An ethical approach to giving couples information about their fetus

Robert J. Boyle1,4, Lachlan de Crespigny2 and Julian Savulescu3

1 Institute of Child Health, London, UK, 2 Murdoch Children’s Research Institute, Melbourne, Australia and 3 University of Oxford, Oxford, UK

4 To whom correspondence should be addressed at: Department of Paediatrics, Hillingdon Hospital, Pield Heath Road, Hillingdon, Middlesex UB8 3NN, UK. e-mail: BobBoyle{at}doctors.org.uk


    Abstract
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 Abstract
 Introduction
 Harm caused by receiving...
 A demand for ‘limited...
 Conclusions
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The amount of information available to couples about the health of their fetus is increasing. An important question in prenatal diagnosis is what information should be given to couples, and how best to present it. It has been argued elsewhere that, in the absence of economic constraints on testing, there is no place for limiting the information available to couples about their fetus. However, not every couple wants all available information, and it is not always clear what couples do want to know. Providing unwanted information about the health of a fetus may be harmful in a number of ways. Herein, the potential harms of being given unwanted information about one’s fetus are illustrated by using case studies drawn from clinical practice, and a new approach to prenatal diagnosis is suggested. If the harms of being given unwanted information about one’s fetus are to be avoided, then couples need an opportunity to limit the data gathered about their fetus at prenatal diagnosis.

Key words: antenatal ultrasound/autonomy/ethics/prenatal diagnosis


    Introduction
 Top
 Abstract
 Introduction
 Harm caused by receiving...
 A demand for ‘limited...
 Conclusions
 References
 
Today, couples are being offered an ever-increasing range of information about the health of their fetus (GenetestsTM), on the basis of which they may make reproductive decisions. Such information may be of greater or lesser significance for the health of the fetus, or sometimes of uncertain significance (Sepulveda and Lopez-Tenorio, 2001Go). Couples are not always aware of what information may be provided by a prenatal diagnostic test (Marteau et al., 1993Go); indeed, they may not be aware that a planned test can provide information about the health of their fetus at all. For example, at ‘routine’ mid-trimester ultrasound examination at least one in 10 couples may not be considering this information (Eurenius et al., 1997Go). It has been argued elsewhere (Boyle and Savulescu, 2003Go) that if couples require information about their fetus (and if it is economically justified to provide them with appropriate testing), then they have a right to that information—whether it be about ‘minor’ or ‘major’ abnormalities. They also have an equal right to make reproductive decisions subsequent to such information, whether a ‘major’, ‘minor’ or no abnormality has been found. Equally important however is not to impose unwanted information upon couples who have not requested it, as such ‘surprise’ results may force them into making difficult choices and/or adversely affect their attitude to the child after birth (Marteau, 1995Go). Herein, cases are drawn from clinical practice to illustrate the ways in which unwanted information about one’s fetus might be harmful. An ethical approach is then proposed of how to inform couples about the health of their fetus.


    Harm caused by receiving unwanted information about one’s fetus
 Top
 Abstract
 Introduction
 Harm caused by receiving...
 A demand for ‘limited...
 Conclusions
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Information is usually empowering and beneficial. In prenatal testing, it may have powerful implications for the future of a parent or family, and when such information is unwanted it may be harmful, either by forcing couples to make difficult choices about the continuation of the pregnancy (Statham et al., 2000Go) or by affecting their future relationship with their ‘abnormal’ child. It may also harm others in the family by raising concerns about their own health, or by appearing to make a statement about the value of their life (McGowan, 1999Go). These potential harms may be illustrated by clinical cases drawn from our practice.

The anxiety of difficult unwanted choices prenatally
The merit of giving couples information of uncertain significance antenatally is widely discussed in the literature. For example, a number of investigators have debated the merits of reporting ultrasonic markers of chromosome abnormality (Hobbins et al., 2001Go; Smith-Bindman et al., 2001Go). For many couples the finding of such a marker results in emotional turmoil, even though in most cases the marker is of no clinical significance (Fily, 2000Go). This emotional turmoil may be quite unwarranted in couples who at the outset were not interested in such markers, as seen in these two cases drawn from clinical practice:

Case A: An echogenic focus was noted in the left ventricle of the fetal heart in a woman who had previously elected not to have screening for trisomy 21. An echogenic focus is a marker of increased risk of Down syndrome, and has no functional significance (Barsoon et al., 2001Go). The ultrasonologist was unsure whether to communicate the finding to the patient. It seemed wrong to communicate, given the woman’s previous decision regarding screening, but would she change her mind if confronted with this finding?

Case B: A woman was referred by her doctor for an ultrasound examination because of bleeding at 12 weeks gestation. The scan showed a healthy fetus with a thickened nuchal translucency. She was informed that the risk of trisomy 21 was 1 in 87. The woman underwent chorionic villous sampling (CVS), but indicated her anger at being told the risk of trisomy 21—she had not wanted screening for trisomy 21 risk and was unsure if she would terminate an affected fetus. She remained angry about the management, despite a normal karyotype.

In these cases, ‘overzealous’ ultrasonography resulted in distress or potential distress for women who, given a choice, might have elected for a less-detailed scan.

Adverse consequences for the child post-natally
Information about potential ill health in one’s children may adversely affect parent–child interactions, as observed in a number of neonatal screening programmes (Thelin et al., 1985Go), and parental anxiety may persist even after normal follow-up tests (Fyro and Bodegard, 1987Go). Similarly, parent–child interactions and parental anxiety levels might be expected to be affected by information given antenatally (Marteau et al., 1988Go). Such ‘abnormalities’ as carrier status for a recessive condition, a balanced chromosomal translocation or the presence of choroid plexus cysts on antenatal ultrasound may have no impact on the health of the child after birth, yet affect parental views of and relations with their child. They may even result in social stigma, and can be misunderstood by the child themselves (Markel, 1992Go; Hertling-Schaal et al., 2001Go). Another case from clinical practice illustrates this:

Case C: A choroid plexus cyst was noted at a mid-trimester ultrasound examination. Such cysts cause no intellectual impairment but are markers of trisomy 18. After discussion, the woman had an amniocentesis with normal results. Three years later, she returned for an ultrasound examination in her next pregnancy and said ‘see, Peter is still developing normally’. Despite counselling at the time, she had remained convinced that the cyst could result in intellectual handicap. The finding of a choroid plexus cyst had altered her perception of her child.

Implications for other family members
The finding of inherited structural or genetic abnormalities in a fetus may have implications for other family members. While many are grateful for such information and make lifestyle or reproductive decisions accordingly, others may be adversely affected by knowing they have an inherited ‘abnormality’. Moreover, other family members with the same abnormality as the fetus may feel distressed if a decision is made to terminate the pregnancy on the grounds of fetal abnormality (McGowan, 1999Go).


    A demand for ‘limited information’ in prenatal testing
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 A demand for ‘limited...
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There is great demand from couples for information about their fetus, and this demand may increase as the number of prenatal tests increases. Some couples however wish to avoid some of the harms mentioned above; for example, the woman in this case drawn from our practice:

Case D: A woman attended for mid-trimester ultrasound examination. On entering the ultrasound scanning room, she indicated that she did not wish the examiner to look for fetal abnormalities. She wished to know the gestation of the fetus, that it was not a multiple pregnancy, and that the placenta was not low-lying. A brief ultrasound examination was undertaken to assess the pregnancy according to the woman’s wishes, with an effort being made to minimize the examination of fetal anatomy.

Current practice in many countries is for professionals to decide on behalf of patients what information is important to the patient (de Crespigny and Savulescu, 2002Go). Once the professionals have gathered information, then they may be considered to have a legal duty to pass it on to the patient, if it is important for either the parents’ or their fetus’ health care (Rogers versus Whitaker, 1992Go). The woman described in Case D was unusual in that she was aware that ultrasound may detect structural fetal anomalies, had reflected on the implications of finding an abnormality, and was forceful enough to present her views prior to the ultrasound examination. It is clear from this case however that there are some women who do not want to be given the difficult choice of whether to terminate a pregnancy where an abnormality has been found in the fetus.

In the next section, an approach is outlined whereby couples may be offered control over the information gathered about their fetus in antenatal ultrasound, and some of the issues for prenatal chromosome analysis are discussed.

Antenatal ultrasound
It has been advocated that all pregnant women should be offered a mid-trimester ultrasound examination (Chervenak et al., 1989Go), and this examination is common practice in most developed countries. In low-risk women, the principal goal is to detect fetal abnormalities; hence, women who do not wish to have a test for fetal abnormality should consider not having a mid-trimester ultrasound examination. Most women find such an examination a positive experience however, and few are likely to have the foresight to opt out of receiving information about fetal abnormalities unless explicitly given the opportunity to do so. A suggested questionnaire to be completed by couples prior to antenatal ultrasound is shown in Table I, and is designed to give them this opportunity.


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Table I. A suggested questionnaire for couples to enhance their autonomy in antenatal ultrasound examination.
 
Prenatal testing for chromosomal abnormality
Most women having amniocentesis or CVS for any reason have a chromosome analysis. Testing for Down syndrome is usually the major indication, but other abnormalities such as sex chromosome aneuploidy or normal variants such as familial chromosome rearrangements may be discovered incidentally. Women and couples need to be prepared for these possibilities. Interphase fluorescence in-situ hybridization (FISH) is a relatively new technique which can be used to look for one or a group of chromosomal abnormalities without examining every chromosome. Unlike conventional karyotyping, the technique may be used to detect trisomy 21 without the possibility of detecting sex chromosome abnormalities, other trisomies or familial chromosome rearrangements (Witters et al., 2002Go). Couples need the opportunity to limit the information gathered in prenatal chromosome analysis; hence it is proposed that, where available, interphase FISH analysis looking for a limited number of chromosome abnormalities should be offered as an alternative to a full karyotype. Thus, couples may if they wish ask the question ‘does my fetus have Down syndrome’ without receiving information about other chromosomal abnormalities or variations which they do not wish to know about. Such an opportunity is not currently offered in most centres, but would enhance patient autonomy and avoid giving couples unwanted yet powerful genetic information about their fetus.

Likewise, where a couple use CVS to detect a recessively inherited condition, they should state before undergoing testing whether they are interested in knowing the carrier status of an unaffected fetus or not (Boyle and Savulescu, 2003Go). In practice, couples are often given this choice already, as part of the genetic counselling that they receive. In both genetic tests and antenatal ultrasound examination, if an ‘unasked for’ abnormality is noted accidentally that has definite implications for the health of the fetus or family, then the couple should be informed (Rogers versus Whitaker, 1992Go).


    Conclusions
 Top
 Abstract
 Introduction
 Harm caused by receiving...
 A demand for ‘limited...
 Conclusions
 References
 
Some information from prenatal tests might cause harm to a couple or their unborn child. Such harm may not outweigh the benefits of the information, as providing information is generally good, allows more effective planning, and also promotes autonomy. Refusing relevant information frustrates autonomy (Savulescu, 1994Go; Savulescu and Momeyer, 1997Go). However, couples have the right to remain ignorant, and also the right to refuse to have information, especially when it may cause some harm. Obstetricians and geneticists need neither go to the extreme of shielding couples from ‘trivial’ or ‘confusing’ information at prenatal diagnosis, nor of imparting all information to them. Couples simply need an opportunity to inform professionals of their wishes prior to undergoing testing, and they should have this opportunity routinely.



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    References
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 Harm caused by receiving...
 A demand for ‘limited...
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Submitted on June 27, 2003; accepted on August 5, 2003.





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