Patient Comments: Trisomy 18 - Testing

Have you had an AFP or ultrasound that tested positive for trisomy 18? Please share your experience.

A Doctor's View on Trisomy 18 Testing

Read the Comment by Melissa Conrad Stöppler, MD

Trisomy 18 screening involves blood tests like the quad screen or triple test. High-risk women may also undergo a level 2 ultrasound. If results of these tests are concerning, a pregnant woman may undergo definitive tests like amniocentesis with genetic analysis or chorionic villus sampling (CVS). Read the entire Doctor's View

Comment from: makeuadress, 19-24 Male (Caregiver) Published: July 17

I have a son who is 23 years old. In 1990, he was diagnosed with partial trisomy 18.He has a translocation with his first chromosome. He has a VSD, seizures, and failure to thrive syndrome. He requires total care and is unable to walk, talk, or sit without assistance. But he is a very happy child. I allowed him to attend public school, and he graduated from high school in 2012. There is not a lot he can do, but we have always taken care of him. His food has to be finely chopped and sometimes pureed. He weighs 25 pounds and is a little over 3 feet tall. But he is the joy of our life. I didn't know he had the problem until after he was born. Doctors told me he might live three months. But we have done everything in our power to keep him well and to make his life fulfilling.

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Comment from: erika rodriguez, Female (Caregiver) Published: May 09

Last month I lost my baby. He has trisomy 18. The doctor did an ultrasound and discovered it. I still do not understand why this happened to me and my husband.

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