Screening for Down Syndrome

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

1. 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.
2. 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- 

1. 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.
2. 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. 

Both these tests are not painful and last for about twenty minutes. The results may be obtained after a few days.

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.

Significance of Family Activities For Parkinson's

One of a disease that comes into life uncalled for is Parkinson's disease (PD). A person who might have been the star in a party, or someone who was known for their touches of humour sense - Parkinson's changes it all. It comes along with tremors and stiff expressions. But, it is not a life-threatening disease. It can be managed and improved through exercises and therapies. A social support circle enforces individuals with PD to be strong and optimistic towards life.  

Role of Family in Parkinson's 

Parkinson's is a type of a disease which would affect the individuals both mentally and physically. Even though the progression of the condition takes place slowly, there would be setbacks to certain activities. But, it is not something for which one should lose hope. Parkinson's opens doors to other possibilities where one can rediscover oneself. 

When a person comes to know that they have Parkinson's, the only immediate support they turn to is FAMILY. 

The close-knit group of loved ones who understand the feelings of others and render support during happy and hard times is Family. The unmeasurable support which this group provides, promises a safe and secure emotional quotient for the individuals with PD. 

Spending time with the dear ones can make an individual feel happy and content. So, planning family activities is important. These are some of the activities one can do as a family: 

Go on a Picnic - Slowing down would be very much needed for a person with Parkinson's. Take a moment to smell the flowers around. The family would have to learn to take a slow pace in certain activities. They may need to get used to stiff expressions. Even though people with Parkinson's would want to express many things, it may not be possible for them. A picnic is a great opportunity to understand one another better. And be sure to carry enough of food for the hungry hearts! 

Teamwork in Daily Chores - PD individuals will face difficulty in doing daily tasks such as cleaning, cooking, washing and shopping. Family members can step in and assist in their everyday activities. Going on errands, taking them for medical check-ups, preparing meals and checking whether the medicines are taken on time. But, there should be at least certain things where they are given the freedom to do things by themselves.  

Parkinson's support programs would have an array of activities and exercises for Parkinson's disease. It is a great way to keep the tremors at bay and reduce the progression of Parkinson's. 

Game fun With Family - Playing games brings in enjoyment for those with Parkinson's. Sometimes, games could be challenging. It may require to socialize and make use of the memory. Stick to games which are easy to follow and have simple rules. Jigsaw puzzle, painting and playing musical instruments are some of the fun activities in which families can express their support. 

Once the family starts doing various activities with their loved ones who have Parkinson's - they can find their favourite pastime. It is the most practical way to understand the problems and challenges faced by them while doing these activities with the family. It is important to make individuals with PD feel as normal as possible to reduce anxiety caused by the condition. Indulging in quality time with family would close the doors of anxiety and depression.