It must be clearly understood that the results of screening tests represent risks. Its accuracy is about 80 percent, and increases to 90 percent if maternal blood tests are done as well. If this is increased above the normal range, most babies will still be normal although there is an increased risk of Down Syndrome, heart problem or rare genetic syndrome in some babies. NT is the skin at the back of your baby’s neck (Figure 11.2). First trimester screening (FTS) - This consists of a detailed ultrasound scan of your baby at 11–14 weeks gestation to measure the nuchal translucency (NT).Screening tests are noninvasive hence, there is no risk of miscarriage to the baby. If the screening test shows that there is a high risk of your baby being affected, you will be offered a diagnostic test (see below) to confirm it. Their purpose is to tell you if your foetus belongs to a low or high risk group. Screening tests do not tell you if your baby has Down Syndrome. These tests are grouped into screening and diagnostic tests. There are several other methods available to pick up Down Syndrome. This has led to many hospitals offeringĪmniocentesis to women over a certain age, usually 35 or 37. Until recently, the only factor used to identify women at high risk for Down Syndrome was their age.Īt age 35, for example, the chance of having a baby with Down Syndrome is about one in 250. How Do I Know if My Baby has Down Syndrome? The risk of having a baby with Down Syndrome increases as the mother’s age increases (refer to Table 11.1). Throughout the world, the frequency of Down Syndrome is about one per 700 births. It is important to know that people with Down Syndrome can also have reasonably long and fulfilling lives. This usually occurs due to chance, and is more common in older mothers.Īs a result, the fertilised embryo contains an extra chromosome 21 making it three instead of the usual pair (hence the name trisomy 21). It is caused by a change in chromosomal number (genetic makeup) in the egg before it is fertilised by the sperm (at the time of conception). Down Syndrome is the most common cause of significant mental retardation and learning disability in children.
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