Down syndrome is a genetic condition and is the most common genetic cause of mental retardation. Down syndrome can lead to intellectual disabilities, cognitive disabilities, and health problems like heart defects, hearing loss, and thyroid disease.

People with Down syndrome have common physical traits like:

  • A flattened nose bridge and face
  • An upward slant of the eyes
  • Small ears and mouth
  • Developmental delays
  • Muscle tone decrease

Down syndrome occurs as a result of a chromosome disorder. Chromosomes are part of your cells that contain your genes. In each human cell, there are 23 pairs of DNA. An extra copy of chromosome 21 is responsible for these physical traits that characterize this syndrome.

Prenatal Genetic Testing For Risk Assessment

Prenatal genetic testing is a medical test used to identify changes in genes, chromosomes, and proteins before a baby is born. There are two types of tests:

  • Genetic tests
  • Traditional Diagnostic tests

Genetic tests

These tests can help identify if a pregnant woman is at risk of having a baby with Down syndrome. There are three types of DNA tests for Down syndrome.

  1. Combined First trimester screening. You can perform this test between 9-13 weeks.
  2. Noninvasive prenatal testing is a newer and more sensitive form of testing for Down syndrome. The test like a hereditary carrier genetic test can take place after 10 weeks of pregnancy.
  3. Second-trimester maternal serum screening can occur between 14 and 18 weeks into pregnancy.

Traditional Diagnostic tests

These tests are specific. After the DNA test, they help confirm or rule out if a pregnant woman is carrying a baby with Down syndrome. Traditional diagnostic tests are safe but invasive and have a low rate of causing miscarriages. These tests include:

Amniocentesis:-This test uses samples of amniotic fluid removed from the uterus. One can do the test between 15-20 weeks of pregnancy.

Chorionic villus sampling: – The test involves removing chorionic villi from the placenta for testing.

Percutaneous umbilical blood sampling:- The test involves removing a blood sample from the baby’s umbilical cord. It is the most accurate diagnostic test for Down syndrome during pregnancy.

Who needs prenatal genetic tests?

As a doctor, you should recommend prenatal genetic testing for Down syndrome to;

  • All pregnant ladies. They should have a screening test before 20 weeks, irrespective of their age.
  • Women above 35 years of age are the primary risk factor for having a baby with Down syndrome.
  • Women who have had a child with Down syndrome before.
  • Women who are carriers or their partners are carriers of the genetic translocation for Down syndrome. Either men or women can pass down the gene. It is important to note that Down syndrome is not inherited most of the time.

Final thoughts

Visit our website to learn more about Tesis Biosciences’ prenatal genetic testing. Early genetic testing is beneficial to expectant mothers since it allows them to plan before birth. Better still, contact us to speak with a specialist.