Patient's question:
I am 18 weeks pregnant. Last time I went to the hospital for a thorough check-up, they said I have a high risk of Down syndrome. What is Down syndrome?Doctor's answer:
Down syndrome, also known as 21-trisomy syndrome, refers to a non-euploid chromosomal abnormality where the fetus has one extra copy of chromosome 21 compared to the normal number. It is a relatively common congenital chromosomal abnormality, often characterized by intellectual disability, developmental delay, and an increased risk of malformations.The optimal time for Down syndrome screening is generally between weeks 15 and 20 of pregnancy. If your test results indicate a high risk of Down syndrome, it is important to pay attention and follow the doctor's advice. Further diagnostic tests, such as amniocentesis or non-invasive DNA testing, may be recommended. If the amniocentesis results are normal, there is no need to be overly concerned.