Question

The Down syndrome screening results show a risk value of 1 in 460 for trisomy 21 and 1 in 100,000 for trisomy 18, and there’s an open neural tube defect. The doctor told me to have a prenatal diagnosis, but I don’t know what to do.

Answer

Down syndrome is a chromosomal abnormality disease that can severely affect a child’s intelligence and self-care abilities. In your screening results, the risk value for trisomy 21 is 1 in 460, indicating a critical risk. It is recommended to undergo amniocentesis for a more accurate diagnosis. Although amniocentesis carries some risk, it can effectively confirm the fetus’s health status. For the health of your baby, it is advisable to proceed with the relevant examinations and assessments under the guidance of a professional doctor.