Patient's question:
A few days ago, I received my Down syndrome screening report, but the doctor said that the risk of trisomy 18 in it was high. My ratio was 1:140, and the threshold for high risk of trisomy 18 is 1:350. He suggested I get genetic counseling and prenatal diagnosis, but I am already 18 weeks pregnant.Doctor's answer:
Analysis of the condition: The elevated screening result for trisomy 18 suggests a higher likelihood of the fetus developing Down syndrome, and an amniocentesis should be performed. At 18 weeks of pregnancy, it is not too late to undergo genetic counseling and amniocentesis.Advice: Currently, amniocentesis is performed under ultrasound guidance, unlike the "blind" method used in the past, which poses no risk to the fetus. The procedure is similar to an intramuscular injection and there is no need to overworry about it.