At 13 weeks of pregnancy, an ultrasound examination indicates a possible cystic hygroma. To further confirm if the fetus has chromosomal issues, it is recommended to undergo amniocentesis or non-invasive DNA testing.

At 17 weeks pregnant, the Down syndrome screening result is 1:930. The doctor recommends a non-invasive DNA test. Is there any risk involved?

Risk Assessment for Down Syndrome

A 36-year-old pregnant woman at 24 weeks gestation, with a normal non-invasive prenatal genetic testing result at 18 weeks, but a cardiac ultrasound at 22 weeks showing punctate hyperechoic foci in the left and right ventricles. Inquire about the possibility of chromosomal abnormalities and whether amniocentesis is necessary.

The risk rate for Down syndrome in the second trimester is 1 in 88, and it is recommended to consider amniocentesis or non-invasive DNA testing to determine the risk.