What to do if the Down syndrome screening result is high risk

Aug 18, 2025 Source: Cainiu Health
Dr. Zhou Xiaofeng
Introduction
For a high-risk result from Down syndrome screening, further diagnostic tests are generally required to confirm the diagnosis, including consultation with a specialist to understand the situation and maintaining emotional stability to avoid anxiety. Options such as amniocentesis or non-invasive DNA testing may be chosen. These tests can more accurately determine whether the fetus has chromosomal abnormalities, providing a basis for subsequent decision-making and preventing unnecessary actions based solely on the high-risk screening result.

    A high-risk result from Down syndrome screening generally requires further examinations to confirm the diagnosis, consultation with a specialist to understand the situation, maintaining emotional stability to avoid anxiety, choosing a diagnostic method based on individual circumstances, and following medical advice to develop a subsequent plan. If abnormalities are detected, prompt medical attention is recommended. Detailed analysis is as follows:

    1. Further examinations to confirm diagnosis: Options include amniocentesis or non-invasive DNA testing. These tests can more accurately determine whether the fetus has chromosomal abnormalities, providing a basis for subsequent decisions and preventing blind actions solely based on high-risk screening results.

    2. Consultation with a specialist to understand the situation: Communicate in detail with an obstetrician or genetic counselor to understand the implications of a high-risk screening result, possible causes, and the advantages and disadvantages of different tests. The doctor will analyze the specific circumstances to help understand the current condition and appropriate responses.

    3. Maintaining emotional stability and avoiding anxiety: A high-risk screening result does not necessarily mean the fetus is abnormal. Excessive anxiety may affect both maternal health and fetal development. Adjusting one's mindset through communication with family members and acquiring relevant knowledge can help maintain a rational attitude.

    4. Choosing a diagnostic method based on personal circumstances: Select a testing method according to gestational age, physical condition, and tolerance for risk. Amniocentesis is highly accurate but invasive, while non-invasive DNA testing is relatively safe but has limitations in application; therefore, a balanced decision is necessary.

    5. Following medical advice to develop a follow-up plan: Regardless of the further test results, it is essential to follow the doctor's guidance. If fetal abnormalities are confirmed, risk assessment and appropriate management options should be discussed with the doctor. If results are normal, regular prenatal checkups should still be conducted as required.

    When facing a high-risk Down syndrome screening result, do not make self-diagnoses or delay further testing. Taking timely, scientific measures to clarify the situation, while receiving family support and professional guidance, will better equip you to handle potential issues and ensure maternal and fetal health.

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