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Developmental Disabilities

How to Diagnose Down Syndrome

By July 8, 2021November 16th, 2023No Comments4 min read

How to diagnose Down syndrome is becoming a subject of discussion. Fortunately, technology has enabled us to get a diagnosis for this condition even before a baby is born.

Did you know that an estimated 90% of parents who receive a prenatal diagnosis of Down syndrome will choose to terminate their pregnancies? This is truly broke my heart. I cannot trade the moments that I spent with my sister for anything. She was special. She is irreplaceable. I thank God that that was not an option that my parents would have considered.

At the time when my mom was expectant, no one in our family knew that you can run tests on an unborn baby or fluids associated with the fetus. Screening and diagnostic tests identify the likelihood of the baby having Down syndrome

Screening Tests

These kinds of tests do not provide a conclusive answer. However, they provide an indication of likelihood. The goal of this test is to estimate the risk of the baby having Down syndrome. An abnormal test result does not necessarily mean that the baby has Down syndrome. If the screening test comes back positive, then you need to take the diagnostic test. It will help you to identify the condition before the baby is born. It is important that screening is done within the first trimester that is, the first three months of pregnancy. Screening tests are easy and quick to conduct but have greater chances of being wrong. They can indicate positively when the baby is not at risk and negatively when the baby is at risk of being born with Down syndrome.

Types of Screening tests

Ultrasound detects fluid at the back of a fetus’s neck which can indicate Down syndrome. All developing babies have some fluid at their back called Nuchal translucencyHowever, a fetus with Down syndrome will have an increased and thick amount.

Blood test; here the results of the ultrasound are combined with blood tests.  In the first trimester, the maternal blood is tested for two normal proteins that should be present during this trimester. The ultrasound will be used to look at the region behind the baby’s neck, also referred to as the nuchal translucency. This test is conducted between the 11th and 14th weeks of pregnancy.

Quad marker screen- At 15-20 weeks maternal blood is tested for four substances that come from a baby’s blood, brain, spinal fluid, and amniotic fluid.

Triple screen- During the 16th and 18th week of pregnancy, blood tests are performed to determine the levels of some substances produced by the fetus and placenta. The mother’s age, weight, and ethnicity are taken into consideration.

Diagnostic Tests

These tests tend to be more expensive and have a degree of risk of miscarriage. Due to the risks, your obstetrician will want you to have a screening test first.  They include:

Chorionic villus sampling (CVS)- Done to determine any chromosomal or genetic disorders in the fetus. Small tissues from the placenta are taken and tests are conducted. Also

Amniocentesis. the fetus is surrounded by amniotic fluid containing live fetal cells and other substances. These substances are used to provide all information about your baby’s health. See 

Percutaneous umbilical blood sampling (PUBS); in this test, the baby’s blood is removed from the umbilical cord for testing.

Why should you test or not?

Why would you want to test if your baby has Down syndrome rather than wait for when the child is born? I’ll cite a few reasons but the ultimate choice belongs to the parents of the unborn child.

  • First, it helps in planning for a child with Down syndrome. My sister had a lot of issues that required one to seek advice before undertaking treatment. There was need to visit a physiotherapist every Saturday because her feet were bent. If she’d grown up to say five years, we’d have needed a special teacher, a speech therapist among others. These will come as a shocker if you were not psychologically prepared.
  • Secondly, it helps in addressing anticipated lifestyle changes. Identify support groups and resources. I know of Down Syndrome Society of Kenya. They have meeting where parents meet and narrate their journey to one another, advise each other on how to handle various situations and such.

Some parents will also opt not to test because;

  • They are comfortable no matter the outcome
  • Moral, personal and religious reasons also influences the parents’ decision
  • The fear of harming the developing baby
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