What kind of down syndromes are there

Most of these services focus on helping children with Down syndrome develop to their full potential. These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes.

The views of these organizations are their own and do not reflect the official position of CDC. Skip directly to site content Skip directly to page options Skip directly to A-Z link. Birth Defects. Section Navigation. Facebook Twitter LinkedIn Syndicate. Facts about Down Syndrome. This is the most common kind. About 95 in people with Down syndrome 95 percent have trisomy Translocation Down syndrome.

About 3 in people with Down syndrome 3 percent have translocation Down syndrome. Translocation Down syndrome can be inherited passed from parent to child through genes. Mosaic Down syndrome. About 2 in people with Down syndrome 2 percent have mosaic Down syndrome. People with this condition have some cells with three copies of chromosome 21, but other cells have the usual two copies.

People with mosaic Down syndrome may have fewer characteristics of Down syndrome because they have some cells with the two copies of chromosome Can you find out during pregnancy if your baby has Down syndrome?

There are two kinds of prenatal tests to check for Down syndrome: Screening tests. A screening test for Down syndrome checks to see if your baby is more likely than other babies to have Down syndrome.

Diagnostic tests. If a screening test shows your baby is at high risk of Down syndrome, your provider may recommend a diagnostic test to confirm the results.

What screening tests are used for Down syndrome? Screening tests for Down syndrome include: First trimester screening. It has two parts: Blood test.

This measures the levels of two proteins in your blood: plasma protein-A also called PAPP-A and a pregnancy hormone called human chorionic gonadotropin also called HCG. If these levels are too high or too low, your baby may be at higher risk for Down syndrome. Nuchal translucency test. An ultrasound uses sound waves and a computer screen to show a picture of your baby inside the womb. Extra fluid may mean a higher risk for Down syndrome Second trimester screening. You get a maternal blood test also called quad screen to measure up to four substances in your blood that may show a higher risk for Down syndrome: alpha-fetoprotein AFP , estriol, HCG and inhibin A.

A test measuring three of these proteins is called a triple screen, and a test measuring four of these proteins is called a quad screen. The test is usually done at 15 to 22 weeks of pregnancy. Integrated screening test. Your provider combines the results from the first trimester screening and the second trimester screening to better estimate the chances that your baby may have Down syndrome.

You can have this test as early as 10 weeks of pregnancy. Talk to your provider about whether this test is right for you. What diagnostic tests are used for Down syndrome? This test checks tissue from the placenta to see if your baby has a genetic condition, like Down syndrome.

You can get CVS at 10 to 13 weeks of pregnancy. Amniocentesis also called amnio. This test takes some amniotic fluid from around your baby in the uterus womb to check for birth defects and genetic conditions in your baby.

You can get this test at 15 to 20 weeks of pregnancy. Percutaneous umbilical cord sampling also called PUBS or cordocentesis. You can get this test between 18 and 22 weeks of pregnancy. There are greater risks with PUBS than with amnio or CVS, so you only get this test if other tests are unclear and you want to confirm whether or not your baby has Down syndrome. How are babies with Down syndrome diagnosed after birth?

What are some physical characteristics of a person with Down syndrome? A person with Down syndrome may have distinct physical characteristics, including: Facial features. Most babies with Down syndrome have some of these characteristics: A flattened face, with a flat nose Almond-shaped eyes that slant up A small mouth A tongue that may stick out of the mouth Tiny white spots on the iris colored part of the eye Other physical characteristics. Babies and children with Down syndrome may have some of these characteristics: A short neck Small hands and feet.

They also may have small pinky fingers that sometimes curve towards the thumb. Common health and development problems in people with Down syndrome include: Intellectual and developmental disabilities. These are problems with how the brain works that can cause a person to have trouble or delays in physical development, learning, communicating, taking care of himself or getting along with others. Babies with Down syndrome may reach developmental milestones later than other babies.

However, an additional full or partial copy of chromosome 21 attaches to another chromosome, usually chromosome The presence of the extra full or partial chromosome 21 causes the characteristics of Down syndrome. Mosaicism Mosaicism or mosaic Down syndrome exists when there are a mixture of two types of cells, some containing the usual 46 chromosomes and some containing Down syndrome: Overview of prenatal screening.

National Library of Medicine. Down syndrome. Genetics Home Reference. Facts about Down syndrome. Centers for Disease Control and Prevention. Frequently asked questions. Prenatal genetic diagnostic tests. American College of Obstetricians and Gynecologists. Ostermaier KK. Down syndrome: Management. Down syndrome: Clinical features and diagnosis. Accessed Jan. Gabbe SG, et al. Genetic screening and prenatal genetic diagnosis. In: Obstetrics: Normal and Problem Pregnancies. Philadelphia, Pa.

Rink BD, et al. Screening for fetal aneuploidy. Seminars in Perinatology.