Children born with down syndrome have an extra copy of 21st chromosome – Trisomy 21. These children tend to have physical and developmental disability. These disabilities can be life-long. However, children with down syndrome tend to live a happy, healthy and full-filling lives.
What causes down syndrome?
At time of conception, a baby inherits genetic information from parents. A normal child has a genetic make-up of total 46 chromosomes and 23 pairs. When chromosomes don’t separate properly the baby ends up having 3 copies of chromosome 21 instead of two. The total genetic makeup then becomes 47 instead of 46 and this extra pair leads to down syndrome which causes physical and mental delays.
we don’t know what exactly causes down syndrome but we do know that the risk of baby having a down syndrome increases with increased maternal age. This basically means, at age 30 woman have 1 in 1000 chance of conceiving a child with down syndrome. These odds increase to 1 in 400 by the age 35 and it goes to 1 in 100 by age 40. However, most pregnancies’ in 30s do end up with healthy and normal baby. Also, down syndrome can be detected before birth a child is born too and your physician can help you further as well. A study conducted in 2003 also showed increased paternal age (Fathers over 40) also have an increase risk of having a baby with down syndrome.
Those who have a family history of a child with down syndrome or those who carry a genetic translocation are at the highest risk of having a baby with down syndrome.
Symptoms of Down Syndrome
Babies born with down syndrome have certain characteristics including;
- Flat facial features
- Short Neck
- upward slant in eyes
- bulging tongue
These kids also develop developmental delays which includes; impulsive behavior, poor judgement, short attention span, slow learning capabilities.
Babies with down syndrome are also at an increased risk of complications like; Congenital heart defects, hearing loss, cataract, poor vision, leukemia, hypothyroidism, obesity, Alzheimer’s etc.
When to screen for down syndrome?
Screening for down syndrome is a part of routine care during pregnancy.