Down Syndrome Test Works

Understanding How the Down Syndrome Test Works


In recent years, non-invasive prenatal testing has become quite popular among soon-to-be parents. Prenatal tests give them a way to monitor their baby’s development and detect potential abnormalities early on. If you are a soon-to-be parent, first of all, congratulations! Secondly, let’s begin by discussing Down syndrome. We will start by understanding what down syndrome is, followed by how down syndrome screening works.

What is Down syndrome?

Down syndromeis a genetic disorder caused due to the presence of third copy of chromosome 21. This extra genetic material leads to developmental changes and distinct physical features. Individuals with down syndrome may experience lifelong intellectual disabilities and developmental delays. Additionally, children with down syndrome might have cognitive impairment. Moreover, they might also have delayed language development and affected short- and long-term memory.

Here are some common features associated with Down syndrome:

  • Flattened face
  • Small head
  • Short neck
  • Unusually shaped or small ears
  • Poor muscle tone
  • Relatively short fingers and small hands and feet
  • Short height

If you have any worries about your child’s growth and development, consult with a doctor for early diagnosis and intervention.

Understanding Down Syndrome Screening

Normally, soon-to-be parents are offered down syndrome screening between 10 and 14 weeks of pregnancy to assess their chances of having a baby with down syndrome. There are two main types of tests that can be used to detect Down syndrome during pregnancy.

1. Prenatal screening tests

This test includes a blood test to check for specific proteins related to Down syndrome risk. These blood tests are normally conducted during the first and second trimesters of screening. In the first trimester, you might have a blood test, followed by an ultrasound to look for fluid at the back of the baby’s neck. On the other hand, in the second trimester, you might have a blood test to measure markers indicating Down syndrome risk. This can be a triple-screen test (checking three markers) or a quadruple-screen test (checking four markers).

Additionally, your doctor can take a cell-free foetal DNA test to detect excess chromosome 21 material. It can be done as early as ten weeks, but it’s not recommended if the risk of Down syndrome is low or if you’re expecting twins.

2. Prenatal diagnostic tests

Amniocentesis, Chorionic Villus Sampling (CVS), or Percutaneous Umbilical Blood Sampling (PUBS) are some of the prenatal diagnostic tests that soon-to-be parents can take to confirm or rule out Down syndrome. These tests examine chromosomes in cell samples to detect down syndrome chromosomes.

Always remember that it’s important to consult your doctor before opting for a down syndrome screening. Moreover, the screening results will never tell you whether your baby has down syndrome or not. It will tell you if you have a higher or lower chance of having a baby with down syndrome.


Down syndrome screening is an optional USG in pregnancy. Deciding whether to undergo prenatal screening is a personal choice, but it is recommended for the health and well-being of your child.

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