increased risk for Marfan syndrome is possible by analysis of DNA extracted from fetal cells obtained by amniocentesis, usually performed at approximately 15 to 18 weeks' gestation, or chorionic villus sampling (CVS) at approximately ten to 12 weeks' gestation. The disease-causing allele of an affected family member must be identified or linkage established in the family before prenatal testing can be performed. Despite the availability, requests for prenatal testing for Marfan syndrome are uncommon. Preimplantation genetic diagnosis (PGD) may also be available for families in which the disease-causing mutation has been identified.[1] Individuals interested in pursuing these options should consult with a genetics professional.
 
Last updated: 9/29/2009

How can I find a genetics professional in my area?

Genetics clinics are a source of information for people and families with a genetic condition. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
  • GeneTests offers a searchable directory of U.S. and international genetics and prenatal diagnosis clinics.
  • The National Society of Genetic Counselors provides a database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty.
  • The University of Kansas Medical Center provides a list of links to genetic centers and clinics, associations, and university genetics departments.
  • The American College of Medical Genetics has a Genetics Clinics Database for individuals who wish to locate a U.S. genetics center.
  • The American Society of Human Genetics is a professional organization of researchers and clinical geneticists. The ASHG maintains a database of its members, some of whom live outside of the United States. Visit the ASHG site if you are interested in obtaining a list of the geneticists in your country, though some may be researchers only and may not offer medical care.
Last updated: 11/19/2014

References
Other Names for this Disease
  • Contractural arachnodactyly
  • Marfan syndrome type 1
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.