Screening for sickle cell and beta thalassaemia

Experience of having diagnostic tests

There are two types of diagnostic test, chorionic villus sampling (CVS) and amniocentesis. In these tests, a fine needle is inserted through the abdomen to collect a sample of cells from the placenta or the fluid around the baby for analysis. In CVS, the sample is occasionally taken through the cervix (neck of the womb) rather than the abdomen. CVS is can be performed from around 10 weeks of pregnancy (usually done between weeks 10 and 13), amniocentesis from around 15 weeks. Both tests carry a small risk of miscarriage. 'Screening tests for you and your baby’ (2017) advises that: “About 1 to 2 in every 200 (0.5% - 1%) of diagnostic tests result in a miscarriage.”

Many women feel anxious about the idea of a needle going into their womb, and worry while waiting for the test appointment. The research evidence suggests most women find it less painful than they expected, but a few find it quite upsetting or painful. The women we talked to had varying experiences of pain and anxiety. Having a sympathetic and understanding doctor helped.

All but one of the women felt it had been worth it to have a clear diagnosis. One mother worried that CVS had in some way caused her daughter's condition of beta thalassaemia major (although there is no medical evidence to support this). In her other pregnancies she decided to have no diagnostic tests and the other children are all well. She said that her religious views meant that she would not terminate a pregnancy anyway (although other Muslim women would disagree).

Another mother, also a Muslim, had CVS in two pregnancies but found it so painful she decided against it in her third pregnancy. At the time she thought she would rather wait to find out at birth and leave it in God's hands. Now, having a baby with sickle cell anaemia, she would have CVS if she ever became pregnant again.

See also:

'Values and religious beliefs',

'Getting diagnostic test results'

'Deciding what to do after diagnosis'

If you would like to see more about experiences of diagnosis in pregnancy for other conditions, including Down's syndrome, you can visit our Antenatal screening section.

Last reviewed December 2018.
Last updated
December 2018.


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