Patient's question:
Patient Gender: FemaleDetailed Medical Condition and Purpose of Consultation:
Hello, I am 18+ weeks pregnant and had a screening test for Down syndrome. The results are as follows:
Risk 1/1020
Trisomy 18 1/400
Trisomy 21 1/3500
A/P 1/490
Please let me know if the above risk factors are high or low. What does the Trisomy 18 ratio mean? Is it possible that this fetus has a high risk of Down syndrome and should not be carried to term?
Doctor's answer:
Hello, thank you for your inquiry. Down syndrome is caused by a congenital chromosomal abnormality. In most patients, the error occurs during genetic division, leading to the nucleus containing an extra chromosome; in a small number of cases, it is caused by translocation.Around the 15th to 20th week of pregnancy, a blood chromosome test can determine if the condition is present. This test can be performed in general obstetrics and gynecology hospitals. If diagnosed as high-risk, amniocentesis can be conducted to extract amniotic fluid for a more accurate examination, but it carries certain risks.