Down’s Syndrome

---Down’s syndrome (mongolism) is the result of one chromosome too many. Sufferers typically grow up mentally retarded and frequently have defects of the heart and lungs. However, they are usually affectionate and cheerful children with a fondness for music and dance. Down’s syndrome may be recognisable at birth. Down’s syndrome babies typically have the following feature:-

Eyes noticeably slanted and close together

Ears small and often misshapen

Nose often pug-shaped leading to snuffly-breathing

Tongue large and often protruding.

Hands broad and stumpy with only a single crease ("simian line") across the palm.

Little fingers are incurved and often only has two bones and a single crease.

Feet broad and short with a longitudinal furrow and a wide gap between the first and second toes.

1.Occurrence of Defects
A. Down’s syndrome. 3.5 out of every 10,000 babies born have this defect. If the mother is over 40, the rate rises to 200 (or 1 in 50 babies)

Anencephaly. 6 in every 10,000 babies are born with this fatal abnormality in which the brain and the top part of the skull are absent. It is more common if the mother is very young or very old.

Spina bifida. This, often together with hydrocephalus, occurs in 10 out of 10,000 live births.

Mental subnormality. Excluding those with Down’s syndrome, 17 out of 10,000 babies are born with some degree of mental defect.

2.Spina bifida

In a fully developed spine, the spinal cord is completely enclosed by a vertebrae. But in spina bifida, one of more vertebrae are open at the back, allowing fluid to pass though and form a bulging sac along the spine.

3.Amniocentesis

This technique involves drawing a sample of the amniotic fluid from the uterus during pregnancy. Amniocentesis allows some fatal abnormalities, such as spina bifida, to be detected before birth.

To Main