Can Down Syndrome Symptoms be Spotted Before Birth?

November 12, 2012

Can Down Syndrome Symptoms be Spotted Before Birth?

Down Syndrome is a very common disorder of the genes that affects hundreds of births every year. Can Down Syndrome symptoms be spotted before birth, though?

What Causes Down Syndrome?

In general, Down Syndrome occurs when an extra chromosome, called chromosome 21, appears in the body. Usually, children who are born to older women have higher risks of getting this syndrome and because of this, prenatal screening can now be done to identify whether fetuses are at high risk for it or not. Parents also have the option to look into diagnostic tests and invasive procedures to pinpoint Down Syndrome symptoms if necessary.

What is Maternal Serum Screening?

It would be highly recommended for women to get maternal serum screening while pregnant – especially if they are already 35 years old or above. During this screening, specific patterns will be analyzed in the proteins to determine whether the fetus has any Down Syndrome symptoms. This test can be done in the first or second trimester, though it can be done both times, as well. In a nutshell, the mother will give a blood sample during this test for the laboratory to analyze. A certain risk figure will then be determined, depending on the detected protein levels in the blood. Although a positive screen isn’t a proper diagnosis of Down Syndrome in the fetus yet, it would require more invasive testing for Down Syndrome symptoms.

What is Nuchal Translucency?

Nuchal translucency, on the other hand, is done in the first trimester. Here, an ultrasound technologist will measure how thick the fetus’s neck is. Usually, a bigger measurement means that the fetus is at high risk of developing Down Syndrome. Ideally, the results of this test should be combined with the results of the maternal serum screening for more accuracy since a thick nuchal translucency could also mean that the fetus has another chromosomal disorder, like Turner Syndrome.

What Else Can Ultrasounds Do?

After analyzing the entire fetus, clinicians should be able to detect other Down Syndrome symptoms, as well. However, when look at on their own, these symptoms might not be specific to this syndrome, but might result in abnormal test results anyway. Cardiac malfunction would be one common symptom that can be seen through an ultrasound, whereas duodenal atresia would be another one. This symptom basically looks like two doubles on an ultrasound. Other symptoms that might indicate Down Syndrome would include bright bowel, brain and heart spots; shorter long bones; bigger brain ventricles; and renal abnormalities.


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