children s health issues
Down Syndrome (Trisomy 21)
Diagnosis of Down Syndrome
Before birth, ultrasonography of the fetus or blood tests of the mother Before birth, chorionic villus sampling, amniocentesis, or both After birth, the appearance of the infant and blood tests of the infant (See also Next-generation sequencing technologies .) Down syndrome may be suspected based on findings detected during an Ultrasonography or based on abnormal levels of certain proteins and hormones in the mother’s blood in the first 15 to 16 weeks of pregnancy. Doctors also can do a test to find deoxyribonucleic acid (DNA) from the fetus in the mother's blood and use this DNA to determine an increased risk of Down syndrome. This test is called noninvasive prenatal screening (NIPS) or cell-free fetal DNA analysis. If doctors suspect Down syndrome based on the results of these screening tests, they often confirm the diagnosis using Chorionic Villus Sampling , Screening and diagnostic testing for Down syndrome before 20 weeks of pregnancy is recommended for all women regardless of age. After birth,an infant with Down syndrome typically has a physical appearance that suggests the diagnosis. A doctor usually confirms the diagnosis by testing the infant’s blood. After the diagnosis is made, doctors do other tests to screen for abnormalities associated with Down syndrome. Treating such abnormalities can often prevent them from impairing health. These tests are done at certain intervals and include the following: Ultrasonography of the heart Blood tests Thyroid tests Vision tests Hearing tests Height, weight, and head circumference measurements plotted at each well-child visit using a growth chart created specifically for children with Down syndrome Evaluation for Sleep Apnea None Children who have neck or nerve pain, weakness, or other neurologic symptoms should have x-rays of the bony joints of the neck to check for instability. Children and adults who want to participate in the Special Olympics or other sporting events also may need to have x-rays of the bony joints of the neck. Older adolescents and adults with Down syndrome should be screened at certain intervals for the following diseases associated with Down syndrome: Diabetes Underactive thyroid gland (hypothyroidism) Alzheimer disease 