Down Syndrome Screening

If you are parents with a child on the way, you’d naturally want to know as much as you can about their health and development. One of the conditions you can test for during the fetal stage is Down syndrome.

What is Down Syndrome?

Down syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of an extra copy of chromosome 21. This additional genetic material affects a person’s physical and cognitive development, leading to a range of characteristics such as distinctive facial features, developmental delays, and health issues. However, it is important to remember that individuals with Down syndrome can lead fulfilling lives when given the right support and opportunities.

The Importance of Down Syndrome Testing

Testing for Down syndrome during pregnancy is a vital step in prenatal care. It provides expecting parents with valuable information about their baby’s health and development.

  • Healthcare planning: Early detection can alert healthcare providers to the need for specialised care, ensuring that any health issues associated with Down syndrome, such as heart defects or gastrointestinal problems, are identified and treated promptly.
  • Psychological preparedness: Having early awareness of the condition also gives parents time to educate themselves about Down syndrome, connect with support networks, and make informed decisions about their pregnancy.
  • Early intervention: Testing during pregnancy also opens the door to early interventions and therapies that can enhance a child’s development and abilities.  This early intervention helps to maximise their potential to lead independent and fulfilling lives

When is Down Syndrome Testing Recommended?

Down syndrome testing is typically offered to all pregnant women, regardless of age. However, it is particularly recommended for women over the age of 35, as the likelihood of having a child with Down syndrome increases with maternal age. 

Testing can occur at various stages of pregnancy, with options for screening in the first and second trimesters. Healthcare providers can offer guidance on the most appropriate time for testing based on individual circumstances.

Types of Down Syndrome Testing

There are two main types of testing for Down syndrome: screening tests and diagnostic tests. Screening tests, such as the combined first trimester screening and the quadruple test in the second trimester, estimate the likelihood of Down syndrome. These tests are non-invasive but do not provide a definitive diagnosis.

Diagnostic tests, such as chorionic villus sampling (CVS) and amniocentesis, involve analysing cells from the placenta or amniotic fluid to make a conclusive diagnosis. While more accurate, these tests carry a small risk of miscarriage.

Emotional Support and Decision-Making

Receiving a diagnosis or high-risk result for Down syndrome can be emotionally challenging. If you’re struggling to cope or understand the implications to your child’s long-term health, It’s essential to seek emotional support from healthcare professionals, counsellors, and support groups. They can provide comfort, information, and guidance as you navigate your options and make decisions about your pregnancy. 

Remember, there is no right or wrong choice; what matters is the decision that is right for you and your family.

Down syndrome test in Singapore

While testing your unborn child for Down syndrome comes with different considerations, it doesn’t have to be difficult or uncomfortable.

At W Gynae, we believe that a safe, supportive environment is important for conducive, personalised women’s healthcare of all ages and conditions. If you’re looking for a clinic to do a Down syndrome test in Singapore, book a consultation with us today.

Frequently Asked Questions

Diagnostic tests like CVS and amniocentesis offer a high degree of accuracy in diagnosing Down syndrome. However, no test can guarantee 100% accuracy due to the complexities of genetic conditions.

Screening tests pose minimal to no risk to the pregnancy. Diagnostic tests carry a small risk of miscarriage, which should be discussed with your healthcare provider.

There is no cure for Down syndrome, but individuals with the condition can lead healthy, fulfilling lives with appropriate support, medical care, and educational opportunities.

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