Down Syndrome screening 101

Down Syndrome screening: when to do it

After a woman learns that she is pregnant, she needs to go to the hospital regularly for an obstetric checkup, not only to understand the physical condition of the expectant mother, but also to know the development of the fetus in time. 

At 12 weeks of pregnancy, you need to check your weight, blood pressure, fetal heart rate, uterine size, blood test and urine test, and understand the past medical history. After about 13 to 16 weeks, entering the second trimester of pregnancy, screening for Down syndrome is required.

If it is found in time, it may be corrected by early intervention, and the child will be the same as the normal person after birth.

What is Down’s Syndrome

Down Syndrome is a genetic condition due to an extra chromosome of number 21 in the cells of the child. Three copies of the chromosome 21 (normally only 2 copies) are present in each cell. The condition is also known as Trisomy 21. The affected child is born with characteristic physical features and may have several associated medical problems.

Down’s screening is to check the blood of the pregnant woman, combined with the age, gestational age, weight, past medical history and some living habits of the pregnant woman, to screen out the pregnant women with a higher risk of congenital problems, and then make the next diagnosis If the fetus is diagnosed with Down syndrome, let the pregnant woman decide whether to continue pregnancy.

What are Down’s screening items

Down’s screening mainly examines the serum markers of pregnant women, including the concentration of fetal A protein (AFP), human chorionic gonadotropin (β-hCG), free estriol (uE3) and inhibin A. Combined with the data of the pregnant woman’s age, weight, and number of weeks of pregnancy, the risk index of Down syndrome in the fetus pregnant by the pregnant woman is obtained from the computer risk assessment.

If the test result indicates that the probability is greater than the normal reference value, the result is positive, and further amniocentesis or villi examination is required to confirm the diagnosis.

Prevention of Down’s Syndrome

  1. Genetic counseling : The recurrent risk of having another child with Down Syndrome depends on the type of chromosomal defect in the child and the age of the parents.
  2. General recurrence risk is 1% for most cases.
  3. Family planning.

Support groups of Down’s Syndrome in Malaysia

There are many support groups available in Malaysia and they are easily accessible through the internet.

  1. Kiwanis Down Syndrome Foundation
    Alamat : KDSF-National Centre
    Lot 13490 Jalan Jenjarum, off Jalan SS23/1,
    Taman SEA 47400 Petaling Jaya
    Tel: 03-78030179
    Fax: 03-78064862
    Website :
    E-mail :


  1. Azzimawati, R. (2017, June 01). Down Syndrome. Retrieved January 11, 2021, from

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