“There is a 1 in 100 chance that your baby is affected by Edward’s syndrome or Patau’s syndrome”. That unexpected phone call from a stranger can change your life in a moment. Your brain scrambles to make sense of what you are hearing, to understand, to “un-hear” and deny that this news applies to you.
For many years I was the midwife who made those phone calls. Every time I received a “higher chance” result from the laboratory I would hold that result in my hands recognising the responsibility I had to share this news with a stranger in a way that they were able to hear. In a way that allowed them to understand. In a way that didn’t direct their thinking about what they should do.
Many people hadn’t actually recognised that they were having “a test”, even though they had signed a form to say that they had read the information provided by the NHS National Screening Committee about screening tests for Down’s, Edward’s and Patau’s syndromes.
Many people had been reassured by seeing their baby at the routine first trimester scan and had heard the sonographer say that “everything looks fine”, not hearing or understanding that scans in pregnancy don’t reveal everything. In fact rather than saying that everything is normal, a scan can only say that nothing unusual has been detected. That is fundamentally very different. Edward’s syndrome or Patau’s syndrome usually cause differences which can be seen at the mid pregnancy scan, but often not at 12 weeks.
Many people, excited after the first scan, had started to tell family, friends, the employer, that they were pregnant. Suddenly, the world stopped for a moment as they heard that their baby may face major issues.
The combined test gives a statistical assessment of the chance that a baby is affected by the three most common trisomies. Trisomy means that the baby has three copies of a particular chromosome. See my earlier blog about chromosome abnormalities found in pregnancy.
Further test options
The NHS offers additional testing to anyone who has a result of 1 in 150 or greater chance. The test routinely offered is either amniocentesis or chorionic villus sampling, an invasive test. Trying to work out what the numbers mean for you is difficult. Trying to balance the chance that your baby is affected, with the chance of miscarriage posed by the test. Flipping the numbers around, recognising that 1 in 100 is 99% chance that baby is not affected.
In some areas a newer type of test NIPT (non-invasive trisomy testing) is available within the NHS in certain circumstances, in other area it has to be done privately. It is very important that you understand the difference between these types of tests before making a decision.
What would trisomy 18 or trisomy 13 mean for us?
Whilst processing the statistical issues and the test choices, there is also the need to think about what it would mean for you if your baby was affected by either of these conditions. They are both very significant in their effects. Most babies affected by them, if they are able to survive until birth live only a short time afterwards. It used to be said that these conditions “are not compatible with life”, but this is untrue. What is true is that affected babies have a very much shortened life expectancy. SOFT UK is the national support organisation for families affected by trisomy 13 and trisomy 18. There is very valuable information on their website about the conditions and a section about test results in pregnancy.
Do I have to have a termination?
In many cases, the family and those around them , including healthcare staff, assume that the automatic consequence of identifying Edward’s syndrome or Patau’s syndrome, is that a termination (abortion) will be arranged. For some people, that is what they conclude to be the correct way forward, for others it is fundamentally wrong. This is sometimes based on religious beliefs but others simply feel that for them and their baby they prefer to watch and wait, allowing them whatever time with their baby is possible. Most people need a significant amount of time, ideally supported by someone with both the understanding of the medical issues as well as highly developed counselling and support skills. A study published in 2105 about continuing a pregnancy in such a situation, concluded that “the risks and benefits, including psychological effects, of termination and continuation of pregnancy should be discussed in detail with an effort to be as non-directive as possible.”
Continuity of midwifery care
Whether you have additional tests, end the pregnancy or continue (either with certainty of a diagnosis or a strong but unconfirmed suspicion), continuity of care can make a major difference. NHS midwifery services are striving to provide continuity of care. Ask if there is a midwife who has the expert skills and knowledge to provide this for you in your hospital. Ask if that midwife has supported other families on this journey. If this isn’t yet available in your area, you might choose to employ an independent specialist midwife to supplement NHS services.
Walking With You provides non-directive information and support. As a midwife specialising in these complex areas, and with extensive experience, I am here to listen, to answer your questions and to help you to make and enact the decisions that are right for you.