Testing high-risk for having a baby with Downs Syndrome - what does this mean?
With symptoms varying in each person - ranging from appearance, different degrees of learning difficulties and sometimes health complications such as hearing loss and heart conditions - Down’s syndrome is a lifelong condition, which impacts on the entire family.
To identify the likelihood of your baby having Down’s syndrome, your doctor would’ve recommend screening for Down’s syndrome during your pregnancy. While these screening tests can't definitely say whether or not you baby will have Down’s syndrome, they are used to calculate a risk value.
It can be extremely upsetting to learn that your screening tests - by ultrasound (Nuchal Translucency NT) scan, blood tests or both - indicate a higher risk value of your baby having Down’s.
It is definitely not an easy time for you and your partner and you may be unsure about what to do next. However do take heart from the fact that many women, despite being labelled high-risk do go on to have babies without Down’s. Statistically, even with a risk as high as one in five, your baby has four out of five chances that he does not have Down's.
Further, there’s always some possibility that your screening test may have identified your pregnancy as being at high risk of Down's syndrome when in fact, it is not. This is known as a ‘false-positive’.
For an NT scan, the ‘false positive’ rate is five per cent, which means that one in twenty pregnant women are incorrectly labelled as high risk for Down’s.
Similarly the blood tests and the combination tests are not without their share of ‘false positives’ either. The combined tests at 11 to 14 weeks (nuchal translucency scanning and a blood test for HCG and PAPP-A) with a further blood test for AFP, uE3 and inhibin A at 15 weeks to 20 weeks, also has a detection rate of about 94 per cent for Down's syndrome with a five per cent ‘false positive’ rate.
If your screening test results have indicated a high risk for Down’s your doctor will be closely monitoring the developments. He may send you for another screening to confirm the results or suggest a diagnostic test, such as CVS or amniocentesis.
Amniocentesis is more invasive, where a needle is inserted into the womb to collect fluid for genetic testing. It's offered between weeks 15 and 20 of pregnancy.
CVS involves taking a small sample of chorionic villi, which are tiny finger-like projections on the placenta, for further examination. This can be done from 10 weeks into the pregnancy.
Both these procedures carry a small risk of miscarriage, around 1%, which is why they're only offered to those who have a high risk of having a child with Down’s syndrome.
You will also be given a risk for two other chromosomal abnormalities, Trisomy 18 (Edwards' syndrome) and Trisomy 13 (Patau's syndrome). These conditions are much rarer than Down's and if your baby has these conditions, usually it can be picked up on the scan.
In this respect, the advantage of a first-trimester screening test is that you can know if you are testing high-risk for Down’s much earlier. This means you can have a CVS or amniocentesis and know the results while you are still in the first trimester. Traumatic as it may be for you, if you decide to end your pregnancy at this stage, you may be able to have a suction termination instead of a medical termination, which can be even more emotionally disturbing. If you decide to continue on with your pregnancy, as many parents do, it can be helpful to know at this early stage so you can prepare yourself and your family for the arrival of your baby.
In the midst of all the tests, scans, trips to your doctor and advice pouring in from concerned friends and relatives trying to stay calm may not be the easiest thing to do. You and your partner may be going through a roller-coaster of emotions and not sure about what you really want. Nonetheless, discuss your feelings, fears and doubts with each other and your midwife or doctor and then take your time and decide about what you want to do. Just remember that ultimately the decision rests with the two of you.
The National Institute for Health and Clinical Excellence (NICE) guidelines on antenatal care and screening state that while you should be given information about any screening or diagnostic tests available when you first meet with a doctor or midwife during pregnancy, it’s entirely your decision whether or not you want to have any tests at all, to have one test instead of another, or to just to have a screening done but not a diagnostic test.
If you are unsure about what to do next, why not talk to other mums who’ve been through similar experiences. Expressing your feelings can be therapeutic. Talking to someone who has undergone similar circumstances can give you practical and emotional support, and the courage to do what you think is best for you.
Finally, you should know that today, an increasing number of women are choosing to bring a Down's syndrome child into the world rather than have an abortion as many parents believe the social stigma associated with Down's has been removed - there is a much greater inclusion and acceptance of these children in society - and the quality of life for these babies has improved.
Almost all babies born with Down’s syndrome will learn to walk and talk but may reach certain milestones more slowly. Many children learn to read and write and are encouraged to attend mainstream schools instead of special institutes.
Attitudes and opportunities are changing rapidly so that children with Down’s syndrome can grow-up to lead semi-independent lives, hold down jobs and thrive well into their fifties.
Having a child with Down’s syndrome
The emotional affects of having a child with Down’s syndrome will affect you and your family deeply. Your first thoughts will probably be of guilt, that you are somehow responsible for this condition happening. Try not to blame yourself as there is nothing you could or should have done to prevent your child being born with Down’s syndrome. Down’s syndrome children are happy delightful children who can bring just as much joy to grandparents, brothers and sisters and to their parents as ordinary children. They may need extra help along the way but will benefit greatly from a loving family unit behind them. The emphasis on your child should be on what he can do, rather than what he cannot, so try to focus on the positive steps he is achieving rather than comparing him to siblings for example. There are many support groups for parents where meeting with other parents who have a child with Down’s syndrome can be really helpful.
If you want to know more about Down's syndrome, you can contact the Down's Syndrome Association, tel: 0845 2300 372, or the Foundation for People with Learning Disabilities. If you have screened positive for a chromosomal abnormality and would like support and information, you can contact the charity Antenatal Results and Choices, tel: 0207 631 0285.
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