Patient's question:
Medical Description: My wife has a high risk of Down syndrome 1/69, it's for the 21st chromosome! The doctor said there's a possibility that the child might be born with congenital intellectual disability! Now I'm not sure what to do!History of Treatment and Effect: My wife had two Down syndrome tests. The first one was done in our hometown, where the risk was 1/49 for the 21st chromosome. However, the hospital there estimated that my wife was two weeks further along in her pregnancy, so they recommended we get an amniocentesis at the city hospital. Later, we did another test at the city hospital. The doctor said the current gestational age was 15+2, and the result was 1/69!
Help Needed: The first test showed a risk of 1/49 for the 21st chromosome, and the second test showed 1/69. Is it that the risk will be higher if we do another test in the future?
Doctor's answer:
Hello, your test results indicate a high risk for Down syndrome. It is currently best to arrange for an amniocentesis as soon as possible. Do not consider whether or not to do it. A 1/50 risk is greater than 1/5000. Some units propose the concept of a critical risk level to achieve a higher detection rate for Down syndrome screening. The critical range is between 270/1 and 500/1, higher than low-risk individuals but lower than high-risk ones. It is a middle value set for the possibility of missed diagnoses of other chromosomal abnormalities in individuals with intermediate risk. Generally, the critical risk level is not a problem and requires further observation.