Down Syndrome

Down syndrome is one of the most common birth defects. Would you know if your child has this syndrome? Children born with the condition have some degree of health problems (physical characteristics) and feeding problems.

Normally, at the time of conception a baby inherits genetic information from its parents in the form of 46 chromosomes: 23 from the mother and 23 from the father. In most cases of Down syndrome, however, a child gets an extra chromosome - for a total of 47 chromosomes instead of 46. It's this extra genetic material that causes the physical and cognitive delays associated with Down syndrome. Although newborns physical characteristics may lead doctors to suspect Down syndrome, a genetic test called karyotype must be done to confirm diagnosis. A karyotype involves testing a small amount of the baby blood or tissue sample stained to show chromosomes grouped by size, number, and shape - can be performed to verify the diagnosis. The prenatal test that is use to diagnose Down syndrome is chorionic villus sampling (CVS). CVS involves taking a tiny sample of the placenta, also through a needle inserted in the abdomen. The advantage of this test is that it can be performed earlier than amniocentesis, between 8 and 12 weeks. The disadvantage is that it carries a slightly greater risk of miscarriage and other complications.

Children with Down syndrome are at an increased risk for a wide range of medical problems. These potential problems include congenital heart defects, increased susceptibility to infection, respiratory problems, gastrointestinal disorders, and childhood leukemia. Common visual problems include crossed eyes, near- or far-sightedness and cataracts. Most can be improved with glasses, surgery or other treatments. Children with Down syndrome may have hearing loss due to fluid in the middle ear, a nerve defect or both. Babies with Down syndrome should be screened for hearing loss at birth or by 3 months of age. Children with Down syndrome should have regular vision and hearing examinations so any problems can be treated before they hinder development of language and other skills. A child with Down syndrome may have eyes that slant upward and small ears that may fold over a little at the top. His/her mouth may be small, making the tongue appear large. His/her nose may also be small, with a flattened nasal bridge. Some babies with Down syndrome have short necks and small hands