Social implications of prenatal cytogenetic diagnosis
Social implications of prenatal cytogenetic diagnosis
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产前细胞遗传学诊断的社会影响
DOI：
10.5694/j.1326-5377.1985.tb122794.x
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发表时间：
1985
影响因子：
11.4
通讯作者：
L. Poidevin
中科院分区：
文献类型：
--
作者：
L. Poidevin
产前基因诊断 遗传疾病的产前诊断提出了复杂的法律和社会问题，这些问题是 Belland Pearn（第 76 页）以及 Gerber、Pearn 和 Bell（第 79 页）及时发表的论文的主题。当绒毛膜绒毛取样（CVS）的影响在澳大利亚产科实践中逐步转化为现实时，这些问题以及成本效益、可用性和适应症等相关问题将成为更加引人注目的焦点。两个中心最近发表了该程序的初步报告，“并且技术和医学方面已在该杂志的一篇主要文章中进行了审查。”一般而言，通过 CVS 进行早期宫内遗传异常诊断在后勤上具有吸引力的可能性也将引发超出目前在该国实行的涉及羊膜穿刺术和妊娠早期堕胎的问题。例如，毫无疑问，支持性别选择的压力将会出现，特别是在我们社区的某些种族群体中。虽然希望大多数负责任的医生对此概念感到厌恶，但它很可能以社会要求堕胎的幌子出现。这个问题已经在意大利出现，CVS 的许多早期数据都源自意大利。因此，Simoni 等人在概述一系列要求 CVS 的患者时，描述了一对夫妇，他们有 3 个女儿，他们寻求终止随后的妊娠，其概念是女性。 CVS 分析显示染色体核型为女性，但父母最终决定不堕胎，可能是因为他们甚至在诊断的孕龄早期（10 周）就已经“识别”了潜在的后代。这个例子强调了如果通过堕胎选择孩子性别作为 CVS 免费基因诊断的延伸的可能性甚至成为理论上的可能性，那么患者及其医务人员（更不用说未出生的孩子！）将面临复杂的问题。提议制定立法禁止披露产前诊断的胎儿性别直到怀孕后期，这很诱人，但几乎肯定不现实，除非出于明确的目的，例如识别与性有关的疾病。用于检测通过 CVS 获得的细胞中的疾病位点和单倍型的遗传探针的可用性不断增加，这将不可避免地能够准确识别受孕体遗传组成的父系起源。在可能发生婚外受孕并且堕胎请求必须得到确认的情况下，这将引发巨大的社会和道德问题。那么，谁将决定是否应该向声称婚外受孕（或者可能是强奸且不希望警察介入）并希望确认亲子关系作为可能堕胎依据的患者提供 CVS？ CVS 的可用性引发了一个更容易识别的难题，该难题涉及胎儿异常低风险类别的患者，他们希望确保其胎儿染色体正常。此类患者的数量可能会越来越多，尽管试图向他们提供与堕胎手术相关的相对风险的咨询，但仍坚持进行产前基因诊断。羊膜穿刺术和晚期流产带来的心理和机械抑制将被方便的 CVS 和妊娠早期真空终止妊娠所取代。如果这样的请求被拒绝，患者和她的医生将会得到什么安慰，事实上，也许在不远的将来，如果随后生出染色体异常的婴儿，将遵循哪些法律条件？产前基因诊断的现成性和扩展范围还有其他更微妙的影响。考虑通过基因探针和 CVS 在子宫内诊断亨廷顿病的潜在能力。因此，如果产前诊断发现可能受影响的后代，则可能必须告知高危胎儿的明显未受影响的父母之一或其他父母其症状前的疾病状态。这个问题必须由医生和父母共同面对，因为拒绝这样做就是对基因注定的后代和家族后代的不负责任。显然，CVS 和分子遗传学新技术的出现将提高卫生专业人员的重大责任，为寻求产前诊断的夫妇合理选择和提供咨询，无论这些夫妇的恐惧是真实的还是想象的。 WARREN R. JONES 弗林德斯医疗中心妇产科教授
Prenatal genetic diagnosis T he prenatal diagnosis of genetic disorders raises complex legal and social questions which are the subject of timely papers by Belland Pearn (page 76), and Gerber, Pearn and Bell (page 79). These questions, and the related problems of costeffectiveness, availability and indications, will come into even sharper focus when the implications of chorionic villous sampling (CVS) are translated progressively into reality in Australian obstetric practice. Preliminary reports of this procedure have been published recently from two centres,':' and the technical and medical aspects have been reviewed in a leading article in the Journal.' In general terms, the logistically attractive possibilityof the early intrauterine diagnosis of genetic abnormalities by CVS will also raise issues which extend beyond those that involve amniocentesis and late first-trimester abortion as are currently practised in this country. For example, there is little doubt that pressures in favour of sex selection will arise, particularly among certain ethnic groups in our community. While it is to be hoped that this concept is anathema to the majority of responsible medical practitioners, it is likely to present itself in the guise of social requests for abortion. The problem has already surfaced in Italy, from where much of the early data on CVS are derived. Thus Simoni et aI., in outlining a series of patients who requested CVS, describea couple, with three female children, who sought termination of a subsequent pregnancy were the conceptus to be a female.' Analysis of the CVS showed a female karyotype, but the parents eventually decided against abortion, possibly because they had already "identified" with their potential offspring even at the early gestational age (10 weeks) at which the diagnosis was made. This example serves to highlight the complex problems that are faced by the patients and by their medical attendants (not to mention the unborn child!) should the potential for the selection of the sex of a child by abortion as an extension of freely available genetic diagnosis by CVS become even a theoretical possibility. It is tempting, but almost certainly unrealistic, to propose that legislation might be formulated to prohibit the disclosure of the prenatally diagnosed sex of a fetus until late in pregnancy unless it is required for defined purposes, such as the identification of sex-linked diseases. The escalating availability of genetic probes for the detection of disease loci and haplotypes in cells that have been obtained by CVS will inevitably enable the accurate identification of the paternal origin of the genetic composition of the conceptus. This will raise enormous social and ethical problems in a situation where an extra-marital conception may have occurred and a request for abortion would rest on its confirmation. Who, then, will determine whether CVS should be offered to a patient who claims extra-marital conception (or perhaps rape and does not wish to involve the police) and wants to confirm paternity as a basis for possible abortion? A more readily identifiable conundrum that is raised by the availability of CVS relates to patients in the low-risk category for fetal abnormality who wish to obtain reassurance that their fetus will be chromosomally normal. Such patients may present themselves in increasing numbers, insisting on prenatal genetic diagnosis despite attempts to counsel them on the comparative risks of abortion that are related to the procedure. The psychological and mechanical inhibitions that are posed by amniocentesis and late abortion will have been replaced by the logistic ease of CVS and first-trimester vacuum termination. If such requests are refused, what comfort willbe available to the patient and her doctor, and, indeed, perhaps in the not-too-distant future, what legal conditions will prevail, should a chromosomally abnormal infant subsequently be delivered? There are other, and more subtle, ramifications of the ready availability and extended spectrum of prenatal genetic diagnosis. Consider the potential capability to diagnose Huntington's disease in utero by means of genetic probes and CVS. Thus one or other of the apparently unaffected parents of an at-risk fetus may have to be informed of their pre-symptomatic disease state should prenatal diagnosis identify a potentially affected offspring. This problem must be faced by both the doctor and the parents because refusal to do so would be irresponsible to the genetically doomed offspring and to future generations in the family line. Clearly, the advent of CVS and the newer techniques in molecular genetics will raise heavy responsibilities for health professionals in the rational selection of, and provision of, counselling for couples who seek prenatal diagnosis, however real or imagined the fears of those couples may be. WARREN R. JONES Professor of Obstetrics and Gynaecology Flinders Medical Centre