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None of the screenings can diagnose Down syndrome. It comes up with an overall risk rating of Down syndrome. This approach uses the blood test and ultrasound from the first trimester and the blood test from the second trimester. This is called the “triple screen” or “quad screen.” It also looks for markers in the mother’s blood. This could indicate an abnormality, including Down syndrome. The ultrasound looks at “nuchal translucency.” It detects fluid at the back of the fetus’s neck. The blood test looks for markers of abnormalities that could indicate Down syndrome.

A blood test and ultrasound during the first trimester.

Screening for Down syndrome is a normal part of prenatal care. If you are a carrier, you risk passing it on to your child. Both men and women can carry the translocation abnormality.

Being a carrier of a chromosomal abnormality.

If you have a baby with Down syndrome, you have a 1 in 100 chance of having another one.

Already having a child with Down syndrome.

At age 35, your risk of having a baby with Down syndrome is about 1 in 350.

Older eggs are more likely to divide abnormally. The older the woman is, the older her eggs are. There are factors that increase your risk of having a child with Down syndrome: This can happen even if the parent shows no symptoms of Down syndrome. It is the only form of Down syndrome that can be passed down from parent to child. Translocation (or shift) occurs before or at conception when part of chromosome 21 attaches onto another chromosome. Only 1% of Down syndrome cases are Mosaic. Some cells have an extra copy of chromosome 21 because of abnormal cell division in the embryo. Up to 95% of people with Down syndrome have Trisomy 21. This gives the child three copies of chromosome 21 instead of the normal two copies. In this form, the cell division issue happens during the development of the sperm or the egg. The extra genetic material causes the features and problems of Down syndrome. While these kinds of problems are common, they are rarely severe.ĭown syndrome is caused by a problem during cell division. In addition to physical signs, people with Down syndrome often have problems with thinking and learning. Physical issues in areas such as the heart, brain, and GI tract can cause health problems. They do reach these milestones, but it takes them longer. This includes when they learn to roll over, sit, stand, and walk. Common physical signs include:īecause of some of these physical features, children with Down syndrome often develop at a slower rate. Many people with Down syndrome share a distinct appearance. Some have different problems at different points in their lives. Some people have different symptoms than others. There are many signs and symptoms of Down syndrome.