What is Down syndrome?

Jul 08, 2025 Source: Cainiu Health

Dr. Zhou Xiaofeng

Introduction

Under normal circumstances, Down syndrome is a congenital genetic disorder caused by chromosomal abnormalities. It is recommended to seek timely medical consultation, identify the cause, and then undergo symptomatic treatment under a doctor's guidance. After becoming pregnant, it is advised to undergo Down syndrome screening between weeks 16 and 20 of pregnancy by collecting the mother's blood to test for human chorionic gonadotropin, alpha-fetoprotein, free estriol, and other indicators.

Generally, Down syndrome is a congenital genetic disorder caused by chromosomal abnormalities. It is recommended to seek medical attention promptly, identify the cause, and undergo symptomatic treatment under a doctor's guidance. The specific analysis is as follows:

Under normal circumstances, humans have 46 chromosomes divided into 23 pairs. However, individuals with Down syndrome have an extra chromosome on the 21st pair, resulting in a total of 47 chromosomes. This additional genetic material affects the individual's development and functioning. Moreover, advanced maternal age, genetic factors, and exposure to teratogenic substances in the environment may increase the risk of developing the condition. Children with Down syndrome typically exhibit delayed growth and development, including delays in physical and sexual maturation. Specific manifestations include delayed motor skill development, late teething, hypotonia, short stature, and relatively short limbs.

After becoming pregnant, it is recommended to undergo Down syndrome screening between weeks 16 and 20 of pregnancy. This screening involves drawing the mother's blood to test for human chorionic gonadotropin, alpha-fetoprotein, and unconjugated estriol levels. Combined with gestational age, maternal weight, and age, these factors help assess the risk of the fetus having Down syndrome.

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What medical tests are required during pregnancy?

Under normal circumstances, prenatal examinations should be carried out progressively according to gestational age. Core tests mainly include routine blood tests, ultrasound examinations, Down syndrome screening, gestational diabetes screening, and fetal heart rate monitoring. During the examination period, it is important to truthfully inform the doctor about your own health status, while maintaining a regular作息 (作息 should be translated as "routine" or "daily schedule") and balanced diet to provide favorable conditions for the healthy development of the fetus.

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What medical examinations are included during pregnancy?

Under normal circumstances, the main medical tests during pregnancy include routine blood tests, ultrasound examinations, Down syndrome screening, glucose tolerance tests, and thyroid function tests. If abnormalities are detected during these tests, it is recommended to follow medical advice promptly for further evaluation or intervention. In addition, routine urine tests, liver and kidney function tests, and fetal heart rate monitoring are also required during pregnancy.

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

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.

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How to rule out fetal cerebral palsy during pregnancy

Under normal circumstances, it is difficult to completely rule out fetal cerebral palsy during prenatal examinations. However, regularly scheduled prenatal checkups during pregnancy, monitoring fetal developmental indicators, screening for high-risk factors, tracking fetal movements, and performing imaging examinations can help reduce the risk to some extent. It is recommended to follow the physician's advice and undergo regular prenatal examinations, including tests such as complete blood count (CBC), urinalysis, Down syndrome screening, and non-invasive DNA testing.

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What to do if the Down syndrome screening indicates a high risk for trisomy 21?

Under normal circumstances, a high-risk result for trisomy 21 in Down syndrome screening may be caused by factors such as advanced maternal age, miscalculation of gestational age, chromosomal abnormalities, exposure to teratogenic substances during pregnancy, or genetic factors. Pregnant women can visit a reputable hospital to choose further diagnostic tests or medical interventions. In daily life, it is important to avoid exposure to harmful substances during pregnancy, maintain a regular作息 (sleep-wake cycle), and follow a balanced diet.

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How is non-invasive Down syndrome screening performed?

Under normal circumstances, Down syndrome screening with non-invasive testing, also known as non-invasive prenatal genetic testing, is a method used to assess the risk of fetal chromosomal abnormalities by analyzing cell-free fetal DNA in the mother's blood. The testing process mainly includes making an appointment in advance, preparation for the test, sample collection, laboratory analysis, and obtaining the results. A detailed explanation is as follows:

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What if I miss the Down syndrome screening?

The appropriate time for non-invasive DNA testing is between 12 to 22 weeks of pregnancy. If the Down syndrome screening was missed and the pregnancy is within this gestational period, this test can be performed to assess the risk of common fetal chromosomal trisomy syndromes by analyzing fetal cell-free DNA. Amniocentesis can be conducted between 16 to 22 weeks of pregnancy if the Down syndrome screening was missed and the gestational age is appropriate.

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What to do if the Down syndrome screening is not passed

The failure of Down syndrome screening may be caused by advanced maternal age, gestational age calculation errors, chromosomal abnormalities, fetal structural malformations, or gestational diabetes. It is usually managed through further examinations, close monitoring, and targeted interventions. If the pregnant woman is over 35 years old, the quality of her oocytes declines, increasing the risk of chromosomal abnormalities, which may lead to a failed Down syndrome screening.

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