How to Diagnose Down Syndrome

Affecting approximately one in 700 children, Down syndrome is a genetic disorder than causes physical and mental developmental disabilities in children. It is crucial to diagnose Down syndrome early in order to offer your child the best chance to enjoy a relatively normal life. Read on to learn how to diagnose Down syndrome.

Instructions

Difficulty: Moderately Challenging

Recognize the Symptoms of Down Syndrome

1. Understand that distinct facial features usually form in children with Down syndrome. The most common include a smaller than normal head, a flat face, deformed ears and eyes that slant towards the forehead.
2. Be aware that children with Down syndrome often have poor muscle tone, leading to difficulties in rolling over, crawling and walking.
3. Know that all children with Down syndrome suffer some degree of cognitive impairment, ranging from mild to severe. These will show through developmental difficulties in the afflicted child. Have your doctor diagnose the cause of any such symptoms.
4. Learn more at the National Down Syndrome Society (NDSS) website. See the Resources section below for a link.

Diagnose Down Syndrome

5. Request a pre-natal screening to see if your unborn child has, or is at increased risk for developing, Down syndrome. While the mother's age was long considered a factor when deciding to screen for Down syndrome, many doctors today will offer a pre-natal screening without regard to the mother's age. A doctor can diagnose the condition before your child is born, giving you extra time to prepare a treatment strategy.
6. Know that pre-natal screenings can be conducted via an ultrasound or through a blood test. They typically take place between the eleventh and sixteenth week of pregnancy.
7. Bear in mind that further pre-natal tests may be ordered if your unborn baby is found to be at increased risk for Down syndrome. These tests may include sampling the amniotic fluid in the womb or the placenta, or a genetic analysis of blood taken from the umbilical cord. A 98 to 99 percent accuracy rate has been achieved using these tests.
8. Understand that a doctor may try to diagnose Down syndrome based on the appearance of the child at birth or during its infancy. The facial and bodily characteristics of an afflicted child are usually the first sign of Down syndrome. The doctor will order a "chromosomal karyotype" test, which screens for the chromosome that causes Down syndrome.

Tips & Warnings

• Heart defects and serious cardiac conditions often result from Down syndrome. It is essential that the condition be detected, treated and closely monitored as quickly as possible to mitigate the risk of serious heart problems developing.