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What does the Integrated Test involve?
The Intergrated test is performed in two stages. The first stage is ideally performed at 12 weeks of pregnancy, but any time between 10 and 13 weeks of pregnancy is acceptable. The second stage is ideally performed at 15 or 16 weeks of pregnancy but no later than 22 weeks.
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The first stage involves:
An Ultrasound scan examination to precisely determine the gestational age of the pregnancy and to measure the nuchal translucency (NT) thickness, a space at the back of the baby’s neck.
Taking a sample of your blood to measure the concentration of pregnancy associated plasma protein-A (PAPP-A). Providing you with a requisition and a recommended date for the second stage of the test.
The second stage involves:
Taking a second sample of your blood to measure the concentration of the following four markers:
- alpha-fetoprotein (AFP)
- unconjugated estriol (uE3)
- inhibin-A (inhibin)
- chorionic gonadotropin (hCG)
Integrating the measurements from the first and second stages into a single screening result. The NT measurement and the levels of the five markers in your blood are used, together with your age, to estimate your risk of having a Down syndrome pregnancy.
In pregnancies with Down syndrome, PAPP-A, AFP and uE3 levels tend to be low and nuchal translucency measurement, inhibin, hCG levels tend to
be raised.
The level of AFP in the second blood sample is also used to determine if there is an increased risk of spina bifida or anencephaly.
What is Down syndrome?
Down syndrome is caused by the presence of an extra chromosome number 21 in the cells of the developing baby. In an unscreened population about 1 in every 700 (1.4 per 1000) babies is born with Down syndrome. Usually it is not inherited and so a baby can be affected even if there is no history of Down syndrome in the family.
Down syndrome is the most common cause of severe mental disability and is often associated with physical problems such as heart defects or difficulty with sight and hearing. It is not possible to assess the degree of handicap before the baby is born. About 9 out of 10 babies with Down syndrome will survive their first year and nearly half of these will reach 60 years of age.
What are open neural tube defects?
The two main kinds of neural tube defects (NTDs) are spina bifida and anencephaly.
Babies with spina bifida have an opening in the bones of the spine that can result in damage to the nerves controlling the lower part of the body. This causes weakness and paralysis of the legs, and sometimes bowel and bladder problems. Babies with problems are also more likely to have a collection of fluid on the brain, called hydrocephalus, which can be treated surgically but may lead to mental disability.
Babies with anencephaly have a large part of the skull missing and the brain is not properly formed. They always die before or very soon after they are born. In about 1 in every 5 babies with spina bifida the spinal opening is covered with skin or thick tissue. This is called closed spina bidfida and will not be detected by the blood test. This condition is usually less severe than open spina bifida.
What is Edwards’ syndrome?
Edwards’ syndrome (trisomy 18) is a rare and usually fatal abnormality that is caused by the presence of an extra chromosome number 18 in the cells of the developing baby. In the absence of screening about 1 in every 7000 babies are born with Edwards’ syndrome. The risk of Edwards’ syndrome can be estimated using AFP, uE3 and the hCG. If your risk is 1 in 100 or higher you are offered another ultrasound examination and amnocentesis. This is organized by your doctor or consultant. The Integrated test detects 6 out of 10 pregnancies affected with Edwards’ syndrome.
What is a risk?
A risk is the chance of an event occurring. For example, a risk of Down syndrome of 1 in 100 means that if 100 women have this test result, we would expect that 1 of these women would have a baby with Down syndrome and that 99 would not. This is the same as a 1% chance that the baby has Down syndrome and a 99% chance that the baby does not.