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First question:

Why would someone get tested for this disorder?


Girls and women with Turner syndrome may exhibit a variety of signs and symptoms. Turner
syndrome may not be immediately visible in some girls, but it may be noticeable in other
girls early on owing to a range of physical characteristics. Signs and symptoms might be
minor, slowly arising over time, or serious, like heart abnormalities.
 
Turner syndrome may be suspected prenatally based on prenatal cell-free DNA screening a
method to screen for certain chromosomal abnormalities in a developing baby using a blood
sample from the mother or prenatal ultrasound.
 Large fluid collection on the back of the neck or other abnormal fluid collections
(edema)
 Heart abnormalities
 
 Abnormal kidneys
 
Second question: When is it tested for (prenatal, infancy, adult)?
Before a kid is born, Turner syndrome can be identified. If a mri reveals that the
fetus has TS symptoms, such as fluid in the neck or cardiac issues, a prenatal locus
may be ordered. Turner syndrome, a lab test will be done to analyze your child's
chromosomes. The test involves a blood sample. Occasionally, your doctor may also
request a cheek scraping (buccal smear) or skin sample. The chromosome analysis
determines whether or not there is a missing X chromosome or a change in one of
the X chromosomes. Karyotypes are often only examined during specific prenatal
tests such an amniocentesis.Turner syndrome can be identified prenatally, during
infancy, or in the early years of life. Occasionally, in people with moderate Turner
Syndrome symptoms and signs, a diagnosis is postponed until adolescence or early
adulthood.

Third question:
How is it tested for? What tests are used and what does is show or look for?
This test can show an increased likelihood that a fetus has Down syndrome, but it
cannot determine Down syndrome is definitely present. If a screening test shows an
increased likelihood, a diagnostic test can be ordered. Turner syndrome is the same
and it is known as a karyotype. A karyotype is a blood test that produces an image of
your chromosomes. A blood test during the second trimester of pregnancy. As in the
first trimester, a blood test enables a health care provider to check for markers in
the mother's blood. A triple screen looks for levels of three different markers; a
quadruple screen looks for levels of four different markers. A combined test
(sometimes called an integrated test). This approach uses both a blood test and an
ultrasound during the first trimester as well as a second-trimester blood test. Health
care providers then combine all these results to produce one Down syndrome risk
rating.

 www.mayoclinic.org
 www.endocrineweb.com
 www.nichd.nih.gov

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