Down syndrome is one of the most common chromosomal abnormalities with which a baby can be born. Also known as trisomy 21, Down syndrome occurs when the baby has an extra copy of chromosome 21.
Detecting Down syndrome
Humans have 23 pairs of chromosomes, a total of 46 (two copies of each pair). Many health and developmental problems in a baby occur when a chromosome is missing or extra.
When there is an additional copy of a chromosome, that is, three copies instead of two, it is called trisomy. The most frequent trisomies are: Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), and Patau syndrome (trisomy 13). Of these three
disorders, the most common is Down syndrome.
These chromosomal abnormalities are generally associated with intellectual disability and other congenital malformations. The risk of having a baby with Down syndrome increases with the mother's age. Many doctors consider the
risk of significant chromosomal abnormalities to rise after age 35.
Tests to detect Down syndrome
For pregnant women who wish to rule out the presence of chromosomal abnormalities in the baby, there are tests to detect Down syndrome that help estimate the probability that the baby has this condition.
The risk of having a baby with Down syndrome increases with the mother's age.
These tests are recommended for women with a high risk index of chromosomal abnormalities after first trimester screening, women with previous pregnancies affected by Down syndrome, or to detect suspicious anomalies on ultrasound.
Among these tests to detect Down syndrome are the NACE and Expanded NACE tests. These are non-invasive prenatal tests performed on pregnant women who want to rule out chromosomal abnormalities in the baby without risking the pregnancy.
Both tests detect with high precision fetuses with Down syndrome, as well as other abnormalities (those affecting chromosomes 18, 13, X, and Y), and in the case of Expanded NACE also chromosomes 9, 16, and microdeletions.
The results report will indicate whether any of the analyzed chromosomal alterations have been detected. If so, confirmation with an invasive test such as amniocentesis or chorionic villus sampling will be necessary.
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