Diagnosis of Down Syndrome
Screening tests will reveal whether or not a woman is expecting a child with Down syndrome. However, these tests cannot determine whether or not the infant has Down syndrome.
If your kid has Down syndrome, diagnostic testing will help you figure out if he or she has it.
Tests for maternity screening
Down syndrome testing is done as part of normal prenatal treatment. While screening tests can only determine the chances of having a baby with Down syndrome, they can aid in the decision-making process with more specific diagnostic tests.
The first trimester combined test and the optimised screening test are two types of screening tests.
The combined first trimester exam
The combined first trimester exam, which is performed in two stages, contains the following:
A blood test is required. The levels of PAPP-A (pregnancy-associated plasma protein-A) and HCG (human chorionic gonadotropin) are measured in this blood test (HCG). PAPP-A and HCG levels that are abnormal can suggest a problem with the infant.
Check for nuchal translucency. An ultrasound is used to measure a small region on the back of your baby’s neck during this procedure. A nuchal translucency screening procedure is what this is called. When anomalies are involved, this neck tissue appears to absorb more fluid than average.
Your doctor or genetic counsellor will predict the chance of raising a baby with Down syndrome based on the age and the outcome of the blood test and ultrasound.
Screening test for several components
During the first and second trimesters of pregnancy, the combined screening test is completed in two sections. The findings are combined to determine the likelihood that your baby will be born with Down syndrome.
This is the first trimester. The first part consists of a blood examination to determine PAPP-A levels and an ultrasound to determine nuchal translucency.
This is the second trimester. The quad test detects four pregnancy-related compounds in your blood: alpha fetoprotein, estriol, HCG, and inhibin A.