Rarely, screening tests can give an abnormal result even when there is nothing wrong with the baby. These screening tests can help determine the baby’s risk of Down syndrome. Extra fluid in this region could indicate a genetic problem. During an ultrasound, one of the things the technician looks at is the fluid behind the baby’s neck. Screening tests often include a combination of a blood test, which measures the amount of various substances in the mother’s blood (e.g., MS-AFP, Triple Screen, Quad-screen), and an ultrasound, which creates a picture of the baby. Neither screening nor diagnostic tests can predict the full impact of Down syndrome on a baby no one can predict this. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they can be more risky for the mother and developing baby. Screening tests do not provide an absolute diagnosis, but they are safer for the mother and the developing baby. A screening test can tell a woman and her healthcare provider whether her pregnancy has a lower or higher chance of having Down syndrome. There are two basic types of tests available to detect Down syndrome during pregnancy: screening tests and diagnostic tests. 3-5However, the majority of babies with Down syndrome are born to mothers less than 35 years old, because there are many more births among younger women. Women who are 35 years or older when they become pregnant are more likely to have a pregnancy affected by Down syndrome than women who become pregnant at a younger age. One factor that increases the risk for having a baby with Down syndrome is the mother’s age.Researchers know that Down syndrome is caused by an extra chromosome, but no one knows for sure why Down syndrome occurs or how many different factors play a role. The extra chromosome 21 leads to the physical features and developmental challenges that can occur among people with Down syndrome.However, they may have fewer features of the condition due to the presence of some (or many) cells with a typical number of chromosomes. Children with mosaic Down syndrome may have the same features as other children with Down syndrome. ![]() For children with mosaic Down syndrome, some of their cells have 3 copies of chromosome 21, but other cells have the typical two copies of chromosome 21.
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