What should I do if the Down syndrome screening result is high risk?
Jul 09, 2025
Source: Cainiu Health
Dr. Zhou Xiaofeng
Introduction
Down syndrome screening with high risk generally requires further diagnostic tests, consultation with a genetic specialist, selecting an appropriate examination method in combination with gestational age, maintaining emotional stability and avoiding excessive anxiety, and determining subsequent measures according to test results. A high-risk result in Down syndrome screening only indicates an increased likelihood of fetal abnormalities, not a definitive diagnosis. A conclusive diagnosis needs to be made through methods such as amniocentesis or non-invasive DNA testing.
Generally, if the Down syndrome screening result indicates a high risk, further diagnostic tests are usually required. It is advisable to consult with a genetic specialist, choose an appropriate examination method according to gestational age, maintain emotional stability and avoid excessive anxiety, and determine subsequent actions based on test results. If concerned, it is recommended to seek medical advice in advance. Detailed explanations are as follows:
1. Undergo further diagnostic testing: A high-risk result from Down syndrome screening only suggests an increased likelihood of fetal abnormalities but does not provide a definitive diagnosis. Confirmatory diagnosis must be made through procedures such as amniocentesis or non-invasive DNA testing. These tests can more accurately determine whether the fetus has chromosomal abnormalities.
2. Consult a genetic specialist: Based on factors such as maternal age and medical history, genetic specialists can analyze the causes of high risk and the necessity of subsequent tests. They can also explain the advantages, disadvantages, and risks of different tests, helping formulate a reasonable testing plan.
3. Choose an appropriate testing method according to gestational age: Different tests have specific gestational age requirements. For example, amniocentesis is suitable between 16-22 weeks of pregnancy, while non-invasive DNA testing is appropriate between 12-22 weeks. Testing should be conducted within the recommended time frame to avoid compromising feasibility due to inappropriate gestational age.
4. Maintain emotional stability and avoid excessive anxiety: A high-risk result does not necessarily mean the fetus has a disease. Excessive anxiety may negatively affect maternal health and fetal development. It is important to remain rational and actively cooperate with follow-up tests to clarify the situation.
5. Determine subsequent actions based on test results: If the fetus is diagnosed with Down syndrome, the decision to continue the pregnancy can be made considering family circumstances and professional medical advice. If test results are normal, regular prenatal check-ups should continue to monitor fetal development.
Timely further testing is necessary after receiving a high-risk Down syndrome screening result. Follow professional medical guidance, avoid delays or hasty decisions, and ensure accurate results and appropriate management.
