1 Institute of Child Health, London, UK, 2 Murdoch Childrens 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 |
---|
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
---|
Key words: antenatal ultrasound/autonomy/ethics/prenatal diagnosis
![]() |
Introduction |
---|
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
---|
![]() |
Harm caused by receiving unwanted information about ones fetus |
---|
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
---|
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., 2001; Smith-Bindman et al., 2001
). 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, 2000
). 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., 2001). The ultrasonologist was unsure whether to communicate the finding to the patient. It seemed wrong to communicate, given the womans 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 21she 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 ones children may adversely affect parentchild interactions, as observed in a number of neonatal screening programmes (Thelin et al., 1985), and parental anxiety may persist even after normal follow-up tests (Fyro and Bodegard, 1987
). Similarly, parentchild interactions and parental anxiety levels might be expected to be affected by information given antenatally (Marteau et al., 1988
). 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, 1992
; Hertling-Schaal et al., 2001
). 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, 1999).
![]() |
A demand for limited information in prenatal testing |
---|
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
---|
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 womans 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, 2002). 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, 1992
). 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., 1989), 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.
|
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, 2003). 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, 1992
).
![]() |
Conclusions |
---|
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
---|
|
![]() |
References |
---|
![]() ![]() ![]() ![]() ![]() ![]() ![]() |
---|
Boyle, R.J. and Savulescu, J. (2003) Prenatal diagnosis for minor genetic abnormalities is ethical. Am. J. Bioethics, 3(1), InFocus.
Chervenak, F., McCullough, L. and Chervenak, J. (1989) Prenatal informed consent for sonogram: an indication for obstetrical ultrasound. Am. J. Obstet. Gynecol., 161, 857861.[ISI][Medline]
de Crespigny, L. and Savulescu, J. (2002) Is paternalism alive and well in obstetric ultrasound? Helping couples choose their children. Ultrasound Obstet. Gynecol., 20, 213216.[CrossRef][ISI][Medline]
Eurenius, K., Axelsson, O., Gallstedt-Fransson, I. and Sjoden, P.O. (1997) Perception of information, expectations and experiences among women and their partners attending a second-trimester routine ultrasound scan. Ultrasound Obstet. Gynecol., 9, 8690.[CrossRef][ISI][Medline]
Fily, R.A. (2000) Obstetrical sonography: the best way to terrify a pregnant woman. J. Ultrasound Med., 19, 15.
Fyro, K. and Bodegard, G. (1987) Four year follow up of psychological reactions to false positive screening tests for congenital hypothyroidism. Acta Paediatr. Scand., 76, 107114.[ISI][Medline]
GeneTestsTM, Childrens Hospital and Regional Medical Centre, Seattle, WA. World Wide Web URL: http://www.genetests.org
Hertling-Schaal, E., Perrotin, F., de Poncheville, L., Lansac, J. and Body, G. (2001) Anxiété maternelle induite par les techniques de diagnostic prénatal: reconnaissance et prise en charge. Gynecol. Obstet. Fertil., 29, 440446.[Medline]
Hobbins, J.C., Bahado-Singh, R.O. and Lezotte, D.C. (2001) The genetic sonogram in screening for Down syndrome: response to the JAMA study. J. Ultrasound Med., 20, 269272.
Markel, H. (1992) The stigma of disease: implications for genetic screening. Am. J. Med., 93, 209215.[ISI][Medline]
Marteau, T.M. (1995) Towards informed decisions about prenatal diagnosis: a review. Prenat. Diagn., 15, 12151226.
Marteau, T.M., Kidd, J., Cooke, R., Johnston, M., Michie, S., Shaw, R.W. and Slack, J. (1988) Screening for Down Syndrome. Br. Med. J., 287, 1469.
Marteau, T.M., Plenicar, M. and Kidd, J. (1993) Obstetricians presenting amniocentesis to pregnant women: practice observed. J. Reprod. Infant Psychol., 11, 310.
McGowan, R. (1999) Beyond the disorder: one parents reflection on genetic counselling. J. Med. Ethics, 25, 195199.[Abstract]
Rogers versus Whitaker (1992) 175 CLR 479.
Savulescu, J. (1994) Rational desires and the limitation of life-sustaining treatment. Bioethics, 8, 191222.[ISI][Medline]
Savulescu, J. and Momeyer, R.W. (1997) Should informed consent be based on rational beliefs? J. Med. Ethics, 23, 282288.[Abstract]
Sepulveda, W. and Lopez-Tenorio, J. (2001) The value of minor ultrasound markers for fetal aneuploidy. Curr. Opin. Obstet. Gynecol., 13, 183191.[CrossRef][ISI][Medline]
Smith-Bindman, R., Hosmer, W., Feldstein, V.A., Deeks, J.J. and Goldberg, J.D. (2001) Second trimester ultrasound to detect fetuses with Down syndrome: a meta-analysis. JAMA, 285, 10441055.
Statham, H., Solomou, W. and Chitty, L. (2000) Prenatal diagnosis of fetal abnormality: psychological effects on women in low-risk pregnancies. Baillieres Best. Pract. Res. Clin. Obstet. Gynecol., 14, 731747.[CrossRef][ISI][Medline]
Thelin, T., McNeil, T.F., Aspogren-Jansson, E. and Sveger, T. (1985) Psychological consequences of neonatal screening for alpha-antitrypsin deficiency. Acta Paediatr. Scand., 74, 787793.[ISI][Medline]
Witters, I., Devriendt, K., Legius, E., Matthijs, G., Van Schoubroeck, D., Van Assche, F.A. and Fryns, J.P. (2002) Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridization (FISH). Prenat. Diagn., 22, 2933.[CrossRef][ISI][Medline]
Submitted on June 27, 2003; accepted on August 5, 2003.