Amniocentesis – an invasive test

Only you can make this decision, of course, but choosing whether to have a diagnostic test can be very difficult. You have to consider why you need the test – usually because your baby has a high risk of being affected by an abnormality. Some couples want to know as much as possible about their baby before birth – others would rather wait until their baby is born.

If you know in advance that your baby has a birth defect, it can give you time to learn about the kind of help that will be needed. As a couple, you’ll have to decide just how important it is to know whether your baby is affected by an abnormality and compare that against the risk – albeit small – of perhaps miscarrying a healthy baby, due to the test itself.

Whatever you decide, emotions run high

Although you will have to make the final decision on your own, counselling will usually always be offered. This may be from a genetic screening counsellor, or from another specially trained member of the medical team, who can help you consider all the pros and cons and, whether or not you would wish to continue with the pregnancy, if an abnormality were to be detected.

Remember, counsellors are not there to persuade you in any way, they are there to help you find the right answer for your particular situation. As a couple, if your baby is affected by a disability you’ll have to consider the impact this will have on your lifestyle, your relationship and the rest of the family.

Are there any alternative types of investigation?

The Nuchal translucency scan (not yet available in all areas) – usually performed between 11-14 weeks – is the latest and most accurate screening test for Down’s syndrome. It is considered to give a very accurate estimation of risk if you are over 35 years of age – but less so if you are under.
Chorionic villus sampling (CVS) – usually carried out between 11-13 weeks – can give the same information as Amniocentesis. However, it cannot detect neural tube defects like anencephaly and spina bifida, and it does carry a higher risk of miscarriage in some hospitals.

It does seem that, at the moment, the only way to know for sure whether or not your baby has any major abnormality is by amniocentesis testing.