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First Trimester
Screening


Frequently Asked Questions About First Trimester Screenings

Why should I consider having a trimester screen?

These tests will tell you what the chances are for your baby having Down syndrome and Trisomy 18.

Down syndrome is the most common chromosome disorder. It is caused by the fetus having an extra chromosome 21. It commonly results in some degree of mental retardation, heart abnormalities, and other birth defects. The chance of having a child with Down syndrome is about 1 in 800 for all women, but it is higher for women who are over 35 years of age.

Trisomy 18 is caused by the fetus having an extra chromosome 18. It results in severe mental retardation and physical abnormalities. The general risk of having this is about 1 in every 1000 pregnancies, but as your age goes up, the risk also goes up. A very high number of babies with Trisomy 18 die before their first birthday.

The decision to have the test done is left up to you.

How is the test done?

The test involves a simple blood test and a special ultrasound. The blood is taken from a vein in your arm or by pricking your finger at 11-13- 6/7 weeks into your pregnancy. The blood test measures 2 different chemicals. The special ultrasound, called NT, measures the amount of fluid behind the fetus’ neck. The NT ultrasound must be done at an office that is qualified to perform this service and must be done along with the blood testing.

The test will find 85%-91% of Down syndrome and about 95% of Trisomy 18. The results will available in about 1 week.

Does an abnormal test always mean that something is wrong?
No. An abnormal result does not always mean that the fetus has a problem, but it means that the fetus has a higher chance. Finding an abnormal NT ultrasound does increase the risk of other defects in the fetus including heart problems, chest abnormalities, and other problems.
What will be done it the test is abnormal?
In some cases, your doctor may suggest a more detailed ultrasound be done in the 2nd trimester to look at how the fetus is developing. Other special tests, a chronic villus sampling (CVS), or amniocentesis may be offered to try to check for the possibility of Down syndrome and other chromosomal problems. A normal CVS or amniocentesis cannot promise a normal baby. If the fetus has an abnormal ultrasound (i.e. an increased NT), more ultrasounds will be recommended later in the pregnancy to check you baby’s development.

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