Echoes of the future
If an echo (or ultrasound) detects heart or other defects in a foetus, parents face difficult decisions. Then some idea of their child’s shorter and longer-term future is literally a matter of life and death. Haak will argue in her inaugural lecture that the cohort studies of rare diseases that are needed for this score low on the academic scale.
Haak has been Professor of Obstetrics, specialising in foetal cardiology, since 1 July 2022 and the coordinator of the foetal cardiology programmes at the Leiden University Medical Center (LUMC) since 2011. She is also a practising gynaecologist-perinatologist and foetal surgeon and is one of the few doctors in the Netherlands who performs heart operations on babies in the womb. Her research over the past 15 years has focused on prenatal screening and diagnosing congenital heart defects in foetuses.
Well-informed decisions
‘If parents are sitting opposite me after a 20-week ultrasound or sometimes earlier and I explain that their child has a heart or another defect, they want to know what that will mean for their child when it is 10 or 25. I therefore want to be able to link a diagnosis at 20 weeks and the child’s future prognosis. This information will allow parents to make a well-informed decision about whether to continue the pregnancy.’
Unforgettable experiences
What motivates her in her research are the unforgettable experiences from the first years of her career. ‘Twenty years ago, when a heart defect was discovered after 20 weeks, the conversation between the doctor and parents was mainly about the first operation that would be needed after birth. And as many heart defects can be repaired, many parents felt confident enough to continue the pregnancy.
‘It was already known at the time that anything could happen in the meantime and that there can be additional diagnoses, such as genetic disorders. But the research options were still in their infancy. As a result, parents could have a child with a lot more going on than just a heart defect. That has an enormous impact on the parents’ lives and that of the child.’
Lots of innovation in prenatal screening and diagnostics
To have an honest conversation with parents, Monique Haak has since done a lot of research into the quality of screening and diagnostics to find out what can and cannot be detected during pregnancy. She also researched whether what doctors say to parents at 20 weeks – which informs the parents’ decision – matches the reality.
‘We have had a very innovative 20 years and ultrasound diagnostics have improved hugely’, she says. She mentions a few highlights, such as the improved detection of heart defects and research into the development and growth of these foetuses during pregnancy.
Greater appreciation of cohort studies
‘But a disadvantage of seeing more is that you sometimes come across findings that are so rare that a prognosis is difficult to make. This makes cohort studies, where you follow a number of cases of a disease very closely, extremely important. Unfortunately, this kind of research is unfairly low on the academic scale, which makes it very difficult to find funding, especially for research into rare diseases’, says Haak.
‘Academic appreciation is high for the large randomised controlled studies into common disorders like diabetes or cancer and this is reflected in the funding options. I am critical of that. In my discipline 30 well-documented cases can, so to speak, make the difference for doctors and parents.’
PreCOR register
In recent years she relied on great inventiveness to continue her research. ‘Many of my PhD candidates use the data from the PreCOR register, which contains information about the development of more than 4,000 foetuses with a heart defect. This was started by a PhD candidate in 2007. We recently linked a Biobank with genetic data to it. A fantastic source for research.’
Real progress depends on grants
But it is difficult to take really big steps without funding. ‘The 20-week ultrasound provides a lot of reliable information but increasingly also yields findings whose meaning we don’t really know. Large cohort studies where we pool the cases from all eight prenatal research centres in the Netherlands and also follow the children after birth can offer answers. It’s inconceivable to me that we can’t move forward on this because of low appreciation of cohort studies.’
Plans for the next ten years
Haak sees three focal points in her research over the next ten years: ‘Parents always ask me why it has happened to them. I hope to find answers by linking the Biobank with genetic material to the PreCOR database.
‘And there is a promising drug that may prevent heart block, a condition in which the conduction system of the baby’s heart is damaged by a rheumatic disorder in the mother. The international trial of this drug will be on an unprecedented scale and I would like to coordinate the Dutch part.
‘And in any case I will continue to work on linking the ultrasound findings to a child’s future and to the overall puzzle of factors that play a part in the development of foetuses with congenital heart defects. For this, it is essential that research into rare diseases gains the academic appreciation it deserves.’
Watch Monique Haak’s inaugural lecture live on Friday 2 June from 14:15 hours.
Photo: Pexel