Signs Symptoms Screening And Diagnosis Of Down Syndrome

It is typically easy to spot a person who has Down syndrome by their unique physical appearance. Down syndrome is one of the only genetic intelligence related syndromes that can be identified greatly by the physical appearance of the person who has it. There are people with Down syndrome who do not have the common appearance related characteristics but these are typically cases that are extremely mild in nature and are very rare.

Children with Down syndrome have a very distinct facial appearance. Their faces are unusually flattened with deep-set features. The head is too small in comparison to the rest of the body with a protruding thick tongue. The eyes are slanted upward in a way that is not indicative of any ethnic nationality and their ears are smaller than usual and are set lower down on the head than is typically seen in children without Down syndrome.

Infants that are born with Down syndrome are typically normal size while in the womb and are born within the average weight and height range for newborns. However, these infants tend to grow slower than their non-downs counterparts do and will remain smaller throughout their childhood. These children will have poor muscle tone with their joints being too flexible. They have broad, short hands with excessively short fingers and toes. There is commonly a space between the big toe and second toe on their feet.

The American College of Obstetricians and Gynecologists recommends Down syndrome screening for pregnant woman of all ages. Between the 11th and 14th week of pregnancy the screening process begins with an ultrasound to measure a specific region on the back of the baby's neck. When abnormalities are present, this spot on the neck will show more fluid than normal. If the ultrasound results present the possibility of a problem, the physician will do blood tests that check levels of plasma protein A and human Chorionic Gonadotropin in the mother's blood. Abnormal levels of these hormones can further signify a problem with the baby. Researchers have determined that this combination of tests can diagnose 87% of all cases of Down syndrome before the 13th week of pregnancy. If these tests indicate Down syndrome, the physician can perform amniocentesis to analyze the chromosomes of the fetus. This test is typically performed after the 15th week of pregnancy to help decrease the 1 in 200 chance of miscarriage that it carries. Further testing includes Chorionic villus sampling and percutaneous umbilical cord sampling both of which are 99% accurate for determining Down syndrome.

Many women are choosing not to have any of the testing for Down syndrome performed during pregnancy. In this case, once the baby is born the greatest identifying factor of Down syndrome is the appearance of the infant. If the infant is born with any of the identifiers present, the doctor will perform a chromosomal analysis. If there is an extra chromosome 21 present in some or all of the cells then the diagnosis is positive for Down syndrome.

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