Attending the 2018 World Down's Syndrome Congress inspired me to address the need for a care pathway for Down Syndrome in the ante- and postnatal periods, in collaboration with my Hospital Trust. The pathway will incorporate non-invasive prenatal testing (NIPT) for the common trisomies (Down, Edward's and Patau's Syndromes), which is due to be rolled out in the NHS in 2019 (Department of Health, 2016).
What is NIPT?
Fetal fraction, a small amount of cell-free DNA from the fetus, circulates in the maternal bloodstream. These DNA fragments are examined for trisomy (the addition of an extra chromosome in each cell). The results of this are analysed against maternal age and gestation to produce either a high or low probability that the fetus has each of the three trisomies.
The benefit of this test is that it involves a single maternal blood test, any time from 10 weeks' gestation. Unlike the other second-stage tests, amniocentesis and chorionic villus sampling, it carries no risk to the fetus (Ralph and Marshall, 2018)
The ‘combined test’ (an ultrasound and blood test) will continue to be the first step. Only those who receive a high chance result from the preliminary screening tests (combined or quadruple) will be offered NIPT. It is not a diagnostic test and therefore amniocentesis and chorionic villus sampling will continue to be offered to women. However, with false positive rates of <0.1%, its high sensitivity makes it a favourable alternative.
#Don'tScreenUsOut
Although NIPT has been privately available since 2012, its adoption into the NHS has caused some scepticism and concern. Campaigns such as #Don'tScreenUsOut have emerged, highlighting the concerns among the trisomy community. These fears are rooted in the fact that in a UK survey between 2011 and 2013, more than 90% of women receiving a prenatal diagnosis of Down Syndrome chose to terminate (Morris and Springett, 2013). If these figures remain true, then NIPT with a <0.1% false positive rate and >99% detection rate could have a devastating effect on the Down Syndrome community. The campaign stresses that if parents are not given sufficient information or support antenatally, the implementation of NIPT in the NHS could lead to discrimination.
As a student midwife, I am torn. While I can empathise with these fears, preventing the test from being offered goes against each woman's right to informed choice, and it is a midwife's duty to advocate that every woman, regardless of financial circumstances, has the chance to understand as much as she can about her pregnancy.
However, NIPT risks reducing the diversity and joy that people with trisomy bring. This issue is therefore not something to be taken lightly or put to rest.
The pivotal point made by campaigners is that society is not yet ready for NIPT. Until society fully accommodates, includes and supports individuals with trisomy conditions, NIPT should not be implemented (Don't Screen Us Out, 2016).
Therefore, we should not be seeking to limit the information available to parents, but instead be making bolder steps to enhance it. If women in 2013 had had the opportunity to fully explore the world of a child with Down Syndrome, would 90% of them still have chosen a termination?
What can you do?
In most cases, the midwife will be the first to give pre-test counselling and the first to discuss screening results. Given that the public knows little about trisomy conditions, language and tone in these contacts are critical. Midwives and doctors are trusted, so change needs to start here.
National recommendations require the multidisciplinary team to be given training on the reality of living with trisomy conditions to ensure that practitioners can provide balanced and evidence-based information to parents. However, no amount of training can replace the depth of insight that other parents have, and therefore contact with families with a similar diagnosis should be a priority.
Parents who attended the 2018 Congress shared how well-chosen words could make a difference during consultations, and how certain phrases were upsetting or unhelpful. The Down's Syndrome Association (2019) provides a useful terminology guide.
Health professionals have an opportunity to reduce misconceptions or prejudices that prospective parents might have and move us towards an accepting, inclusive and supportive society, where NIPT can be offered free of fear, one result at a time.