Antenatal fetal abnormality screening programme

In recent years it has become commonplace for news headlines to feature maternity failings in the UK, often referencing devastating birth injuries to mothers or babies. A recent investigation at Nottingham Trust has highlighted failings within a very specific area of maternity care that is perhaps less often in the spotlight but an area nonetheless where if things go wrong or an NHS Trust breaches their duty the consequences can be devastating for families.

Ultrasounds scans and blood tests are something most people will be expecting to be offered during pregnancy but not everyone is aware of the Antenatal fetal abnormality screening programme that is offered in the UK. This screening programme offers significant benefits, primarily by providing expectant parents with early information about potential genetic or structural anomalies in their unborn child. This early detection allows for informed decision-making, timely medical interventions, and psychological preparedness. For instance, identifying unpreventable chromosomal abnormalities such as Down's syndrome, Edwards' syndrome, or Patau's syndrome through combined blood tests and ultrasound scans enables parents to consider further diagnostic testing or prepare for necessary medical care post-birth.

However, these screening programs have limitations and potential drawbacks. Screening tests do not provide definitive diagnoses but rather assess the likelihood of certain conditions, which can lead to anxiety or false reassurance among expectant parents. Expectant parents should be thoroughly counselled about the pros and cons of accepting antenatal screening tests and not just the initial tests but the steps that could follow if any results came back indicating a high risk of their baby having an abnormality.

A couple mentioned in recent news were expecting their first child in 2019, when a 12-week scan indicated their baby had a high chance of having a chromosomal abnormality. Invasive diagnostic testing was offered in the form of a CVS – chorionic villus sampling which is described here. Two days after the test, initial results showed that their baby had Patau’s syndrome.

The couple were made aware that results from a more detailed analysis of the sample was due back two weeks later but they were told that these results would not provide any additional information. With guidance from the fetal medicine team the couple made the decision to terminate the pregnancy. 6 weeks later the results of the CVS found that there was no chromosomal abnormality and the couple realised they had aborted a likely completely healthy baby.

Their initial positive result had been a false positive – something that according to the NHS website has about a 1% occurrence rate. The fact that there’s any chance of a false positive at all should be explained to the service users to inform their decision-making with regards to accepting such an irreversible procedure without the full facts. Could it be argued that to withhold this fact amounts to breach of duty? What additional risks would have to be considered if the results confirmed the abnormality and an abortion was still the couples choice at a slightly later gestation? Were the couple given a choice to wait and accept potentially elevated risks of a delayed termination?

Another couple mentioned in recent news were pressured to make a decision to terminate their baby because the pregnancy was close to 24 weeks gestation, a legal deadline for termination in some circumstances. The couple had been told that their baby likely had a life-limiting illness and they were waiting for results of, apparently expedited, genetic testing. After waiting for weeks the family say the hospital called to tell them they had less than 24 hours to decide whether to terminate the pregnancy as it would be more complicated to carry out later.

By this point, the pregnancy was just one day under 24 weeks, the legal limit for an abortion in some circumstances. Having been told by doctors - that the baby might not survive or die shortly after birth, or have a life-limiting condition - the couple decided to end the pregnancy. Weeks later the post-mortem results showed that the baby had been completely healthy with no genetic condition.

This scenario has many points that can be examined to try to understand how this avoidable situation occurred. Why do the results of the genetic tests take so long? Is it the actual tests that take this time to be analysed or is it the reporting process? Is it a staffing issue? Could more be done to streamline the processes of genetic testing and reporting. Why were the hospital staff so fixated on the 24 week deadline for the termination of pregnancy?

In a situation where a baby has a known fetal abnormality there is actually no legal time limit. It goes without saying that the later the termination is performed the greater the risk of complication for the mother along with the emotional side and this must be considered as part of the process. Could the couple have been given a choice to wait and accept potentially elevated risks of a delayed termination?

Many NHS trusts have specialist antenatal screening midwives who can guide parents through these complex and emotionally charged situation where difficult decisions need to be made but in my experience the information that the staff provide to service users to guide them is often subjective rather than individualised. A good option is for people who need additional and objective information around antenatal screening and decision making is to utilise independent organisation such as Antenal Results and Choice Antenatal Results and Choices (ARC) – non-directive information and support before, during and after antenatal screening.

ARC is a well-established charity organisation with expertise in all areas of antenatal screening counselling and perhaps it should be mandatory for all service-users facing a decision to terminate a pregnancy for fetal abnormalities should be counselled by an independent party first? Would this mitigate against an unconscious bias or protective steer towards a particular choice from the healthcare professional? Would this act as a safety net to against the weaknesses that so often exist in a convoluted and lengthy NHS processes.