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Towards a better society?
A message from the editor: Prof. Joris Vermeesch, Ph.D.
The wife of a colleague was pregnant. Upon her first visit to their physician, she was offered to take the NIPT. However, because of principal reasons my colleague and his wife decided not to take the NIPT and they told their general physician. Upon their first visit to the gynaecologist, they were asked to take the NIPT. Again, they explained why they did not want a NIPT. Since this visit was in the hospital, there was also a nurse, taking care of them. She also asked them for the NIPT. And when checking out the secretary mentioned that they did not yet take the blood draw for the NIPT. So far the first visit. The second visit to the obstetrician had a similar series of events. Again they had to explain three or four times they did not want the NIPT. During pregnancy they also got in touch with the midwife. Again this question. Finally, visiting the hospital again, the same series of questions. Not accepting to take NIPT apparently left a blank in the paperwork. Despite repeatedly explaining they consciously decided not to take NIPT, they were continuously asked to have one. The couple had to decline over 20 times the NIPT offer. It sure takes a lot of conviction not to take the test.
I share this story with you because it raises several questions.
How far should we as caretakers go in offering NIPT? Of course, it is our duty to provide all options of prenatal care to pregnant women. The possibility to detect genetic abnormalities early in pregnancy by analyzing the DNA present in maternal blood is by now standard of care. The decision to take the NIPT is a decision of the pregnant women. There are different reasons why a pregnant woman may decline. If NIPT is reimbursed to all, these can be religious or principle reasons. If NIPT is offered at cost, a large number of women decline because of the costs involved in testing. Considering the experience of my colleague, I think it is important for the obstetric care units to record the wishes of the couples and assure that there is no ‘harassment’ when a couple decides not to take the test. It is the duty of the obstetric and genetic health care workers to facilitate autonomous reproductive choices based on proper pretest information and non-directive counseling.
How free is the choice to have NIPT? In countries where NIPT is reimbursed to all, it might be assumed that all women want the test. Inversely, because the test is free it becomes the exception not to take the test. It requires more conviction and mental strength to say no. The same questions arises about our acceptance of the birth of babies with Down syndrome. If NIPT is free for all, will couples with Down syndrome babies be pointed at? If a birth defect could be avoided, have couples the right to have babies with birth defects? Should society pay for this?
We should remain aware that NIPT is here to help families and care-takers in preparing for the birth of a child. When an aneuploidy is detected, couples can decide to keep the baby or they can opt for interruption. The former option allows the couple to prepare for the delivery, inform and prepare themselves about their future parenting role. The latter option is the mainstream option. But always, it remains a choice. And we need to let the women know. Although we often believe we have freedom to choose, our individual choices are by-and-large made within a larger family, a societal system. The predominant voice of the system often directs the individual choices. Hence, the risk that the choice may rapidly disappear.
Also, society should take care of all people, the bright and brilliant and the poor and handicapped. If we, as a society, stop to do so, society is on a slippery slope. Currently, we can identify the majority of trisomy 21 fetuses prenatally. In the not so distant future, NIPT will allow the detection of a large number of mutations which can lead to birth defects, an ever broadening scope of not only genetic diseases but also traits. The question rises which defects are severe birth defects? To which disorders will we restrict selection. Should this choice be an individual or a societal choice. For the majority of genetic lesions is difficult or near impossible to predict the outcome. Taking trisomy 21 as an example, the large variability in cognitive and developmental outcome in Down syndrome patients makes parental prenatal decision making difficult. Within the fertility laboratories, we see the acceptance of embryo selection for an everincreasing range of diseases and even trait selection on the horizon. It seems plausible we will see a similar acceptance if such testing becomes available via NIPT.
Despite the overall tendency to avoid birth defects, it remains our duty to take care of all. We are all different. This difference makes us, as human beings, interesting. I hope we can go on accepting one another’s differences and that we keep on taking care of one another in the future as we did in the past.