Birth Defects Testing
Birth Defects Testing
translucency test and the first-trimester blood tests are often done together
in what is called the first-trimester screening.
- Nuchal translucency test. This test uses
ultrasound to measure the thickness of the area at the
back of the baby's neck. An increase in the thickness can be an early sign of
certain birth defects, such as Down syndrome. This test is often done along with blood tests in the
trimester. It is not available everywhere, because a
doctor must have special training to do it.
- First-trimester blood tests. These tests measure
the amounts of two substances in your blood: beta human chorionic gonadotropin (beta-hCG) and pregnancy-associated plasma protein A (PAPP-A).
Beta-hCG is a hormone made by the
placenta. High levels may be related to certain
birth defects. PAPP-A is a protein in the blood. Low levels may be related
to certain birth defects. The doctor looks at the test results—along with your age and other factors—to find out the chance
that your baby may have certain problems.
First-trimester tests also can be done as part of an integrated screening test. This test combines the results of the first trimester tests with those of a second trimester test (the triple or quad screening).
- Chorionic villus sampling (CVS). Doctors
can use this test to look at cells in the placenta. CVS can be done between 10
and 12 weeks of pregnancy. A doctor collects a sample of chorionic villus cells by putting a thin flexible tube (catheter) into your uterus
through your vagina or by putting a needle through your belly into your uterus.
The test can be used to find chromosomal birth defects such as Down syndrome
and family diseases such as sickle cell disease or cystic fibrosis. But it
cannot find neural tube defects.
Sarah Marshall, MD - Family Medicine
Siobhan M. Dolan, MD, MPH - Reproductive Genetics
April 4, 2012
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