It is recommended that women with FMR1 premutations as well as intermediate mutations and full mutations receive genetic counseling to discuss the availability of the option of preimplantation genetic diagnosis PGD or prenatal testing amniocentesis and chorionic villus sampling CVS during pregnancy. The diagnosis of POI can be devastating to young women who may not have completed, or even started, family planning. It is well established that loss of fertility can lead to emotional distress and women with FMR1 premutations may be at increased risk for depression and anxiety .
It is recommended that women with FMR1 premutations receive a follow-up visit to screen for symptoms of depression and anxiety. The American College of Medical Genetics ACMG has issued a policy statement recommending fragile X testing for "women with reproductive or fertility problems associated with elevated FSH levels, especially if there is a family history of premature ovarian failure, fragile X syndrome, or undiagnosed mental retardation" [5,18]. FMR1 and the fragile X syndrome: human genome epidemiology review.
Genet Med, 3 , Sherman, S.
Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet, , Sun, W. Molecular testing for Fragile X Syndrome: lessons learned from , tests performed in a clinical laboratory. Genet Med, 9 , FMR1 and the continuum of primary ovarian insufficiency. Semin Reprod Med, 29 , Genet Med, 15 7 , Fragile X analysis of prenatal samples from to Prenat Diagn, 31 — Expansion of an FMR1 grey-zone allele to a full mutation in two generations. J Mol Diagn,11 — Genet Med, 14 8 , Carrier Screening for Fragile X Syndrome. Committee Opinion No.
J Genet Couns, 17 1 , The fragile-X premutation: A maturing perspective. Am J Hum Genet, 74 5 , Association of FMR1 repeat size with ovarian dysfunction. Hum Reprod, 20 2 , Eur J Hum Genet, 14 , Reproductive health of adolescent girls who carry the FMR1 premutation: expected phenotype based on current knowledge of fragile X-associated primary ovarian insufficiency.
What is Fragile X Syndrome?
Ann N Y Acad Sci, , Primary ovarian insufficiency in the adolescent. Curr Opin Obstet Gynecol, 25 5 , An update: spontaneous premature ovarian failure is not an early menopause. Fertil Steril, 83 — Clinical practice. Primary ovarian insufficiency. N Engl J Med, 6 , Fragile X syndrome: Diagnostic and carrier testing. Genet Med, 7 8 , J Genet Couns, 21 6 : Lurie Children's Hospital of Chicago and a member of the Oncofertility Consortium administrative core team.
She completed her graduate thesis with Dr. Teresa K.
Woodruff researching oncofertility and hereditary breast and ovarian cancer HBOC syndrome. Genetic counseling is recommended and available when someone is shown to be a carrier of fragile X. Prenatal testing can be performed by amniocentesis at 16 to 20 weeks or by chorionic villus sampling CVS at 10 to 13 weeks to determine if a fetus has inherited the fragile X gene. For more information about fragile X syndrome, genetic counseling, or to arrange carrier testing, please contact the Prenatal Diagnostic Center.
UCSF Health medical specialists have reviewed this information. It is for educational purposes only and is not intended to replace the advice of your doctor or other health care provider. We encourage you to discuss any questions or concerns you may have with your provider.
Amniocentesis is a prenatal diagnostic test that can detect significant chromosome problems. Find frequently asked questions regarding Amniocentesis here.source link
Fragile X Syndrome: Causes, Symptoms, and Diagnosis
Screening is offered for eleven genetic disorders which are more common in individuals of Ashkenazi Jewish descent. Learn more and book an appointment here. Cystic fibrosis CF is one of the most common life threatening genetic diseases, affecting approximately 1 out of 3, people. Find more info and FAQs here. Spinal muscular atrophy SMA is a genetic disease that results in progressive muscle weakness and paralysis. Learn more and find FAQs here. A common complaint of hearing aid users is difficulty using cell phones with their hearing aids.
Find strategies to help with this common issue here. Like amniocentesis, chorionic villus sampling CVS can detect significant chromosome problems, such as Down syndrome. The presence of isolated choroid plexus cysts CPCs on a second trimester ultrasound is a common cause of anxiety. Find frequently asked questions about CPCs. Commonly asked questions regarding Prenatal Tests including, types available, positive screenings, diagnostic testing, health insurance coverage, and more.
Prenatal screening tests can identify women at high risk for having a baby with certain types of genetic disorders or birth defects. Learn more here. Patient Education. What is fragile X syndrome? How is fragile X syndrome inherited? Who can be a fragile X carrier? Who is at greater risk to be a fragile X carrier? What are the possible results from a fragile X carrier test? Is prenatal testing available? There are four possible results from a fragile X carrier test: Negative You are not a carrier for the most common alteration in the FMR1 gene and your baby is not at increased risk for fragile X syndrome.
Intermediate Your results fall in the range between negative and premutation. Your baby is not at increased risk for fragile X syndrome. Future generations may be at risk for fragile X syndrome. Premutation You are a carrier for the altered FMR1 gene.
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