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Crafting perfect children

With technologies for pre-natal diagnosis becoming more accurate and less invasive, it is likely that there will be greater social pressure on women to produce ‘perfect’ babies, greater social endorsement of termination of pregnancies with foetal abnormalities, and even less societal tolerance of disabilities than at present. It is time, say Anoop Kumar Thekkuveettil, Mala Ramanathan and Harikrishnan S, that both service providers and pregnant women began to discuss the ethical dilemmas raised by these diagnostic technologies

As technology for pre-natal diagnosis improves, as it becomes more accurate and less invasive, it is possible that the attitude of medical professionals towards the choices that women make -- particularly reproductive choices to either terminate or continue a pregnancy -- will undergo subtle changes. The current practice seems to be to offer non-invasive pre-natal diagnosis for those women who have a family history of genetic diseases or are of high maternal age, and prepare them for a high-risk pregnancy. There is not much reason yet to think that this has become the norm for all pregnancies. Pre-natal testing is usually a multi-step process involving screening for chromosomal aberrations, biochemical tests and ultrasound. An alternative is to test for a specific gene mutation to learn the parents’ carrier status of certain diseases, including cystic fibrosis, Duchenne muscular dystrophy, etc. Women with a positive diagnosis on this test will have to go through more invasive tests like amniocentesis or chorionic villus sampling (CVS), both of which carry higher risks for the foetus and also enhance the chances of maternal complications.

The discovery that there are detectable amounts of cell-free foetal DNA (ffDNA) and RNA (ffRNA) in maternal blood changes the science of pre-natal diagnosis dramatically. It is now possible to do an array of tests on the foetus’ health and genetic makeup without using invasive approaches. ffDNA will allow a mutational analysis of genes, and ffRNA gives information on variations in gene expressions in comparison to the ‘normal’ foetus. The implications of changes in technology for reproductive choices must be discussed for the ethical dilemmas these technologies pose both for providers and for pregnant women.

Adrienne Asch, in her seminal article in the American Journal of Public Health (‘Pre-natal Diagnosis and Selective Abortion: A Challenge to Practice and Policy’, AJPH, November 1999), states: “Professionals should re-examine negative assumptions about the quality of life with pre-natally detectable impairments and should reform clinical practice and public policy to improve informed decision-making and genuine reproductive choice.” Developing spaces for such a discussion is becoming increasingly difficult in a system where pre-natal diagnosis is seen as mandatory so that families do not have the burden of disability and of the healthcare expenses associated with it. As these modern diagnostic techniques become more and more accurate, the “social endorsement” to terminate pregnancy on detection of foetal disability may serve to diminish women’s choices.

On the one hand, choices do increase because women have better information to weigh the positive and negative sides of their decisions. Alternatively, choices get restricted because societies and women themselves will find it difficult to forgive women who opted to have a baby with disabilities having prior information of the disability -- as well as women who chose medical termination.

Technologies for pre-natal diagnosis are becoming more accurate and less invasive. For example, the nuchal ultrasound scan can predict Down’s Syndrome in the first trimester, whereas the earlier ultrasound methods could detect disease only in the second trimester. Besides routine non-invasive techniques like blood tests and sonograms, and invasive amniocentesis and CVS, techniques such as pre-implantation genetic diagnosis (PGD) are recommended in many developed countries. PGD is done on embryos grown in-vitro and allows the detection of genetic disorders before implantation of the embryo. In 2007, The American College of Obstetricians and Gynaecologists recommended Down’s Syndrome screening for all pregnant women regardless of their age (the risk of Down’s Syndrome increases with age, especially above 35). Such recommendations indicate that there is great demand in society for healthy babies. At present, more than 350 genetic diseases can be detected using various techniques, and this number will increase with the advent of the human genome project and the use of single nucleotide polymorphism studies. As genetic counselling and pre-natal diagnosis become common in India, as evidenced by the increase in the number of centres offering screening and counselling services, it is possible that there will be pressure on women to produce ‘perfect’ babies -- just as there was pressure to produce boy babies after the availability of technology to detect the sex of the foetus.

Historically, human society has looked for healthy individuals who contribute to the economy. From this perspective, people who are unable to work effectively are viewed as wasted resources. Such a view of human capital can result in low tolerance for those less able to contribute. For example, an analysis on social reasons for the genocide of the Jews in Europe in the middle of the last century (A N Sofair and L C Kaldjian, ‘Eugenic Sterilisation and a Qualified Nazi Analogy: The United States and Germany, 1930-1945’, Annals of Internal Medicine, 2000) indicated that the prevailing laws created a view that certain people were not productive and therefore a burden to society. German laws before World War II allowed for the sterilisation of people viewed as unproductive. This law also allowed for the ‘euthanasia’ of certain groups considered disabled. Such perspectives continue to be reflected in the views of industrialised societies today on homeless people. Whenever people do not have a strong voice, society’s dominance over them is visible. This has been true for women, gays and the current debate on children with disabilities.

To an extent, as Adrienne Asch has pointed out, public health experts also moulded this view on diseases and the need to eradicate them. This perspective continues to prevail when we deal with non-communicable diseases or the uncertainties that surround pre-natal diagnostics for foetal genetic disorders. Public health practice in general is largely informed by utilitarian principles of the greatest good for the greatest number, and therefore accepts disregard for individual rights, including those for reproductive autonomy for women.

It is essential to discuss issues related to reproductive rights as well as societies’ outlook on what a person should be. Women often face pressures both from clinically driven choices dictated by medical professionals and socially driven choices dictated by families. In Indian society, tolerance for disability is low, not only because it affects a human being’s functioning but also because of the high familial costs involved in the management of such disabilities since there is very little societal provisioning for this. In addition, while public policy on disability calls for making every public structure disability-friendly, this is not prioritised in fund allocations or new constructions. So, as a whole, physical spaces are unfriendly to differently-abled populations.

There can be both direct and indirect pressures on women, depending on their situation, to restrict their choices, whatever they might be. This can be in terms of urging MTP for those whose financial resources cannot go through the gamut of genetic testing for a confirmatory diagnosisafter initiating pre-natal screening. It is possible to evaluate the foetus for the presence of structural heart disease very early, in the first trimester itself. If the foetus is found to have a major cardiac anomaly (for example, it has only two or three heart chambers instead of the normal four), the prognosis for the newborn is very poor. The child may require multiple major cardiac surgeries, which are costly and available in few metros in India. Even after such surgeries, the child will have disabilities. In such cases, MTPs are recommended by medical practitioners.

On the other hand, pre-natal screening tests can also facilitate making such a choice and enhancing choices for women who have the financial means to go through the battery of tests needed for a confirmatory diagnosis.

This only serves to highlight the inequities existing in society with regard to access to healthcare and diagnostic facilities. Alternatively, there could be counselling for testing, and appropriate mechanisms and sites of delivery where the pregnancy and the outcome can be managed effectively to reduce potential problems. For example, if a cardiac anomaly is detected, delivery can occur in a centre where cardiac care facilities are available. This could save the life of the infant. Pre-natal echocardiographic evaluation, also called foetal echocardiography, is a simple and safe tool to evaluate the foetal heart. It is not very expensive but it is not universally available and the expertise to conduct it is limited. This again, without societal provisioning, will not only serve to widen existing equity gaps but also result in labelling women who choose a less orthodox option as deviant in their reproductive choices.

There are two arguments that justify the relevance of genetic testing and pre-natal diagnosis in India. The first uses the argument that scientific developments need to be harnessed for the wellbeing of populations, and wellbeing means having populations that are less affected by genetic conditions that are disabling. The second is that declining fertility underscores the need for better reproductive choices for women. Since society calls for crafting children that are acceptable in the labour markets, there is a need for creating perfect or efficient babies who can take their place in the family and the labour market with enhanced values. In either of these cases, the tolerance for any form of disability is limited and will be linked to the ability to overcome it through either social or economic might. This could again serve to widen existing inequalities.

There is therefore a need to carefully evaluate emerging technologies for the ethical dilemmas that may emerge, or the potential to vitiate existing inequalities. There must be discussion and regulation of these technologies as their use increases across the country.

(Anoop Kumar Thekkuveettil is a molecular biologist with training in research ethics at the Sree Chitra Institute of Medical Science and Research (SCTIMST), Thiruvananthapuram. Mala Ramanathan works on gender, demography and research ethics at the Achutha Menon Centre for Health Science Studies, SCTIMST. Harikrishnan S is a clinical cardiologist and community-based researcher on cardiovascular disease, SCTIMST)

Infochange News & Features, December 2010