Commentary: No risk, no objections? Ethical pitfalls of cell-free fetal DNA and RNA testingBMJ 2009; 339 doi: https://doi.org/10.1136/bmj.b2690 (Published 06 July 2009) Cite this as: BMJ 2009;339:b2690
All rapid responses
The evolving possibility of early, safe and easy non-invasive
prenatal diagnosis (NIPD) raises several ethical issues, among which in
particular the aspect of informed consent has recently been addressed in
the BMJ. Schmitz, Henn and Netzer assert that NIPD may especially
undermine informed consent if it is offered on a broad scale (1). It is
feared that, as a result, NIPD might threaten autonomous reproductive
decision making by pregnant women. To avert this pitfall, they suggest a
two step approach for NIPD. Wright and Chitty also raise the issue of
informed consent and mention an experimental study that shows health care
professionals to be less likely to obtain written informed consent prior
to NIPD when compared to (current) invasive prenatal diagnosis (2).
Informed consent is generally acknowledged to be a prerequisite for
any prenatal test. Nevertheless, failures to meet this prerequisite for
current prenatal testing have been reported manifold, even in two step
testing procedures (3,4,5). Given these failures, it should be determined
whether the requirement of informed consent will be enforced if necessary
or if noncompliance with this requirement will be tolerated in practice.
If its actual assertion is refrained from, I consider it to be very
unlikely that a future suboptimal implementation of informed consent for
NIPD can be precluded.
The ultimate question therefore seems to be to what extent the
requirement of informed consent is really valued and upheld. Formerly
revealed shortcomings have, to my knowledge, never been counteracted with
drastic re-establishing measures. In this respect, it may be worthwhile to
look at other ways of dealing with failing quality standards, like in the
Senseo®-recall earlier this year (6).
In the Senseo®-case some series of this one-cup coffeemaker appeared
to have an electrical fault, leading to a chance of less than 3 in a
million per year that the boiler would burst and cause injury to the
customers. “Because it matters very much to Philips to guarantee its
customers welfare” (7) it was decided to have all (several million) these
coffeemakers recalled and repaired or replaced. Of course a cup of coffee
is incomparable with a prenatal test as regards complexity and impact, but
a comparison may still be fruitful.
Whereas the aim of a one-cup coffeemaker is to make consumers safely
enjoy a nice cup of coffee and not to be blown in the face and injured by
it, the aim of prenatal testing is to enable pregnant women to make
autonomous reproductive decisions and not to be smacked in the face by
unwanted choices about their pregnancies. The possible harm caused by
disregarding the requirement of informed consent can be even more than the
physical harm by the defective coffeemaker. Even if this failure occurs
less than 3 in a million times per year - which it doesn’t.
The question should therefore first and foremost be who will enforce,
if necessary, the prerequisite of informed consent for any prenatal test,
and how this will be done. The coffee-case had a Mr. Philips to intervene:
who will be the vindicator in the prenatal case?
(1) Schmitz D, Henn W, Netzer C. No risk, no objections? Ethical
pitfalls of cell-free fetal DNA and RNA testing. BMJ 2009; 339: b2690.
(2) Wright CF, Chitty LS. Cell-free fetal DNA and RNA in maternal
blood: implications for safer antenatal testing. BMJ 2009; 339: b2451.
(3) Schmitz D, Netzer C, Henn W: An offer you can't refuse? Ethical
implications of non-invasive prenatal diagnosis. Nat Rev Genet 2009; 10:
(4) Green J, Hewison J, Bekker H, Bryant L, Cuckle H: Psychosocial
aspects of genetic screening of pregnant women and newborns: a systematic
review. Health Technol Assess 2004; 8.
(5) Marteau TM, Dormandy E: Facilitating Informed Choice in Prenatal
Testing: How Well Are We Doing? Am J Med Genet 2001; 106: 185-190.
Competing interests: No competing interests
The Rapid Response of Deans and Newson gives us the opportunity to
emphasize some fundamental points of our commentary and also to clarify
First, we did not state that termination is the typical goal of prenatal
diagnosis, but providing the option to terminate a pregnancy with an
affected fetus. Without such an option, there would not be much to decide
about for the pregnant woman and no informed decision-making to be
Second, Deans and Newson stated that most ethical issues we appeal to are
concerning prenatal diagnosis in general. And indeed all issues which
Deans and Newson cite (like misuse for sex selection, like balancing the
rights of the fetus) have been named in the short second paragraph about
general ethical issues in prenatal diagnosis in our commentary. We did not
state that they are in any kind special for NIPD and therefore cannot
understand their criticism concerning this point.
We do think, however, that NIPD is special with respect to the autonomy of
the pregnant women, a fear which according to Deans and Newson is
unrealistic. We cannot follow them in this regard without ignoring
empirical evidence about the quality of informed consent in currently
available prenatal screening procedures [e.g.1-4].
In our view, it would be unrealistic not to address autonomy-related
questions thoroughly and with great caution when implementing NIPD - a new
technology which (as we stated in our commentary) under certain
circumstances can indeed be a helpful and promising new option for
 Bundeszentrale für gesundheitliche Aufklärung (BZgA). Experience
of Pregnancy and Prenatal Diagnosis 2006, Köln 2006
 Gourounti,K. & Sandall,J. Do pregnant women in Greece make
informed choices about antenatal screening for Down's syndrome? A
questionnaire survey. Midwifery 2008; 24:153-162.
 Favre,R. et al. How important is consent in maternal serum
screening for Down syndrome in France? Information and consent evaluation
in maternal serum screening for Down syndrome: a French study. Prenat.
Diagn. 2007; 27:197-205.
 Dahl,K., Kesmodel,U., Hvidman,L., & Olesen,F. Informed
consent: providing information about prenatal examinations. Acta Obstet.
Gynecol. Scand. 2006; 85:1420-1425.
Competing interests: No competing interests
ARC is the only UK charity providing non-directive information and
support to parents before, during and after antenatal testing and when an
abnormality is diagnosed in an unborn baby. While we entirely agree with
Schmitz et al that the implementation of NIPD must be accompanied by high
quality and timely pre-test counselling, we feel they overplay the ethical
ARC has over twenty years’ experience of talking to parents on our
National Helpline on all aspects of antenatal testing and its aftermath.
Our most common call is from parents wrestling with the decision about
whether to have an invasive diagnostic procedure. They agonize over
whether to put their pregnancy at risk in order to have conclusive
information on a genetic condition; not all would consider a termination,
but simply need to have a definitive answer. Many come to us desperate to
know if there is a risk-free alternative. From our experience we can
predict that if NIPD were to provide safe but reliable diagnoses of
aneuploidy and other genetic conditions it would prove popular with many
parents and ARC would welcome such a technological breakthrough.
For most parents the earlier reassurance that NIPD could bring will
be welcome. But for those who are given a positive diagnosis, the decision
about the future of what is most often a wanted pregnancy is difficult
regardless of gestation. Even early in the first trimester parents will
almost always refer to their baby rather than a fetus. They are well aware
of the ethical dimension of the decision to have a termination as they
know they will live with this choice. Furthermore, there is no evidence
that earlier terminations for fetal abnormality have substantially less
long term emotional impact on women and couples than those carried out
later in the pregnancy.1
There is a precedent for a non-invasive diagnostic tool in routine
use in antenatal care, namely ultrasound scanning. Every time an
ultrasound probe is placed on the abdomen of a pregnant woman there is the
possibility that an abnormality will be detected. Although information
provision to women about the purpose of antenatal ultrasound has improved,
we cannot underestimate the profound impact on parents when the scan shows
that there is something wrong. However well-informed a woman may be, such
news will always come as a shock and generate considerable anxiety and
distress. This will also be the case for a diagnosis made from NIPD, even
if it comes earlier in pregnancy and even if they have been fully informed
of the potential consequences before undertaking the procedure.
Just as ARC does now in the context of obstetric ultrasound, along
with good pre-test counselling we would advocate the implementation of
carefully co-ordinated non-directive care pathways when NIPD reveals an
affected pregnancy. If this happens, we do not share the view expressed by
Schmitz et al that a woman’s reproductive autonomy will be under threat.
1 Statham, H. "Prenatal diagnosis of fetal abnormality: the decision
to terminate the pregnancy and the psychological consequences." Fetal
and Maternal Medicine Review 13: 213 - 247. 2002
Competing interests: No competing interests
Schmitz et al. sensibly argue that non-invasive prenatal diagnosis (NIPD) should be accompanied by two-step counselling. However, they misrepresent the goals of NIPD and mostly appeal to problems concerning prenatal testing in general.
The “typical goal” of prenatal diagnosis is not termination of pregnancy, but to offer information to facilitate informed decision-making. This could lead to a termination, but may also provide opportunities to plan for a child with a disability or for management of pregnancy or delivery. NIPD could also offer women the chance to find out important information about conditions they would not terminate for without risking their pregnancy.
Balancing a pregnant woman’s autonomy with the (possible) rights of the fetus is a long-standing issue, but is not new to NIPD. It is an accepted part of prenatal testing that the informed wishes of a couple and the bodily integrity of the pregnant woman necessarily override the interests of the fetus. For those who take a gradualist approach to fetal rights, NIPD could actually be of comfort, since testing can take place earlier in pregnancy. Longer waits for results and possible conflicts with legal time limits for termination may also be avoided.
Schmitz et al. suggest NIPD may be misused for sex selection. First, sex selection, and other non-medical uses of prenatal testing, may not always be ‘misuses’, a point we cannot expand further here. Second, this is not unique to NIPD and adopting such a precautionary stance would necessitate withdrawing all prenatal testing since this too may be subject to abuse. Third, the majority of NIPD would be used by women with wanted pregnancies; just because NIPD could be used to discover trivial facts this does not mean women would terminate for these reasons.
NIPD may provide definitive information quickly, early and relatively easily for conditions currently tested for at the risk of miscarriage. Any disability stigmatisation that accompanies this should be taken seriously, but NIPD would not offer any new dimension to this issue and, given the morally significant advantages that are likely to come with NIPD, this is not a sufficient reason to prevent access to this technology.
We agree with the authors that good counselling is an important element to autonomous decision-making in all prenatal testing and that the removal of test-associated risk may have implications for women’s justification for refusing testing. There is evidence to suggest routinisation of NIPD may lead to an erosion of autonomous decision-making; but this should be tackled by putting in place rigorous professional education procedures to encourage choice. Schmitz et al.’s scenario in which ill-informed women suddenly find themselves having to make a decision is unrealistic. Across Europe the introduction of NIPD would be embedded within a framework of comprehensive practitioner education and development of clear and balanced information for women and couples making decisions in pregnancy.
 Newson AJ. Ethical aspects arising from non-invasive fetal diagnosis. Semin Fetal Neonatal Med 2008;13:103-8.
 Van den Heuvel A, Chitty L, Dormandy E, Newson A, Deans Z, Attwood S, et al. Will the introduction of non-invasive prenatal diagnostic testing erode informed choices? An experimental study of health care professionals. Patient Educ Couns [Epub ahead of print 2009 June 26].
 Chitty LS, van der Schoot CE, Hahn S, Avent ND. SAFE-The Special Non-invasive Advances in Fetal and Neonatal Evaluation Network: aims and achievements. Prenat.Diagn 2008;28(2):83-88.
 RAPID project: Reliable Accurate Non-Invasive Prenatal Diagnosis (www.rapid.nhs.uk).
Competing interests: No competing interests