Every year, the 10th of October is celebrated as World Mental Health Day. This day is exclusively marked as an International Day for promoting global mental health education, awareness and advocacy against social stigma. The objective is to raise the consciousness of mental health problems worldwide and the efforts which are mobilized for supporting mental health.
One such healthcare initiative of Mental Health Day is the Screening of Down Syndrome. This is an optional test for all pregnant women irrespective of age. It includes both Screening and Diagnostic tests for determining the likelihood of the unborn baby having Down Syndrome. If the baby has an increased risk of having it, further investigation tests may be done to have a definitive diagnosis.
Screening Test - Usually, this test is offered as part of the routine prenatal care. Screening predominantly only identifies the potential risk of having a baby with Down Syndrome. It also helps the parents-to-be to make decisions about certain diagnostic procedures to be undertaken for confirming this. Screening tests are mostly safe and do not cause miscarriages. The tests that are included in this package are-
- The combined first-trimester test - This two-step procedure involves
- Blood test - Here the levels of Pregnancy Associated Plasma Protein-A (PAPP-A) and a pregnancy hormone Human Chorionic Gonadotropin (HCG) are tested. Abnormal levels of any of these are indicative of problems in the unborn child.
- Nuchal translucency screening test - An ultrasound scan is used to measure a specific portion on the back of the neck in the foetus. In case of abnormalities, there is likely to be an accumulation of tissue fluid thereby making the baby’s neck bigger.
In combination with the mother’s age, the results of these tests forecast the risk of Down Syndrome. Further, diagnostic tests may be done (optionally) to confirm the prognosis.
- Non-Invasive Pre-Natal testing (NIPT) - This is one of the latest and sophisticated forms of screening. A simple blood test is done to analyze the baby’s DNA that has been released into the mother’s bloodstream. The test results make predictions with nearly 99% accuracy and are normally after ten weeks of pregnancy. NIPT tests are usually done at private health centres and maternity hospitals.
- Second-trimester Maternal Serum Screening (MSS) - These tests are conducted between the fourteenth and eighteenth weeks of pregnancy. Pregnant ladies who have missed the combined first trimester tests can undergo this screening. Here again, a blood test is done to check the hormonal levels for detecting Down Syndrome in the unborn child. Additionally, ultrasound scans may also be done to detect neural tube defects (abnormalities in the baby’s spinal cord or brain). A morphology or anomaly scan may also be recommended to examine the baby’s growth and pregnancy progress.
- Diagnostic Tests - These tests are promising routes to determine definitively whether the foetus has Down Syndrome or not. Such tests can result in miscarriages and are hence more recommended only to those women who are prone to increased risk, have a family medical history of genetic conditions or have already delivered children with genetic defects. Confirmation tests include-
- Chorionic Villus Sampling (CVS) - The mother’s placental cells are examined for the presence of extra, abnormal or missing chromosomes. This is an invasive process done by inserting an ultrasound-guided needle into the abdomen and is done between the eleventh and fourteenth weeks of pregnancy.
- Amniocentesis - This is another invasive procedure wherein the mother’s amniotic fluid is tested for chromosomal irregularities. It is conducted between the fifteenth and eighteenth weeks of pregnancy.
If the test results are positive, the parents are offered counselling by qualified healthcare practitioners. They provide guidance and relevant information to help the parents decide whether to continue the pregnancy or not and register the baby for adoption.
All expectant mothers are advised to undergo Down Syndrome Screening if medically required to ensure the mental well-being of their babies.
