Down's syndrome - Diagnosis 

Diagnosing Down's syndrome 

Video: antenatal screening

Antenatal screening helps you manage your pregnancy better and lets you know how your baby is progressing. Two mums talk about what screening involves.

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Future screening test

A recent study suggests that a new test may become a viable way of screening for Down's syndrome during pregnancy.

The test involves a non-invasive, DNA-based blood test 10 weeks into pregnancy, followed by the usual ultrasound scan at 12 weeks.

The main advantages would be that this would offer parents an earlier test for the condition, and there would be less chance of a false positive result. This would help avoid unnecessary invasive tests.

For more information, see new Down's syndrome blood test.

Special needs in children

If your child has a health condition or disability, they may need specialised healthcare and help at school

Antenatal screening and testing can detect the likelihood of a baby being born with Down's syndrome. However, the condition is often diagnosed after birth, when the physical characteristics of Down's syndrome are recognised.

Antenatal screening

Pregnant women of any age should be offered screening for genetic conditions such as Down's syndrome.

Antenatal screening is a way of assessing the likelihood of your baby developing, or already having developed, an abnormality during your pregnancy. It cannot diagnose conditions such as Down's syndrome, but may help with the decision to have pre-natal diagnostic tests.

You should ideally have antenatal screening for Down's syndrome by the end of your first trimester (13 weeks and six days). Most women are screened between 11 and 13 weeks. However, if necessary, it is possible to have screening up to 20 weeks into your pregnancy (this may involve more blood tests).

Read more information about antenatal appointments and the pregnancy care guide.

Screening tests can:

  • reassure you that your baby has no detected structural abnormalities
  • give you time to prepare for the arrival of a baby with additional needs
  • enable you to consider termination

Tests can also provide valuable information for your care during the pregnancy. However, no test can guarantee your baby will be born without an abnormality. No test is 100% accurate and some abnormalities may remain undetected.

If the chance of Down's syndrome (or any other condition) is shown to be high, you may be offered pre-natal diagnostic tests. These are tests to find out the likelihood of your baby being born with the suspected condition.

Combined test

The screening test used for Down's syndrome is known as the "combined test". It includes a blood test and ultrasound scan.

A sample of your blood is taken and tested to check the levels of certain proteins and hormones. If your blood contains abnormal levels of these substances, you may have an increased chance of having a baby with Down's syndrome.

A special type of ultrasound scan, known as nuchal translucency, measures the pocket of fluid behind the baby's neck. Babies with Down's syndrome usually have more fluid in their neck than normal. Measuring the thickness of fluid will help determine whether your baby is likely to have Down's syndrome.

Pre-natal diagnostic tests

If the results of your antenatal screening or ultrasound scan suggest your baby may have an increased chance of a condition, such as Down's syndrome, you may be advised to have further tests.

Chorionic villus sampling (CVS) or amniocentesis both test for health problems while the baby is still in the womb.

It is important to be aware that both of these tests can result in complications, although this is uncommon. Your GP or midwife can discuss your options with you in detail.

Chorionic villus sampling (CVS)

Chorionic villus sampling (CVS) involves taking a small sample of the placenta for closer examination. The placenta is the organ in which the foetus develops.

CVS can be performed after 10 weeks of pregnancy. The sample is taken either by passing a thin needle through the wall of your abdomen (tummy), or by passing a small tube through your vagina and the neck of your womb (cervix).

The needle or tube is guided into the correct position using an ultrasound scan. After the sample has been taken, it will be sent to a laboratory for testing. The results will show whether your baby has Down's syndrome.

Possible complications of CVS include infection, heavy bleeding and miscarriage. It is estimated that approximately 1 in every 100 women will have a miscarriage following CVS.

Amniocentesis

Amniocentesis involves taking a small sample of amniotic fluid (the fluid that surrounds the foetus in the womb) for examination.

Amniocentesis is usually carried out after week 15 of pregnancy, and can be carried out up until week 22. The sample of amniotic fluid is taken by passing a needle through your abdomen (tummy) and womb. The sample is drawn out through a syringe. 

As with CVS, the needle is guided into the correct position using an ultrasound scan. After the sample of amniotic fluid has been taken, it will be sent to a laboratory for testing.

Possible complications of amniocentesis can include infection and injury to you or your baby.

As with CVS, there is also a 1 in a 100 chance of having a miscarriage after the procedure.

Counselling

Being told that your baby may have Down's syndrome can be difficult news to deal with. You should be offered counselling to allow you and your partner to discuss the impact of the diagnosis upon you, and talk about the available options. This will allow you to make an informed decision about how to proceed with the pregnancy.

Read more about genetic testing and counselling.

Diagnosis after birth

Once your baby is born, the initial diagnosis of Down's syndrome is usually based on your baby's physical appearance. 

Read more about the characteristics of Down's syndrome.

If your doctor needs to definitively diagnose Down's syndrome, they will arrange for a blood test called a chromosomal karyotype. A sample of your baby's blood will be taken and sent to a laboratory so that the chromosomes in the blood can be analysed. If the blood test finds that there is an extra chromosome 21, your baby will be diagnosed with Down's syndrome.

Page last reviewed: 24/01/2013

Next review due: 24/01/2015

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Comments

The 2 comments posted are personal views. Any information they give has not been checked and may not be accurate.

Andrew Judd said on 06 November 2011

your text is again confused and misleading.

"All pregnant women, no matter what their age, should be given the choice to have screening for genetic conditions such as Down’s syndrome.

Antenatal screening is a way of assessing whether your unborn baby could develop, or has developed, an abnormality during your pregnancy.

Antenatal screening cannot diagnose conditions such as Down’s syndrome, but it can determine the likelihood of your baby developing the syndrome.

If the risk of Down’s syndrome (or any other condition) is shown to be high, further testing can be arranged to confirm whether or not your baby has the condition. The test that is used for Down’s syndrome is a combined blood test and an ultrasound scan, which is known as the ‘combined test’.

The 'combined test' is just a statistical method used in screening. Your text directly implies it is the diagnostic test used to investigate a postive screen test.

Please get these pages changed so people dont have to go thru what we went thru after being told our pregnancy was normal.

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Andrew Judd said on 06 November 2011

Your text on reliability of screening says:

"•a false-negative result, where a test gives an ‘all-clear’ by indicating that no problems have been found, but in reality the test has failed to detect a problem, such as the child having Down’s syndrome "

This text is horribly misleading. 'All clear' suggests *all* was clear. In reality all was not even tested to get the false negative result in screening.

By the way i dont live in the UK. I live in Finland. In Finland the tests seem to work in a similar way. Here even the paedeatrics department

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