Will new test end Down’s syndrome?

Critics warn blood screening will lead to rise in abortions

PREGNANT women in Scotland are to be offered a controversial new blood test which it’s claimed could all but eradicate Down’s syndrome.

The Scottish Screening Committee is considering Non-Invasive Prenatal Testing (NIPT) as an additional test for Down’s syndrome.

Experts say the procedure is safer than current testing, such as amniocentesis, where a needle is inserted into the womb to extract fluid – but campaigners fear it could lead to a generation with Down’s syndrome being ‘wiped out’.

Concerns have also been raised that its ability to determine the sex of a baby at just nine weeks could be misused.

NIPT, which does not carry the same risk of miscarriage as invasive tests, uses a mother’s blood sample which shows foetal DNA from the placenta at nine weeks. It can be used to test for a range of genetic conditions and variations, including Down’s, Edwards’ and Patau syndromes. It can also determine the sex of a foetus and provide a definitive diagnosis for other genetic conditions, such as cystic fibrosis, achondroplasia and Apert syndrome.

The Scottish Screening Committee is considering the UK National Screening Committee’s (UKNSC) recommendation for implementation of NIPT – and, if agreed, it could be rolled out next year.

The UKNSC, which advises the NHS in all four UK countries on screening, issued its recommendation following a report by the Nuffield Council on Bioethics.

The report concluded that ‘women and couples should be able to access NIPT to enable them to find out at an early stage of pregnancy, if they wish, whether their foetus has a significant medical condition or impairment that manifests at birth or in childhood’. However it warned: ‘Introducing NIPT on the NHS is likely to lead to an increase in diagnoses of Down’s, Edwards’ and Patau’s syndromes, and possibly a rise in terminations.

‘Making NIPT available on the NHS could be perceived as sending negative and hurtful messages about the value of people with the syndromes being tested for.’

The Nuffield Council also warned that unscrupulous clinics could ensure parents have a boy or a baby with desirable genetic traits.

Professor Tom Shakespeare, chairman of the body’s NIPT working group, said: ‘Abortions on the basis of sex appear to be rare in Britain. However, this could change. If left unchecked, use of this technique to determine sex could lead to an increase in sexselective abortions, and to Britain becoming a destination for them. The test also allows whole genome sequencing which is a serious thing. We are calling for a moratorium.’

Campaign group Don’t Screen Us Out said last year that the NIPT programme ‘is projected to result in a profound increase in the number of children with Down’s syndrome screened out by termination. This would have a profound long-term effect on the community of people with Down’s syndrome.’

In the UK, about 750 babies are born with Down’s syndrome every year and there are an estimated 40,000 people with Down’s.

Most people have 23 pairs of chromosomes, but people with Down’s have an extra copy of chromosome 21, which means they develop differently and have varying levels of learning disability.

A spokesman for Down’s Syndrome Scotland said: ‘We believe that people with Down’s can and do lead full and rewarding lives.

‘We acknowledge that the offer of pre-natal screening and testing for Down’s syndrome is a routine part of antenatal care offered in Scotland. We respect parents’ right to make choices about antenatal tests and their outcomes.

‘It is crucial to understand and emphasise that a screening test is not a diagnosis. Women and their

‘Could send negative and hurtful messages’

partners therefore have to be advised that NIPT is not a diagnostic test and that an invasive test will still be required.

‘Down’s Syndrome Scotland is also keen to emphasise that at the time of screening/testing, easily understood and up-to-date information should always be provided in a balanced way by professionals.’

A Scottish Government spokesman said: ‘NIPT raises issues that need to be carefully considered. This is why the UK National Screening Committee has recommended for NIPT to be introduced as part of an evaluative roll out to better understand the impact on women and their partners.

‘The introduction of NIPT will be monitored at each stage and any changes to the processes can be made quickly and effectively.”

‘Issues that need to be carefully considered’