Combined screening for Down’s syndrome and other chromosomal abnormalities: low risk results

All pregnant women in England are offered tests for Down’s syndrome. The tests can provide information about the chance of a baby having Down’s syndrome. These tests use blood samples taken from the mother, measurements taken from ultrasound scans (nuchal translucency scan/dating scan) or both, to work out this chance.

The NHS Fetal Anomaly Screening Programme recommends that women have the ‘combined screening’ for Down’s syndrome – both the blood test and the nuchal translucency scan – rather than just either test on its own. The vast majority of units in England, Scotland and Wales now offer combined screening for Down’s syndrome other chromosomal abnormalities.

Nuchal translucency scans (ultrasound) are normally done between 10–14 weeks of pregnancy. They measure a small fluid collection within the skin at the back of the babys neck (nuchal translucency) to help identify the chance of Down’s syndrome and other conditions. The results are combined with a blood test result (combined screening) to give a more accurate calculation, but these tests cannot give a definite diagnosis.

If the chance is more than 1 in 150, further tests for Down’s syndrome will be offered. If the measurement of the fluid is 3.5mm or greater, women will be advised that this may be an indicator of heart or other problems and a referral to fetal medicine specialists will be offered.

The chance of a baby having Down’s syndrome increases as the mother gets older. The combined screening test assesses your individual probability, and can show whether it is higher or lower than for other women of the same age.

Not everyone we talked to had a nuchal scan. Sometimes it was not offered locally on the NHS, and some people decided they did not want to pay for it privately, particularly if they felt they had a lower chance of their baby having a condition.

One woman chose not to pay privately because she did not get much information until her booking visit and did not feel she really wanted it. (See also Information for making decisions about antenatal screening).

Nuchal scans were not available on the NHS locally and she did not feel the need to have one…

Age at interview 33

Gender Female

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Some people were unsure whether they’d had a nuchal scan or just a dating scan. Many were unaware they could have a blood test at the same time. Some commented that the process seemed very rushed, even if they were well-informed. Two people said that they had made their appointment too late for the scan measurements to be reliable.

For women who book too late for a combined test (after 14 weeks +1 day), the ‘quadruple test’ is offered. (See ‘Blood test screening‘ for more information).

She had the combined nuchal scan and blood test privately, but found out only just in time that…

Age at interview 35

Gender Female

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For most women who had the nuchal scan, like other scans it was an enjoyable experience. Many were impressed at how staff took time to explain what they were seeing on the screen and answered questions. The scan gave them their first chance to see the baby, and made pregnancy seem real. One woman also commented on the high quality of the equipment used for nuchal scans at specialist centres. Some women mentioned the discomfort of waiting with a full bladder, and staff pressing uncomfortably hard as they do the scan.

They were impressed by the professionalism of staff carrying out their nuchal scan and felt well…

Age at interview 37

Gender Female

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Seeing her baby during the nuchal scan was a wonderful experience which made pregnancy seem real.

Age at interview 33

Gender Female

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In most cases, people were reassured by their results (see also Understanding antenatal screening test results), but some felt anxious during the scan itself. Reasons for worrying included:

  • Staff talking to each other, not to the parents
  • Staff calling in a senior colleague without explaining why
  • Staff seeming rushed or detached
  • Having to have a repeat scan
  • Staff keeping or becoming silent without explaining why

Seeing her baby during the nuchal scan was wonderful but it was alarming that staff talked to…

Age at interview 36

Gender Female

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In her second pregnancy, she was anxious that the sonographer doing the nuchal scan seemed rushed…

Age at interview 36

Gender Female

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Most people said they preferred to be talked to throughout the scan and have everything explained, although sometimes the person doing the scan may not feel qualified to discuss the results. A woman carrying twins described different levels of communication in two repeat scans and their effect on her.

In two repeat nuchal scans, she felt the consultant was much more communicative than the first…

Age at interview 38

Gender Female

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One person felt she would probably rather receive bad news after the scan than during it. The importance of human warmth was emphasised by a woman who trained as a doctor, as a message for all professionals communicating with pregnant women, in scans and in other settings.

The sonographer was quiet during her nuchal scan. She would rather wait till after the scan to…

Age at interview 35

Gender Female

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She felt it was important for health staff to imagine themselves in the patient’s place and…

Age at interview 37

Gender Female

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Some people who were reassured by their nuchal scan results later found their baby did have a chromosomal condition, and some people were told they did have an increased chance of something being wrong with the baby.

(See also Combined screening for Downs syndrome and other chromosomal abnormalities: being told something may be wrong, Understanding antenatal screening test results, Deciding whether to have further diagnostic tests and Learning after birth that the baby has a condition).

Many experiences discussed here are common to other types of scan. (See also Early dating scans and 18–20 week scans ).