Down's Syndrome Screening

Down syndrome occurs due to improper cell division and additional full or partial copies of chromosome 21. This genetic material is responsible for Down syndrome's developmental changes and physical features.

It is the most frequent congenital disease in children and the leading cause of cognitive impairments. It is also a common source of various medical problems, such as cardiac and gastrointestinal disorders.

About Down Syndrome Screening

Prenatal or postnatal testing can detect Down syndrome. The condition may be seen soon after delivery due to the typical characteristics that a newborn with Down's syndrome may have, but these features may be found in babies without Down syndrome. Genetic testing that examines the baby's chromosomal count and appearance can confirm the diagnosis. So, your doctor may order a test to confirm the diagnosis.

Your baby may get a blood test to help screen the baby. Then, the chromosomes in their blood are tested to see if there is an additional copy of chromosome 21.

The remainder of this pamphlet is devoted to prenatal diagnosis of Down's syndrome and Down's syndrome screening.

Risk Factors Associated with Down Syndrome Test

Some parents are at higher risk of giving birth to a child with Down syndrome. Risk elements consist of:

  • Increasing maternal age: The chances that a mother may give birth to a child with this syndrome increases with age because older eggs have a greater risk of improper chromosomal division. A mother's chance of having a child with Down syndrome rises after the age of 35. However, because younger women give birth to more kids, most children with Down syndrome are born to mothers under the age of 35.
  • Genetic translocation: Parents can pass the translocation of Down syndrome to a kid.
  • Elder Child with Down syndrome: Parents with Down syndrome are likely to have a kid with Down syndrome. They may analyze the possibility of having a second child with Down syndrome with the aid of a counsellor. The counsellor may help understand the risks of conceiving a second child with Down syndrome.

How to Prepare for the Down Syndrome Test?

There are no special preparations required for the Down syndrome test. However, discussing the advantages and risks of testing with your doctor would be the best.

What to Expect from the Down Syndrome Test?

  • Blood test: The healthcare provider will collect a blood sample into a test tube once the needle has been placed. The blood test will confirm Down syndrome.
  • Ultrasound: A technician will move an ultrasound machine over your abdomen during the test. The device looks at your unborn child using sound waves. Your doctor will examine your baby's neck to look for fluid in the back, a marker of Down syndrome.

Possible Results of the Down Syndrome Test

A lower-chance result shows the chances of conceiving a baby with Down syndrome is less than 1 in 150. A higher-chance result shows that the infant has Down's, Edward's, or Patau's. It may be greater than 1 in 150 or between 1 in 2 and 1 in 150. The likelihood of a more significant chance result is less than 1 in 20.

When to see a Doctor for Down Syndrome Screening?

A pregnant woman can choose to take a Down syndrome screening test. The following women should consider a genetic consultation to learn more about the test since they are more likely to carry a child who has a chromosomal issue:

  • Previous kid with Down syndrome,
  • Someone who is 35 or older when they give birth,
  • A family history of genetic abnormalities or a parent who has one, or
  • Abnormality is seen on an ultrasound


You may better understand the chances of having a kid with Down syndrome with the advice of a doctor. Additionally, they may discuss the different prenatal tests with you and explain the benefits and risks of testing.

Request an appointment at Apollo Cradle, Amritsar - Abadi Court Road. Call 1860-500-1066 to book an appointment.

1. Does the down syndrome screening include any risks?

There are minimal or no risks involved in down syndrome screening.

2. What happens if a test for Down syndrome is positive?

A positive test means a higher chance of the baby having Down Syndrome.

3. How will I be informed of the screening test's results?

Your doctor should discuss the time to get the test results with you.

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