Down Syndrome Treatment

Down syndrome is not a condition that can be cured. However, early intervention can help many people with Down syndrome live productive lives well into adulthood.

Children with Down syndrome can often benefit from speech therapy, occupational therapy, and exercises for gross and fine motor skills. They might also be helped by special education and attention at school. Many children can integrate well into regular classes at school.

Prenatal Screening

The incidence of Down syndrome rises with increasing maternal age. It is less than 1 in 1,000 for mothers' age under 30, but increases to 1 in 400 for mothers' age at 35. By age 49, the chance is 1 in 12. Therefore, many specialists recommend that women who become pregnant at age 35 or older undergo prenatal testing for Down syndrome.

There is a relatively simple, noninvasive screening test that examines a drop of the mother's blood to determine if there is an increased likelihood for Down syndrome. This blood test measures the levels of three markers for Down syndrome: serum alpha feto-protein (MSAFP), chorionic gonadotropin (hCG), and unconjugated estriol (uE3). While these measurements are not a definitive test for Down syndrome, a lower MSAFP value, a lower uE3 level, and an elevated hCG level, on average, suggests an increased likelihood of a Down syndrome fetus, and additional diagnostic testing may be desired.

Diagnostic Testing

There are several prenatal diagnostic tests that can be performed to determine the occurrence of Down syndrome. These tests include amniocentesis, chorionic villus sampling (CVS), and percutaneous umbilical blood sampling (PUBS). However, before undergoing any of these diagnostic tests, patients and their families should seek detailed genetic counseling to discuss their family history in relationship to the risks and benefits of performing these diagnostic procedures.

Amniocentesis, the removal and analysis of a small sample of fetal cells from the amniotic fluid, is widely available and involves a lower risk of miscarriage than chorionic villus sampling. However, amniocentesis cannot be done until the 14th to 18th week of pregnancy, and it usually takes additional time to determine whether the cells contain extra material from chromosome 21.

Chorionic villus sampling, conducted at 9 to 11 weeks of pregnancy, involves extracting a tiny amount of chorionic villi, tissue extensions that will eventually develop into a placenta. The tissue can be tested for the presence of extra material from chromosome 21. The villi can be obtained through the pregnant woman's abdomen or cervix. This type of sampling carries a 1-2% risk of miscarriage.

Percutaneous umbilical blood sampling or PUBS, is the most accurate method and can be used to confirm the results of CVS or amniocentesis. However, PUBS cannot be performed until later in the pregnancy, during the 18th to 22nd weeks, and carries the greatest risk of miscarriage.

Reference:

National Institute of Child Health and Human Development, USA.