Trisomy 21 screening high risk for Down syndrome. 1; 139

Patient's question:

Trisomy 21 screening high risk for Down syndrome. 1;139 what to do

Doctor's answer:

Analysis of the condition: Down syndrome screening is a test method that involves drawing a pregnant woman's blood serum to calculate the risk factor for giving birth to a fetus with congenital defects. Down syndrome screening is a probabilistic test: high-risk groups only mean that the fetus is more likely to be a Down syndrome child, and there is also a possibility of Down syndrome in the low-risk group. When the blood test screening value is greater than 1/270, it is considered a high-risk group, and the normal value is around 1/700.
Advice: Your 21-trisomy syndrome risk is high. 1;139 is only used to determine whether you are in a high-risk or low-risk group. This number has only one meaning. Since you are currently in a high-risk group, it is recommended that you undergo an amniocentesis for chromosomal exclusion testing. If the chromosome test confirms that the child is normal, it means that your child will not have trisomy. What you need to do now is to have an amniocentesis to verify this, and there is no need to worry too much.