Down syndrome is a genetic disorder caused by the presence of an extra copy of chromosome 21. This extra genetic material can cause developmental delays, intellectual disability, and various physical features such as a flat facial profile, upward-slanting eyes, and a small stature.
People with Down syndrome may also have certain health issues, such as heart defects, respiratory problems, and thyroid disorders. With appropriate support and interventions, individuals with Down syndrome can lead fulfilling and productive lives.
Woman’s Age and Risk of Down Syndrome
The risk of having a child with Down syndrome increases with the mother’s age. The likelihood of having a baby with Down syndrome is as follows:
– At age 20: 1 in 2,000
– At age 30: 1 in 1,000
– At age 35: 1 in 400
– At age 40: 1 in 100
– At age 45: 1 in 30
– At age 49: 1 in 10
Diagnosis of Down Syndrome During Pregnancy
This can be done through various screening and diagnostic tests. Here are some common methods:
1. Screening tests:
These tests can help determine the likelihood of the fetus having Down syndrome. They include:
– First-trimester screening: This involves a blood test and an ultrasound to measure the thickness of the nuchal translucency (fluid at the back of the baby’s neck).
– Second-trimester screening: This includes a blood test to measure levels of certain proteins and hormones in the mother’s blood.
2. Diagnostic tests:
If a screening test indicates a higher risk of Down syndrome, further diagnostic tests may be recommended to confirm the diagnosis. These tests include:
– Chorionic villus sampling (CVS): This involves taking a sample of cells from the placenta for genetic testing.
– Amniocentesis involves taking a sample of amniotic fluid for genetic testing.
Challenges faced by Individuals with Down syndrome-
Individuals with Down syndrome can face a range of challenges that may require additional support and resources, which can place a burden on both the family and society as a whole. Some of the challenges that individuals with Down syndrome may face include:
1. Medical expenses:
Individuals with Downsyndrome may require regular medical care, including visits to specialists, therapies, and medications. These expenses can add up over time and place a financial burden on families and healthcare systems.
2. Educational support:
Individuals with Down syndrome may require additional educational support, such as special education services, therapies, and accommodations. This can place a burden on schools and educational systems to provide the necessary resources and support.
3. Employment opportunities:
Individuals with Downsyndrome may face challenges in finding and maintaining employment, which can place a burden on both the individual and their family in terms of financial support and independence.
4. Caregiver responsibilities:
Families of individuals with Down syndrome may take on additional caregiver responsibilities, which can impact their well-being, financial stability, and quality of life.
5. Social stigma and discrimination:
Individuals with Downsyndrome may face social stigma and discrimination, which can impact their mental health and well-being, as well as their opportunities for social inclusion and participation in society.
Overall, the burden of supporting individuals with Downsyndrome falls on both the family and society as a whole. Every pregnant woman should get the screening test done for Down syndrome so that we can prevent the birth of Down babies. for more details contact a gynecologist in Indore.