Understanding Down Syndrome in Pregnancy: Risks, Testing, and Treatment
What Is Down Syndrome?
Down syndrome, commonly known as trisomy 21, is a genetic disease characterised by the presence of one additional chromosome 21. This disorder causes numerous physical and developmental differences and can be diagnosed during pregnancy via prenatal screening tests.
Screening During Pregnancy:
Several ways of screening for Down syndrome during pregnancy exist, each with its own set of advantages and disadvantages. The first-trimester combined screening is a standard screening procedure that combines a blood test to assess specific proteins and hormones with an ultrasound to measure the thickness of the nuchal translucency, a fluid-filled area at the back of the baby's neck. An elevated nuchal translucency measurement, combined with aberrant levels of specific proteins and hormones, may suggest a higher risk of Down syndrome.
The quad screen is another type of prenatal screening that is commonly conducted during the second trimester. This blood test detects the presence of specific proteins and hormones in the mother's blood and can help determine the risk of Down syndrome and other chromosomal abnormalities. While these screening tests can help predict whether a newborn has Down syndrome, they are not diagnostic and may provide false-positive or false-negative findings.
Specific physical markers can be seen during prenatal ultrasounds in addition to prenatal screening tests, but they are not reliable signs of Down syndrome. These indicators include a missing or tiny nasal bone, increased thickness of the nuchal fold, and specific heart abnormalities. While these signs may raise the possibility of Down syndrome, further testing, such as amniocentesis or chorionic villus sampling (CVS), is usually required to confirm the diagnosis.
Expectant parents may experience a variety of feelings, including anxiety, fear, sadness, and uncertainty when learning that their baby may have Down syndrome. Learning about the condition and what it means for their child's future can be daunting, and many parents go through a mourning process as they accept the news. However, while Down syndrome provides unique obstacles, it also brings many joys and rewards.
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Get A Second OpinionWhat are the Symptoms of Down Syndrome in Infants?
Once a Down syndrome diagnosis has been confirmed, pregnant parents can begin to consider their options and prepare for their child's arrival. This may entail obtaining assistance from medical professionals, genetic counsellors, and other families with Down syndrome. It also provides an opportunity for parents to learn more about the disease, connect with support networks, and plan for their child's specific needs.
While Down syndrome is connected with physical characteristics such as almond-shaped eyes, a flat nasal bridge, and a projecting tongue, it's crucial to remember that each person with Down syndrome is unique and may not have all of these characteristics. Furthermore, the intensity of symptoms can vary considerably amongst individuals, ranging from mild to moderate to severe.
Developmental delays are a frequent feature of Down syndrome, affecting cognitive, motor and verbal development. Children with Down syndrome may take longer to accomplish developmental milestones such as sitting, crawling, walking, and talking, and they may benefit from early intervention services to help them progress. However, with the proper care and intervention, many children with Down syndrome may reach their full potential and live satisfying lives.
In addition to developmental difficulties, people with Down syndrome may have health complications such as congenital heart defects, hearing loss, vision problems, and thyroid diseases. Regular medical check-ups and tests are essential for tracking these health concerns and resolving any issues that occur.
Despite the problems associated with Down syndrome, many families discover that their child provides them with a lot of joy, love, and contentment. Children with Down syndrome are frequently described as affectionate, friendly, and resilient, with a unique ability to touch the hearts of those around them.
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Book an AppointmentFrequently Asked Questions
The mother does not directly experience Down syndrome symptoms during pregnancy; instead, they are diagnosed through prenatal screening tests and diagnostic procedures. However, specific physical markers detected during fetal ultrasounds may elevate the possibility of Down syndrome.
Symptoms may include increased nuchal translucency, missing or slight nasal bones, and heart defects.
Certain physical and developmental traits of babies with Down syndrome may be present at birth, while others may become more noticeable as the kid grows and develops. Several of them include:
- Hypotonia Flat facial profile.
- Protruding tongue.
- Hearing and vision issues may occur with small or large heads.
- Low-set Ears
People with Down syndrome, like those without the disorder, have a diverse set of personalities, behaviours, and skills. However, certain qualities and traits are often connected with Down syndrome. Here are some general observations about how people with Down syndrome might behave:
- Positive qualities include empathy, kindness, resilience, affection, and sociability.
- Curious and playful, with many abilities and an expressive personality.
Recent research indicates that people with Down syndrome now have a substantially longer life expectancy, with many living well into their 50s, 60s, and beyond. Some studies have found life expectancies in the 70s and 80s for people with Down syndrome who do not have serious underlying health problems.
It's important to remember that even though many people with Down syndrome are living longer, they may still have health problems because of their disease.