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SugarTown Babies
Information Pages
Screening Tests look for signs of possible problems.
The tests often can help to identify those women who
have an increased risk of having an affected baby,
but they do not give a ‘yes’ or ‘no’answer.
Those women shown to be at increased risk are then more likely to be offered what is called a diagnostic test.
It is the diagnostictest that will give more information about whether the baby really does have the condition that caused the initial concern or not. An amniocentesis is one such diagnostic test. In an 'Amnio.' doctor puts a needle into the womb (uterus) and withdraws some of the fluid that surrounds the baby.The fluid contains unique information about the baby’s ‘make-up’,which is why it is so accurate. There is a risk of miscarriage occuring as a direct result of this test 1:100-200 ask your professional of figures in your area.
Screening tests are only able to suggest whether there is anincreased risk, therefore, some pregnant women may be told there might be a problem only to find that a diagnostictest shows this not to be the case and their babies are not affected (this is called a false positive result).
On the other hand, some women have been told that they are within the ‘normal’ group and that everything seems all right, but it is later found that the baby was affected (this is called a false negative result).
The extent to how useful it is to have a screening test, is often decided by the balance between these false positive and false negative results.
Screening tests are unable to pick up all conditions; some problems such as heart defects may not be noticed until the baby is born. In addition,it is important that some tests are performed at a specific time in your pregnancy,therefore,your dates need to be accurate and if you are not sure of them you may be advised to have an ultrasound scan before having any other tests.Your midwife will offer to take a sample of your blood when you are about 10 weeks pregnant. This sample is sent to a laboratory where the levels of various substances in your blood (also knownas ‘serum markers’) are measured to work out your risk of having a baby with Down’s syndrome.
Many hospitals offer an ultrasound screening test,called a nuchaltranslucency scan,which measures the fluid at the back of the baby’s neck (the nuchal area); a larger than normal amount of fluid can suggest that the baby has an increased risk of having Down’s syndrome.
The scan is normally done between 11 and 13 weeks 6 days of pregnancy.
In some hospitals the scan and the blood test will be considered together to work out a woman’s risk of having a baby with Down’s syndrome.Your midwife, Obstetrician or GP will be able to tell you what services are available in your area.You will normally be given the results of your NT measurementat the time of your scan.If the results of your scan suggest that there is an increased risk of your baby having Down’s syndrome, the midwife will explain your scan results and will talk to you about the options available.
Another diagnostic test that you will usually be offered is called chorionic villus sampling (CVS).
This involves using a syringe to withdraw a small sample of tissue from the placenta (afterbirth).
There are some conditions that cannot be treated and the effects are ‘life-long’.
The most common conditions that you may have heard of are Down’s syndrome and spina bifida.
However, because of the complexity of early fetal development and the influence from inherited conditions, there are many abnormalities that might be detected by a screening test that can only be confirmed by a diagnostic test. In addition,an abnormality found from the fluid sample mentioned above does not give a complete picture of the degree to which the baby might be affected.
If you were to be told the baby might have a disability,you would naturally want as much information as
possible about that condition. Only whenyou feel better informed,will
you be able to decide from theoptions available, which one is right for
you.
Down’s syndrome
is a genetic condition caused by an extrachromosome.
It can also be called trisomy 21, as this is the chromosome most
usually affected.
People affected by Down’s syndrome are likely to have learning
difficulties and certain medical problems.
There is no way of knowing how serious these problems might be
before the baby is born. It is now well recognised that some people
with Down’s syndrome will lead semi or completely independent lives,
although other individuals may need considerably more support and
care.
Your midwife or Obstetrician will offer to take a sample of your blood
between15 and just under 19 weeks of pregnancy,but this is usually
done around 16 weeks when blood may also be taken to check that
your baby’s spine is developing properly.
An ultrasound scan is normally performed before the blood test is
taken to make sure that the results of this screening test are accurate.
A woman’s chance or risk of having a baby with Down’s syndrome is based on her age when she became pregnant and the levels of various substances (serum markers) within her blood. In many hospitals you will be told your risk factor using numbers, for example, a 1 in 175 chance that your baby is affected.
In most hospitals,a chance of 1 in 250 is counted as high-risk.If the screening test shows that you have more than a 1 in 250 chance of carrying an affected baby,then you will be offered the diagnostic test, amniocentesis.
Your midwifeor Obstetrician will ask you how you would like to receive the news, eg by telephone,in a letter, or being told in person.
At the moment the screening tests for Down’s syndrome vary in their accuracy:
- 1 in 3 cases of Down’s syndrome are not picked up byscreening;
- 1 women in 20 is classed as high-risk and is offered anamniocentesis.
- (if Classed as High Risk a 1 in 60 chance that your baby is affected
The amniocentesis result will say definitely whether your baby does or does not have Down’s syndrome.Where you are told that your baby has Down’s syndrome there is usually advice and support readily available,so that you can discuss the future.
Spina bifida and (Neural Tube Defects – NTDs)
Sometimes an unborn baby’s spine, skull or brain does not develop properly during the early weeks of pregnancy.This can result in a condition called spina bifida – where part of the baby’s spinal cord is malformed ‘open’ or ‘closed’, or acondition called anencephaly – where part of the baby’s brain does not grow.Babies born with anencephaly are not able to survive and die soon after birth. People born with spina bifida may show a wide range of physical disabilities, but many lead full and active lives.The baby’s development in pregnancy is a very complex process, so any baby could develop a neural tube defect.
They actually occur in about 1 in 400 births.They are not linked to a woman’s age, though women who have given birth previously to a baby with an NTD may be at increased risk of having another affected pregnancy.
There is also thought to be anincreased risk in women taking some types of anti-epileptic drugs.If you are concerned about any drugs that you are taking at the time you become pregnant, do talk to your midwife, obstetrician or GP.
Taking folic acid tablets just before you get pregnant and in early pregnancy has been shown to reduce the numbers of babies born with NTDs.
The alpha-fetoprotein (AFP) test is quite good at finding open neural tube defects,but it is not perfect.
The ultrasound scan will detect almost all instances of anencephaly, but the results for spina bifida are not quite so good. It can also detect other conditions that cause women to be placed in the high-riskgroup. Some of these conditions can be treated with an operation once the baby is born.
Please discuss all concerns and issues with your health professional.
Remeber it is your decision whether to have screening tests during your pregnancy.
Most women will choose to have screening tests because they want to be sure that their baby is alright. However, being told that you are in a ‘high-risk’ group can cause a lot of anxiety – and in most cases the amniocentesis or scan will give you much more information, and most times will reassure you that the baby does not have these problems. Before you decide whether to have the screening tests ask yourself:
- do I want the information offered by the screening tests?
- what would I do if my baby had Down’s syndrome or an NTD?
- how do I feel about having a child with a disability?
