Genetic Disorders Expert Forum
heart defect in Turner's Syndrome
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heart defect in Turner's Syndrome

I am 13 weeks pregnant and my baby has just been diagnosed with Turner's Syndrome.  She had a thickened nuchal fold of 4.6 at 11 weeks.  The fold went down to 1.9 mm at 12.5 weeks.  I am wondering if this is any indicator as to whether she will have a heart defect at birth.  If not, what tests are usually performed?

Also, is it possible to determine the approximate degree of Turner's the baby will have prenatally?  For ex, if there is mosaicism?
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Nuchal translucency (NT) refers to the collection of fluid under the skin behind the baby's neck during first trimester development. The amount of this fluid is typically measured between approximately 11 and 14 weeks of pregnancy. The NT measurement varies with the gestational age of the pregnancy.

An increased NT measurement is associated with an increased risk for chromosome abnormalities, such as Turner syndrome, as well as congenital heart defects. Turner syndrome is also associated with congenital heart defects. A fetal echocardiogram is a specialized ultrasound of the fetal heart performed after 18 weeks gestation to look for heart defects when indicated. A comprehensive ultrasound can also be performed to look for structural birth defects.

We recommend that you meet with a medical geneticist, who can discuss with you the clinical symptoms of Turner syndrome and what to expect based on your test results. A medical geneticist can be found at the American College of Medical Genetics website. We wish you well.
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