MIDWIVES’ ROLE IN ANTENATAL SCREENING FOR DOWN SYNDROME
MIDWIVES’ ROLE IN ANTENATAL SCREENING
FOR DOWN SYNDROME
This paper discusses debates surrounding antenatal screening for Down syndrome. Specifically, the writer aims to explore the role of midwives in providing comfort to women who need information about the screening. As technology advances, midwives and parents are confronted by moral and ethical concerns. In addition, women are demanding information. With this, midwives take an active role in explaining possible and available choices for parents. This article also recognises the efforts being done by the United Kingdom National Screening Committee in its goal to create standards in antenatal screening for Down syndrome.
This article is divided in three sections. The first section provides a brief overview of antenatal screening and Down screening, in particular. In this section, methods of screening and their costs are discussed. Moral and ethical arguments are also presented. The second section explores the roles and responsibilities of midwives in antenatal screening. This section focuses on issues of providing information that are needed by women. The final section deals with the response of the UK NSC to the growing needs of creating standards of screening, and to the need of training and educating midwives.
Antenatal Screening for Down Syndrome
In the past few years, the advancement of technology, the emergence of revolutionary medicine and the increased understanding of genetics have enabled a growth in the development of antenatal screening techniques. According to the World Health Organization (1985), antenatal screening services are based on population screening to identify people with a genetic risk, or a risk of having a child with a congenital or genetic disorder, in which the major aim is to help and guide enable people to decide upon a course of action that is acceptable for them. Basically, antenatal testing includes the screening for sporadic conditions affecting the fetus; family history for genetic risks; and population screening for carriers of common recessively inherited diseases. It is estimated that within the next 10 to 15 years ante-natal testing will be able to identify over a 100 genetic abnormalities.
Different health authorities in different countries have pointed out various aspects of antenatal screening. In the United Kingdom, the Nuffield Council on Bioethics stresses that, although the primary aim seems to be to improve the health of persons suffering from genetic disorders, the benefits should include enabling individuals to take account of the information for their own lives, and empowering them as prospective parents to make informed choices about having children (WHO, 1985). Although the screening test itself is not usually in diagnostic, it detects a subgroup of those tested who are at higher risk of having the disease or disorder than the original population screened, in many cases it is possible to make diagnoses with considerable accuracy.
In antenatal screening, three different types of methods are widely used: biochemical screening, genetic screening, and ultrasound screening. The first method can be used to detect 60% of pregnancies with Down's Syndrome, 90% of pregnancies with open spina bifida, and virtually all cases of anencephaly (Hoedemaekers, Have & Chadwick, 1991). Biochemical screening tests are used to identify those women who are at high enough risk to justify the hazards and costs of the diagnostic procedures.
On the other hand, genetic screening tests developed by London’s Royal College of Physicians, aim to inform and provide choice to women and couples who are at risk of having children with disabilities and to ensure optimal treatment of affected infants through early diagnosis (Hoedemaekers, Have & Chadwick, 1991). Finally, Ultrasound screening tests are performed to reduce the prenatal mortality and morbidity and to identify a group of babies for whom treatment in utero may be appropriate by defining structural abnormalities. The purpose of the screening is obviously to help those involved to make an informed choice, one which they feel is best for themselves and their families.
It has been argued that the availability of antenatal screening and diagnostic testing has changed the experience of pregnancy. Before the development of antenatal testing for fetal abnormality, the fetus was assumed to be healthy, unless there was evidence to the contrary. The presence of antenatal testing and monitoring shifts the balance towards having to prove the normality of a fetus (Marteau, 1991). Both the medical profession and pregnant women now regard antenatal diagnosis as a necessary part of prenatal care. In April 2001 the Secretary of State for Health announced that antenatal screening for Down syndrome would be available for all pregnant women by 2004 (Public Health Genetics Unit, 2002).
In reviewing current screening practice for Down's syndrome in Britain, Wald, Kennard, Hackshaw, and McGuire (1998) evaluate the effectiveness, safety and cost-effectiveness of the different methods of antenatal screening and diagnosis. Specifically, the authors summarise the expected performance of serum and ultrasound makers for Down's syndrome, and specify the most appropriate method of Down's syndrome screening. In general, Wald et al. (1998) find that serum screening is more cost-effective than screening based on maternal age alone at detection rates of about 50% or greater. As the number of screening markers increases, the cost per pregnancy screened increases but, if an extra marker is sufficiently discriminatory, the cost per Down's syndrome birth avoided may decline.
The authors also find that antenatal screening leads to women having an invasive diagnostic procedure that can result in foetal loss. They noted that, in support to several studies, the anxiety associated with screening is short lived. This anxiety can be minimised by the provision of clear and simple information before screening, together with counselling for women with positive results. Health professionals often do not have adequate knowledge of serum screening and therefore have difficulty in reporting screening results to women.
According to Wald et al. (1998), methods of screening need to be fully evaluated before being introduced into routine clinical practice. This includes choosing markers for which there is sufficient scientific evidence of efficacy, quantifying performance and establishing methods of monitoring performance. Screening services need to be well integrated and managed. Quality assurance and monitoring should be an integral part of a screening service. It is currently not possible to tell whether screening centres undertake epidemiological monitoring and service audit satisfactorily.
The abovementioned objectives and purposes of antenatal screening seem to be designed for the benefit of the general public. However, those who support these goals face moral and ethical issues. Many authorities also express concerns on the techniques that may not necessarily have been developed with the interests of women primarily in mind, nor are necessarily applied to further women's interests (Farrant, 1985).
A document from the Department of Health and Social Services clarifies the attitude about the 'real' aim of these technologies (DHSS, 1977). The document states that caring for the handicapped imposes great burdens on society, therefore, the prevention of handicaps saves money. Although it sounds rational, this kind of rational-economic thinking is degrading to society's willingness to accept and care for abnormal children, while at the same time enlarging the category of unacceptable abnormality and narrowing the range of acceptable normality.
Down syndrome is the most common chromosome birth abnormality. With this, more older women having children the number of Down Syndrome babies conceived is growing. But earlier diagnosis of the condition means there are now more terminations than ever before and the number of babies born with Downs is in decline. According to Aksoy (1998), if Down syndrome is ‘too’ expensive today, what will become ‘too’ expensive if the economic climate becomes gloomy?
In its annual report, the Danish Council of Ethics reports that in 1999, Just under 120,000 fetuses examined. Over 2,200 sick or deviant fetuses in 120,000 fetuses examined were identified and aborted. Moreover, some 1,100 presumably healthy fetuses were died as a side-effect of the examination used (Danish Council of Ethics annual Report, 1999). The report concluded that it is essential to stress that, irrespective of the stance taken on fetal diagnostics, it will be problematic for either one or the other party involved in fetal diagnostics. Further, the report makes it clear that medical practitioners usually focus on the pregnant woman rather than on the fetus when they assess the advantages and disadvantages of antenatal diagnosis.
However, it cannot be denied that antenatal screening tests can be a vital aid in monitoring pregnancies for therapeutic reasons with a view to safe deliveries, and most diagnoses are performed in order to prevent the birth of disabled children. The Royal College of Physicians states that unless prenatal diagnosis is to be devoid of practical application when it reveals a major defect in the fetus, a responsible doctor must discuss with the parents the option of terminating that pregnancy and must in some circumstances provide information that may deter them from further reproduction" (RYP, 1989). The termination of pregnancy and its acceptability is taken elsewhere (Aksoy, 1997), but it is worth mentioning here that it is highly questionable to claim termination of pregnancy as in the child's best interest.
Rothman (1986) maintains that it is the medical profession that has created a need for antenatal diagnosis for 'reassurance' by creating 'genetic anxiety', which capitalises on women's normal fear of having a 'defective', socially unacceptable. However, if there really is a normal fear of having a 'defective', socially unacceptable child, then it is the duty of health care professionals to find a solution.
Midwives in Antenatal Screening
This section of the article aims to raise awareness of the professional and ethical issues surrounding the development and introduction of new antenatal screening and testing procedures, and specifically to discuss the scope of midwifery roles and practice.
The midwives role in antenatal screening programmes has become increasingly complex and challenging. The advancements of maternal screening tests for Down’s syndrome have clearly had an impact on both pregnant women and midwives (Marteau, Slack, Kidd, & Shaw, 1992). Currently, research shows poor levels of understanding from the woman’s point of view and a lack of skills to communicate the information effectively amongst health professionals including midwives (Smith, Slack, Shaw, & Marteau, 1994).
The rapid developments in technology, especially in genetics challenge midwives in keeping abreast of what is available and to remain informed and up to date with the evidence to support the introduction of antenatal screening test. While it is relatively easy for midwives to find out about the techniques involved in carrying out screening procedures, it is more challenging to be knowledgeable enough to discuss options and choices with pregnant women. Many midwives are also challenged by the implications and outcomes of introducing new screening and testing techniques. Where once the focus of medical intervention was seen to be the labour ward, it is now the antenatal clinic.
Midwives as Information Disseminator
Midwives play an important role in antenatal screening and testing; they tend to be the healthcare professionals that come into contact with the woman early in pregnancy. Their initial responsibility is to discuss antenatal screening and testing with women. It is necessary that all midwives need a broad knowledge of antenatal screening issues, while some will become experts in the field because of their area of interest. However, according to Smith, Slack, Shaw, and Marteau (1994), there is some evidence to suggest that midwives lack the knowledge to provide sufficient information, especially when presenting screening tests that are probabilistic rather than categorical results.
According to Wray and Maresh (2000), it is important for the midwives to be clear about what screening is and what it means to a woman and her family before attempting to understand any tests; midwives need to understand the definition, capacity and purpose of screening. For a pregnant woman and her partner, antenatal screening for Down syndrome may be seen as a process that will tell them whether their baby is healthy and normal. And for a midwife, this screening test may or may not detect an increased risk of specific abnormalities in the developing fetus.
In a response to have a standard definition of screening, NSC (2000) provides a definition: “a public health service in which members of a defined population, who do not necessarily perceive they are at risk of, or are already affected by a disease or its complications, are asked questions or offered a test, to identify those individuals who are more likely to be helped than harmed by further tests or treatment to reduce the risk of a disease or its complications.”
The hardest part in disseminating information is rooted to the very complex language related to probability. The decision a couple makes is affected by how people view chance and risk in terms of the perceived benefit of a test will influence. According to Marteau (1995), giving information with complicated terminology requires advanced communication skills and a sensitive approach to the personal beliefs and values of the pregnant woman. Maintaining a balanced dialogue is enhanced when midwives understand the factors that will affect test results.
Another important responsibility of midwives is their need to evaluate research findings and identify their concerns within the multidisciplinary team. This ensures that a systematic review of the evidence has been completed and the principles of screening thought through before new procedures are introduced. Midwives should examine evidence, from professionals’ experiences, of screening tests to inform a strategic implementation that includes adequate staff preparation and continuing education.
Midwives as Counsellors
Counselling is an important role of midwives in making women understand their situation. According to Demirhan-Erdemir (1998), counseling is crucial before and after antenatal screening and testing. Midwives tell the parents that there is no 'right' decision to be made, and it should be made clear that whatever their decision is, it will be supported. Midwives are supposed to inform women of the risks involved to the pregnancy and the possible consequences of dealing with the information the test provides (Abramsky, 1994).
There must be enough well-trained midwives to provide an effective counseling. The units that provide these services must also provide suitable training opportunities and satisfy the expectations of users of antenatal screening services. In counseling, midwives are not supposed to impose their own moral attitudes upon their patients. If medical professionals find themselves disagreeing with the moral stance of their patients over these issues they should explain their situation and advise the patients to consult a clinical geneticist (Gillon, 1988).
Midwives must also have a clear understanding as to what women really want to know. This knowledge will help them in as counseling the latter and in informing women of available choices. There have been many studies carried out suggesting that pregnant women have a poor understanding of the antenatal tests that they have undergone or been offered. In his review of studies on decision-making and prenatal screening, Marteau (1995) finds that 39% of women two days postpartum did not know whether they had undergone serum AFP screening for spina bifida Only one-third of women who were offered serum screening for Down’s syndrome understood that a negative result would not mean that the baby had no problems.
From the relative risks of the screening procedure and the reliability and interpretation of the result, to the challenge of living with a child with disabilities, women want information on a vast range of issues (Marteau, 1995). The giving of information can in itself cause anxiety to pregnant women who face difficult choices in relation to screening tests. Giving no information to women means that they cannot make informed decisions, but the giving of too much over-complicated technical information can be equally disempowering. In a similar study, the Audit Commission (1998) finds that women are dissatisfied with the amount and quality of information given to women.
When asked if they were given enough information about antenatal screening tests, 69% were happy with the spoken information and 60% with the written handouts (AC, 1998). This accounts for the large proportion of women who were not satisfied by the medical staff’s handling of screening. According to a respondent, the medical staff did not have time to explain things like her amniocentesis test. The midwife told her that the doctor would explain the procedure, who in turn felt the midwife should have done this. The respondent was given a leaflet, and it was left to the person operating the scan who was finally able to help her.
This comment presents a picture of a disturbing and worrying situation in which a woman has presented for a test that she does not fully understand. If she does not understand the procedure, if the doctor and the midwife are not able to explain what she test is undergoing, then it is very much likely that she does not fully understand why the test is being carried out. Similarly, when Anderson (1996) asked couples to describe their interpretation of why such tests are offered to pregnant women, many responded by saying that they are ‘medically necessary procedures recommended by the doctor’.
Although it is clear that pregnant women want information, the problem is how best to provide that information. Thornton, Hewison, Lilford, and Vail (1995), examine whether giving extra information in groups, compared with giving information individually, had any effect on uptake of testing, understanding, anxiety levels and satisfaction with the decision made. The authors find that women who were given extra information did have improved understanding of prenatal tests and were more satisfied with the information received. Moreover, the offer of individual information did reduce anxiety later in pregnancy, but group attendance was low. Thornton et al. (1995) conclude that offering healthy people more information did not increase overall anxiety.
The above findings of studies by Marteau (1995), AC (1998), Anderson (1996) and Thornton et al. (1995) show that providing written and verbal information does not generally increase a woman’s anxiety, and that most women want to be given as much information as possible in order that they can make informed decisions.
Wray (2002) conducted a study on the views and perceptions of midwives about their role in the screening programme for Down’s syndrome. The author’s qualitative research study seeks to understand how midwives feel about their roles in relation to antenatal screening, particularly in maternal screening for Down’s syndrome. The result of the study suggests that for midwives, discussions with women in the early part of pregnancy around Down’s syndrome challenged them professionally, morally and personally. Essentially three major themes emerged in the study; information giving and communication, training issues and professional values. Wray (2002) finds a number of barriers, including lack of communication skills and organisational constraints, along with ‘unwelcome interference’ from the medical profession and interpreters were perceived to further complicate this aspect of care.
The findings of Wray’s (2002) prompted midwives who participated in the study to express a desire to collaborate more closely with the interpreter service particularly around information giving. Another important outcome of the study is that the organisational aspects of screening and the training dimensions are being addressed.
The UK National Screening Committee
The purpose of this section is to provide a summary of the current national activities in relation to antenatal screening for Down syndrome, pending the UK National Screening Committee’s (NSC) national guidance on policy and quality management. After each item, information is available on how to obtain further information. NSC assesses proposed new screening programmes against a set of internationally recognised criteria covering the condition, the test, the treatment options and effectiveness and acceptability of the screening programme. Assessing programmes in this way is intended to ensure that they do more good than harm at a reasonable cost. The NSC considers the aim of all antenatal screening to be informed choice for parents.
The Antenatal Subgroup of the NSC, in preparation for its introduction of the national screening programme, is undertaking a consultation on draft standards both for antenatal screening in general, specifically for Down syndrome screening (Public Health Genetics Unit, 2002). The draft standards is divided into several sections such as policy, education and training, clinical arrangements, laboratory and ultrasound standards for Down syndrome screening, information and support, and audit and monitoring. The screening committee proposed that national guidance should govern formulation of policies for antenatal screening at a regional and local level. Defining "local" as an area the size of a Strategic Health Authority or Regional Government Office area, each local area or Trust should have a dedicated screening coordinator and a named obstetrician with responsibility for antenatal screening.
The committee proposed that all staff involved in delivering antenatal screening should receive documented training and an annual refresher session. Down syndrome serum screening should be performed only by CPA accredited laboratories and should use a minimum of two biochemical markers to achieve at least a 60% detection rate for a 5% false positive rate.
In its consultation, the committee sets out standards for ultrasound dating scans in relation to Down syndrome screening. These include the reporting of serum screening results to women within three working days; and risk of greater than one in 250 as the cut-off point for an offer of invasive prenatal diagnosis, which should be available within five working days of the serum screening result. In addition, the committee also proposed standards for the provision of information and support to women and their partners.
In 2001, a survey was undertaken in order to assess the availability of Down syndrome screening to women and to identify gaps to direct future work (Royal College of Obstetricians and Gynaecologists, 2004). The result of the survey shows that 27% offered no service or an age-restricted service to pregnant women. Of those offering a service: 15% offered NT screening service, only 72% offered a serum screening service, and only 13% offered a combination of NT and serum screening. Of those offering NT: 91% performed an annual audit of sonographers, 76% followed up the outcome of high-risk pregnancies, 54% provided a detection rate, 63% provided a false positive rate, and 13% did not perform a dating scan prior to serum screening.
As there are currently significant regional variations in the provision of screening for Down syndrome, NSC has developed proposals ensuring that a service based on second trimester serum screening was offered nationally to all pregnant women (NSC, 2004). This enables for the identification of women whose risk of having a child with Down syndrome is greater than 1 in 250. Although this is not totally conclusive, women with positive test results would be offered an amniocentesis test to clarify the result.
Although screening has the potential to save lives through early diagnosis of serious conditions, NSC (2004) concedes that it is not a fool-proof process. The committee states that screening can identify the risk of developing a condition or its complications but it cannot offer a guarantee of protection. This limitation is attributed to the inability of any screening programme to reduce minimum of false positive results, or those wrongly reported as having the condition, and false negative results or those wrongly reported as not having the condition.
NSC primarily aims to help parents to make informed choices such as undergoing diagnostic testing, continuing with the pregnancy or deciding to end it. This decision should be made when the best interests of those involved in antenatal screening tests have all been considered. Some will decide to end the pregnancy and others will continue possibly giving birth to a child with Down syndrome. Parents, especially women should receive full counselling and support at that very stressful time. This might include referral to appropriate support groups.
According to NSC, they do not intend to discriminate those with disabilities but to promote choice for families (NSC, 2004). This service would be more equitable, reach a higher quality through national standards and strengthen the access to appropriate counselling that parents need to help them reach a difficult decision. NSC also proposes the provision of training to improve the technical knowledge of medical practitioners, and communication and counselling skills of midwives.
Although there are different views in the wide bioethics community, antenatal screening and antenatal diagnosis are new technologies developed to contribute to our happiness and welfare, but like many other new technologies, they are accompanied by new moral controversies. It is not proper to conclude that antenatal screening is good, or is evil. Deciding on this issue is firmly attached to a number of ethical dilemmas at the heart of which is the moral status of the prenate. So, deciding the issue is dependent upon the views of the person, and a case-by-case approach can be suggested. If any embryological stage is defined as the beginning of a human individual, only testing but not termination may be allowed.
Exploring the relationship between midwives’ knowledge of and their understanding of women, and the ability to give information to them, this article finds that midwives are an important agent in enabling women undergoing antenatal screening to fully understand their crucial situation. This article has emphasized the roles midwives play, by stressing the vital significance of providing the parents with good counseling before and after the antenatal screening for Down syndrome.
Finally, as antenatal screening techniques for Down syndrome are developing at a very fast pace, this article suggests supportive continuing education programmes in improving the situation. Midwives should acquire not only the knowledge, but also the skills in being able to discuss uncertainty with those involved in antenatal screening for Down syndrome. As for the moral and ethical debates, midwives should only provide an effective and a good counseling, and to inform and enable parental understanding and choices with respect to their unborn child. They must be aware that they should not impose their own beliefs upon the parents.
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