Triple, Quad, or Integrated Tests for Birth Defects

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KEY POINTS

• The maternal blood triple and quad tests, also called the triple and quad screens, are blood tests that check for the risk of birth defects before a baby is born.
• An abnormal test result does not mean that a baby has a birth defect. In fact, most women with abnormal results have healthy, normal babies.
• If the results of these and follow-up tests show that your baby does have a problem, your healthcare provider will talk to you about your choices for treatment.

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What are the triple, quad, or integrated blood tests?

The maternal blood triple and quad tests, also called the triple and quad screens, are blood tests that check for the risk of birth defects before a baby is born.

• The triple test measures the levels of 3 proteins and hormones in a sample of the mother's blood.
• The quad test measures 4 proteins and hormones in the mother’s blood.

The triple and quad tests are usually done between the 15th and 18th weeks of pregnancy.

The integrated test is done in 2 stages. The first stage is done when you are about 12 weeks pregnant. It includes an ultrasound of the baby to look at the thickness of the skin on the baby’s neck and a test of the mother’s blood called PAPP-A (pregnancy-associated plasma protein A). The second stage is a quad test done at 15 to 16 weeks of pregnancy.

The tests cannot tell for certain that there is a birth defect, but they can give an idea of the risk for certain birth defects. The risk is based on the levels of the proteins and hormones found in the blood. Factors such as the age of the unborn baby; your age, weight, and race; and whether you take insulin to treat diabetes are also considered.

Why is this test done?

This test may be done to check for birth defects such as:

• Down syndrome or other genetic problems
• Brain or spinal cord defects, such as spina bifida (the spine has not closed normally) and anencephaly (all or part of the brain is missing)
• Failure of the baby's abdomen to close, so that the intestines are outside the belly
• A problem with the esophagus (food pipe)
• Kidney problems
• Severe skin problems

How do I prepare for this test?

You usually do not have to do anything to prepare for this test.

How is the test done?

For the blood tests a small amount of blood is taken from your arm with a needle. The blood is collected in tubes and sent to a lab.

For the first stage of the integrated test, an ultrasound sensor is placed on your belly or in your vagina. Your healthcare provider will use the ultrasound pictures to measure the area on the back of the baby’s neck.

Ask your healthcare provider when and how you will get the results of your test.

What does the test result mean?

An abnormal test result does not mean that a baby has a birth defect. In fact, most women with abnormal results have healthy, normal babies. Examples of reasons the results may appear to be abnormal are an incorrect due date or pregnancy with more than 1 baby, like twins.

If the test results are not normal, you may have other follow-up tests, such as:

• Ultrasound exam, which uses sound waves to show pictures of the baby. The pictures help determine the baby's age and correct due date and can show if you are carrying more than 1 baby. They can also show some birth defects.
• Amniocentesis, which is a way to get a sample of fluid in the amniotic fluid surrounding the baby. The fluid is tested in the lab to look for genetic and other problems.
• Umbilical blood sampling, which is a way to get a sample of the baby's blood from the umbilical cord for testing.

Test results are only one part of a larger picture that takes into account your medical history and current health. Sometimes a test needs to be repeated to check the first result. Talk to your healthcare provider about your result and ask questions such as:

• If you need more tests
• What kind of treatment you might need
• When you need to be tested again

If the results of these and follow-up tests show that your baby does have a problem, your healthcare provider will talk to you about your choices for treatment. The information can help you decide how to manage a pregnancy with a baby affected by the problem.