Trisomy x

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Can a woman with trisomy X have children?

Women with trisomy X have normal fertility and can have healthy pregnancies. Because most women with this condition are never diagnosed, there is not good data to determine if the offspring of women with trisomy X are at increased risk for trisomy X, other sex chromosome disorders, or other chromosome disorders such as Down syndrome. If there is an additional risk, however, it appears likely to be small. To better understand the chance to have a baby with a chromosome abnormality as well as what screening or diagnostic testing is available for a pregnant woman with trisomy X, she should seek consultation with a genetic counselor. To find a local genetic counselor, use the Find a Genetic Counselor search tool on the National Society of Genetic Counselors' website.

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Do women with trisomy X have a normal life span?

Can trisomy X be detected on noninvasive prenatal testing?

How do I tell my daughter she has trisomy X?

Do women with trisomy X have a normal life span?

Trisomy X is almost never associated with life-threatening medical complications or major birth defects, and affected girls and women typically experience normal health throughout their lives. For this reason, the life span of women with trisomy X is not shorter than average.

References
Can trisomy X be detected on noninvasive prenatal testing?

There are some noninvasive blood tests that pregnant women can have to help detect trisomy X and other fetal chromosome disorders. These tests have several names including non-invasive prenatal testing ("NIPT") or cell-free fetal DNA (cfDNA). It is very important to remember that NIPT/cfDNA are not diagnostic tests. Therefore, a pregnancy which has been considered high risk or at increased risk for trisomy X by these screens needs confirmatory testing by karyotype before the diagnosis can be made. To better understand the chance to have a baby with trisomy X as well as what screening or diagnostic testing is available for trisomy X, consultation with a genetic counselor is recommended. To find a local genetic counselor, use the Find a Genetic Counselor search tool on the National Society of Genetic Counselors' website.

How do I tell my daughter she has trisomy X?

Deciding how and when to tell your daughter that she has been diagnosed with trisomy X can be difficult. The eXtraordinarY Kids Clinic at Children's Hospital Colorado has developed a brochure to help parents with this task. The brochure can be downloaded for free from their website.

References
  • http://www.genetic.org/Portals/0/Public/Docs/XXX_handout%20v4_Jan%202014.pdf

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