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What's down's syndrome ?
Down's syndrome, also known as Trisomy 21, is caused by the presence of an extra (third) copy of the chromosome number 21. It affects around one in every 1,000 babies born. In 2011, just under 724,000 babies were born in England and Wales, and 725 of these were born with Down’s syndrome. There's no such thing as a typical person with Down's syndrome. Like everyone, people with Down's syndrome vary a lot in appearance, personality and ability.
People with Down's syndrome have learning difficulties and some have more serious difficulties than others. It's hard to tell how much a baby with Down's syndrome will be affected as a child or an adult. There is currently no cure but with appropriate care, some people with Down's syndrome can be supported to lead an active and independent life.
Conditions linked with Down’s syndrome include heart problems and reduced hearing and vision. Many of these problems can be treated, and frequent health checks can ensure that any problems are detected as early as possible. People with Down's syndrome can live into their 50s, 60s and 70s.
What tests are there for down's syndrome ?
There are screening tests that can assess your chance of having a baby with Down's syndrome. These are:
Blood test plus nuchal translucency ultrasound scan
Quadruple blood test
There are also diagnostic tests that will give you a definite diagnosis of Down's syndrome and, sometimes, other abnormalities. These are:
Chorionic villus sampling (CVS)
Amniocentesis
Your midwife or doctor will offer you information to help you decide if you want the tests or not.
Amniocentesis :
After counselling, amniocentesis may be offered from the time you are 15 weeks of pregnancy if you have a higher-risk result for Down's syndrome.
What happens at amniocentesis :
Using ultrasound as a guide, a fine needle is passed through the wall of the abdomen (tummy) into the amniotic fluid that surrounds the baby inside the uterus (womb). The cells within the fluid contain the same chromosomes as the baby. A small sample of this fluid is withdrawn and sent to a laboratory for testing. A local anaesthetic is not usually used, and most women feel only mild discomfort. The test takes 5-10 minutes.
The fluid will be tested for Down's syndrome and other chromosomal abnormalities. The results for Down's syndrome and other common chromosomal abnormalities should be available within three working days. However, if all the chromosomes have to be looked at, it can take up to three weeks. This test will reveal your baby's sex, so decide if you want to be told at the same time as you receive your diagnostic test results whether your baby is a boy or a girl.
The risks of amniocentesis :
Amniocentesis has a 0.5%-1% risk of causing a miscarriage. At most, one test in a hundred will result in pregnancy loss. When deciding whether or not to have this test, try to balance the risk of miscarriage with how important the result will be to you.
Using ultrasound as a guide, a fine needle is passed through the wall of the abdomen (tummy) into the amniotic fluid that surrounds the baby inside the uterus (womb). The cells within the fluid contain the same chromosomes as the baby. A small sample of this fluid is withdrawn and sent to a laboratory for testing. A local anaesthetic is not usually used, and most women feel only mild discomfort. The test takes 5-10 minutes.
The fluid will be tested for Down's syndrome and other chromosomal abnormalities. The results for Down's syndrome and other common chromosomal abnormalities should be available within three working days. However, if all the chromosomes have to be looked at, it can take up to three weeks. This test will reveal your baby's sex, so decide if you want to be told at the same time as you receive your diagnostic test results whether your baby is a boy or a girl.
The risks of amniocentesis :
Amniocentesis has a 0.5%-1% risk of causing a miscarriage. At most, one test in a hundred will result in pregnancy loss. When deciding whether or not to have this test, try to balance the risk of miscarriage with how important the result will be to you.
