What are the first steps after a diagnosis of trisomy X?
What to do after a diagnosis of trisomy X depends on the timing at which this diagnosis is made. It is also important to be sure that the testing was diagnostic and was not a screening test. Pregnant women sometimes pursue a non-invasive prenatal screening blood test known as cell-free fetal DNA testing or non-invasive prenatal testing ("NIPT") which can indicate a high probability of trisomy X in a fetus. It is essential to be aware that an abnormal NIPT does not diagnose the baby with trisomy X, only suggests an increased chance. Trisomy X can only be diagnosed or ruled out with certainty through chromosome analysis. This chromosome analysis can be performed after birth on a sample of blood, or prenatally on placental tissue ("chorionic villus sampling" or "CVS") or on amniotic fluid ("amniocentesis"). If a baby has been found to have trisomy X on CVS or amniocentesis, consultation with a genetic counselor is essential. The genetic counselor can help explain what trisomy X is and help the family plan and make decisions about their pregnancy. To find a local genetic counselor, use the Find a Genetic Counselor search tool on the National Society of Genetic Counselors' website. While there is no prenatal treatment or therapy for babies with trisomy X, early intervention after birth is the best method by which to maximize that child's potential and developmental outcome.
Most often, females with trisomy X are diagnosed during childhood, after they have shown some signs of developmental delays or other concerns. The pediatrician or medical geneticist may order a chromosome analysis such as a karyotype to determine the cause of these delays and ultimately make the diagnosis of trisomy X. When a family learns that their daughter has trisomy X, they may feel confused or overwhelmed. To get up-to-date information about trisomy X, it is essential that they meet with a medical geneticist and/or a genetic counselor. To find a local geneticist, use the Find Genetic Services search tool on the American College of Medical Genetics website. To find a local genetic counselor, use the Find a Genetic Counselor search tool on the National Society of Genetic Counselors' website.
It is important to realize that nothing immediate must be done for someone who has been diagnosed with trisomy X. The condition is not life-threatening and the diagnosis will not significantly change how the child is cared for on a day-to-day basis. Nonetheless, because of the increased incidence of developmental delays and behavioral/psychiatric issues in females with trisomy X, consultation with specialists and close developmental monitoring is recommended. Early and ongoing interventions and therapies such as speech therapy are the best tools by which to help a child with trisomy X achieve her maximum potential.
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Is there a treatment for trisomy X?
As of October 2016, there is no targeted treatment for trisomy X, nor is there a cure. Current treatment methods focus on the specific symptoms that each person with trisomy X has. Most often this includes supportive therapies such as speech therapy, which can be essential to allowing all individuals with trisomy X to meet their maximum developmental potential.
Researchers are still working to understand how an extra copy of the X chromosome causes the features associated with trisomy X. The extra X chromosome will remain in a woman's cells throughout her life. The only way to treat trisomy X right now is to provide early intervention services, educational opportunities, and quality health care. Additionally, future research through clinical trials may identify new therapies or treatments effective for women with trisomy X. If you are interested in learning more about clinical trials on trisomy X, please visit www.clinicaltrials.gov for up-to-date information on what these trials are studying and where they are being conducted.