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For Down’s syndrome, a blood test called the quadruple test is available from weeks 14-20 of pregnancy.For Patau’s and Edwards’ syndromes, you will be offered a mid-pregnancy scan that checks for physical abnormalities.At present this test isn't available everywhere, but can show up a number of disorders in your developing baby, including Down syndrome, though not spina bifida.CVS is 99.9% accurate, but is carried out less often than amniocentesis, due to the fact that it is more specialised and is also expensive.In Europe, both CVS and amniocentesis are carried out more where there is private and insurance-based medical care.At present, CVS and amniocentesis are the only tests available which can make a definite diagnosis of disabling conditions in the unborn baby.
The procedure takes about 45 minutes, although the collection of fluid takes less than five minutes.
Inherited or genetic concerns lead some parents to choose amniocentesis to determine if specific genetic disorders may be present in their baby.
An ultrasound is used as a guide to determine a safe location for the needle to enter the amniotic sac, so the fluid may be safely removed.
Results can be received back within 7-10 days, although sometimes they can be inconclusive, meaning that a re-rest is needed.
You may be offered this test if you are an older woman who is at higher risk of having a baby with Down syndrome, or if you are at risk of having a baby with certain inherited diseases, such as sickle cell anaemia or thalassaemia.