Everything you need to know about Down Syndrome
Down Syndrome is not an uncommon chromosomal abnormality seen in pregnancies, also known as Trisomy 21. Normally a cell in the human body has 46 chromosomes but when Down Syndrome occurs an extra copy of chromosome 21 appears in their cell.
Common symptoms of Down Syndrome
Down Syndrome symptoms displayed by babies include one or more of the below facial and bodily features:
- Flat facial profile
- Small head and ears
- Broad, small hands and feet
- Short stature
- Upward slanting eyes
- Protruding tongue
- A short and wider neck
- Poor muscle tone and loose joints
- A single crease across the palm
- Gap between the first and second toes
- Tiny white spots on the iris of the eye
Apart from the physical features, babies with down syndrome may also have intellectual disability, delayed speech, delayed motor skills, and other developmental delays that will be evident in their thinking, playing, and learning. They may also experience heart problems, gastrointestinal problems, sleep apnea, hearing and vision problems.
How can down syndrome be diagnosed?
Down syndrome can be suspected early during NT pregnancy scans with screening tests. Blood tests check for the presence of protein markers that are linked to a high risk of down syndrome. While an NT scan checks for fluid in the back of the neck which is a sign of down syndrome during pregnancy.
Apart from that, diagnostic tests like Chorionic Villus Sampling (CVS) or Amniocentesis can confirm Down Syndrome. It is done by collecting sample cells from the mother’s womb and analysing chromosome.
Amniocentesis is done by collecting the amniotic fluid that surrounds the fetus in the uterus and is usually done between 16-20 weeks of pregnancy. CVS is performed by collecting a tissue sample from the placenta called chronic villi between 11 to 14 weeks of pregnancy. The cells from the chronic villi will have the same number of chromosomes as the baby, hence it can help detect if the baby has down syndrome.
This will be very helpful for parents to decide on the baby’s future and get the right guidance from doctor regarding the abnormality.
Treatments available for Down Syndrome
Generally this treatment is specific for each individual depending upon their limitations and needs. A child born with down syndrome will need proper care from doctors, therapists, teachers, family, and the community at large.
They will encounter many health problems right after birth, to their childhood, and will need constant support, encouragement, and help throughout their life. They will need to undergo a lot of physical and mental therapies to make their life easier and reach their full potential. You will need to work closely with your doctor to give your baby the right treatment and guidance.
Moving on with a Down Syndrome baby
If your baby has been diagnosed with Down Syndrome, you need to prepare yourself to dedicate your time entirely for they will need your constant support and encouragement. You may go through a range of emotions and mixed feelings unable to decide, but we at Ambady Scan Centre can provide you with the needed counselling and guidance to be prepared for babies with down syndrome.
Counselling helps the parents-to-be to understand the risks involved, and prepare mentally, physically, and emotionally. It also provides support to help the family make necessary adjustments and also understands a possible recurrence. Giving them access to specialized medical care, educational programs, and most importantly opportunities for socialization helps make them a part of the community and make them feel included.
Another important aspect of supporting individuals with Down syndrome is promoting awareness and understanding within society. This includes dispelling myths and stereotypes about the condition and recognizing the unique strengths and abilities of individuals with Down syndrome.
Overall, while Down syndrome can present significant challenges, with the right support and resources, individuals with this condition can lead happy and fulfilling lives. By promoting awareness, understanding, and access to resources, we can help ensure that everyone, regardless of their ability, has the opportunity to reach their fullest potential.
Ambady Scan Centre has invested in the latest available technology in this field ever since its inception in 1996. Ambady Scan Centre provides various ultrasound scans, doppler scans, NT scans, all kinds of pregnancy scans, etc. With more than 25 years of experience and the latest technology, Ambady Scan Centre offers the most reliable and accurate results that guarantee the health of the mother and baby equally.
