Why should I take the test?💡 

Down syndrome is a condition in which the baby has an extra copy of the 21st chromosome, becoming trisomy 21. This causes abnormal appearance, dysfunctioning, intellectual disability and other developmental challenges.    

You are offered a screening test to see if the baby is at risk of having genetic mutations that can develop into Down syndrome or other conditions. You will be provided all information and support you need to make the right decision for you and your family.

How is the test done?💉   

There are two types of prenatal tests for Down syndrome.

Screening tests: The test can identify your risk of carrying a baby having Down syndrome but it cannot ensure or pinpoint exactly whether the baby has Down syndrome. 

Diagnostic tests: These are very accurate giving you the definite answer. They are often offered to moms whose babies are at greater chances of having Down syndrome. Since the tests can increase miscarriage risks, they aren't often offered to all moms unless they are necessary. You can choose to carry out only screening tests but not diagnostic tests.

TMI from Baby Billy👩‍⚕️: 

There are 3 types of screening test for Down syndrome: the combined first trimester screening (9-13 weeks), the non-invasive prenatal testing (NIPT) (after 10 weeks), and the second trimester maternal serum screening.

During the first trimester, screening tests that are often carried out are the combined first trimester screening and NIPT.

Combined first trimester screening

Blood test: done between 9 and 12 weeks into the pregnancy. It measures the level of pregnancy-associated plasma protein-A (PAPP-A) and the human chorionic gonadotropin (HCG). Abnormality detected in these two hormones suggest there is a problem with the baby's chromosome.

Nuchal translucency test: measures the thickness of fluid behind the baby's neck. If the baby has chromosome abnormalities, the area on the back of your baby's neck becomes thicker because more fluids collect in this tissue.  

Non-invasive prenatal testing (NIPT)

NIPT is a screening test available from 9-10 weeks gestation. A genetic material from the placenta that can be found in your bloodstream is collected and analyzed by a blood test. This test is usually done in private clinics and suitable for moms who have babies at high risk of Down syndrome. 

Diagnostic tests

Diagnostic tests are the only way of knowing for sure of the diagnosis that your baby actually has Down syndrome. Since they are invasive and increase the risks of miscarriage, they are only offered to moms at greater risk, or moms having genetic mutations or a history of genetic disorders before.

Chorionic villus sampling (CVS): done between 11 and 14 weeks of pregnancy. Guided by ultrasound, a needle is inserted through your abdomen to collect a sample from the placenta. The procedure is considered quite safe and not painful as the risk of miscarriage is less than 1 in 100.

Amniocentesis: done between 15 and 18 weeks of pregnancy. Guided by ultrasound, a needle is inserted through your abdomen to collect a sample of amniotic fluid. The sample is then used to analyze the baby's chromosome. The procedure is also considered safe, carrying low risk of miscarrriage.