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Preimplantation genetic diagnosis: a step by step guide to recent Italian ethical and legislative troubles
  1. E Turillazzi,
  2. V Fineschi
  1. Department of Legal Medicine, University of Foggia, Foggia, Italy
  1. Professor V Fineschi, Department of Legal Medicine, University of Foggia, Via Colonnello D’Avanzo, 1. 71100 Foggia. Italy; vfinesc{at}


Objective: To analyse legislation and medical professionals’ position concerning the doctor’s role in assisted reproduction techniques in Italy, and to discuss the implications for physicians of preimplantation genetic diagnosis (PGD).

Background: Until recently a strict interpretation of the assisted reproduction law (40/2004) and the guidelines subsequently issued, lead to denying infertile couples affected by genetic diseases the right to resort to PGD. In October 2006 the Constitutional Court ruled regarding the question of the constitutional legitimacy of the prohibition of PGD.

Discussion: The Constitutional Court declared the manifest inadmissibility of the question of the constitutional legitimacy of article 13 of law 40/2004. The debate has become very animated since the ruling. After the negative sentence of the Constitutional Court, three further sentences recognised the right of couples to obtain PGD, representing a hard blow to law 40/2004 and to the ministerial guidelines; a further confirmation of the untenability of a law that violates fundamental principles such as the right to healthcare for women and the unborn child, the right to responsible motherhood and to informed consent.

Conclusion: It seems that in Italy the legislative inadequacy for medically assisted procreation is reprieved by the courageous decisions of the judges, which refer to the values of the Italian Constitution, in defence of the fundamental rights of the citizens.

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The long history of preimplantation genetic diagnosis (PGD) in Italy seems to be heading towards a resolution. Until recently a strict interpretation of the law regarding assisted reproduction (law 40/2004) and of the guidelines subsequently issued by the Ministry of Health had lead to denying infertile couples affected by genetic diseases the right to resort to PGD.

In October 2006 the Constitutional Court ruled regarding the constitutional legitimacy of the prohibition of using PGD, present in the law 40/2004. During the civil proceeding brought by a couple undergoing medically assisted reproduction, who asked that their right to obtain preimplantation diagnosis on the embryo to be recognised, the Court of Cagliari raised the question of the constitutional legitimacy of article 13 of law 40/2004. This article does not allow the use of PGD to ascertain whether embryos are affected by genetic diseases of which the potential parents are carriers, when the omission of this diagnosis implies a proven, serious and actual danger for the physical and mental health of the woman. The couple explained that they had already resorted to assisted reproductive procedure, following which the woman had got pregnant, then terminated for therapeutic reasons once it had been ascertained that the fetus was affected by β-thalassaemia. The termination of the pregnancy caused the woman to develop a depressive-anxiety syndrome. For this reason, at the time of the second IVF, the couple had asked the consultant of the regional hospital for microcythemias—PGD on the formed embryo—refusing the implant until the diagnosis had been effected. The physician had refused, appealing to article 13 of law 40/2004, which allows only diagnostic and therapeutic interventions on the embryo aiming to protect its health and development. The couple appealed to the judge to enforce their right to obtain the diagnosis. The Court raised the question of the constitutional legitimacy of the prohibition of PGD which involves the danger of violation of the woman’s right to healthcare, contradicting the principles of the Italian Constitution.

The arguments of the Constitutional Court raised lively comments in the Italian juridical and medical communities. The Court’s decision has been judged as a strongly political choice; some talked even of “rescue” and “blessing” of the law by the Constitutional Court. The supporters of the law have applauded the attempt of the Court to rescue a law which seems to reflect the Italians’ widely shared sentiment. It has been countered by others that a political judgement has been expressed and that the Court placed itself in defence of a law which is manifestly against the right to health of the woman and which does not recognise the rights of infertile couples.


In Italy, the debate became very animated after the ruling of the Constitutional Court, which showed how the Court’s decision highlighted the situation which had established itself since the law was enacted.1 2 Thus the groundwork was in place for the deep troubles that occurred soon afterwards. After the negative sentence of the Constitutional Court, the couple took a new proceeding to the Court of Cagliari to obtain the right to PGD, as both subjects are affected by β-thalassaemia. In September 2007 the Court of Cagliari recognised the right of the couple to obtain the requested diagnosis and has obliged the hospital to perform PGD on the embryo, destined to be transferred to the woman’s uterus, in order to verify its state of health. The decision of the Court of Cagliari is based on the dismissal of the restrictive interpretation of the law 40/2004, according to which the illegitimacy of PGD would derive from article 13 of the law, further confirmed by the guidelines issued by the Ministry of Health. The Cagliari Judge believed that the arguments underlying such restrictive interpretation could not be subscribed to and preferred instead a reading of the rule that recognises the feasibility of PGD when it satisfies the following characteristics: (1) it has been requested by the subjects admitted to medically assisted reproductive procedures; (2) the embryos destined to be implanted into the mother’s uterus are available for testing (but excludes testing on cryopreserved embryos waiting for extinction); (3) it is to test for possible diseases of the embryo, to guarantee adequate information on the state of health of the embryos that are to be implanted for couples who have had legitimate access to medically assisted reproductive techniques.

Article 6 of the law 40/2004 establishes that the physician must inform the subjects in detail “about the possible physical and psychological collateral effects ensuing from the application of the techniques, about their probabilities of success and about the risks deriving from them”. The subsequent article 14 of the law provides for the right to be informed about the number and, on explicit request, “about the state of health of the produced embryos which are to be transferred to the uterus”. The Cagliari Judge states that “denying the admissibility of PGD would therefore mean it to be impossible to provide adequate information about the medical treatment which is to be performed. Information which is indispensable both in the prospect of a fully aware pregnancy, allowing the parents to psychologically prepare themselves to face possible health problems of their future child, and in order to protect the health of the pregnant woman”. The same law recognised the right/duty of the physician to refuse to proceed further in the process of assisted reproduction, and thus possibly also to refuse to proceed with the implantation, when serious consequences for the health of the pregnant woman might derive from the same process. In conclusion, the Judge affirms the full legitimacy of PGD.

In December 2007 a new ruling continued the work of dismantling the law; a judge from Florence declared the legitimacy of performing tests on embryos that are to be implanted if there is the risk of transmitting a serious genetic disease. This was the case of a couple in which the woman was a carrier of exostosis, a disease at high risk of transmission to the foetus. The Florentine judge upheld the appeal of the couple against the decision of a centre for assisted reproduction which, literally following the law, would not perform tests on the embryos to avoid the risk of transmitting the disease. In so doing the judge has admitted the legitimacy of PGD. The ruling is not revocable and therefore if it is not appealed, will become enforceable.

In January 2008 the regional Administrative Tribunal of Lazio issued a ruling which once again refers the Constitutional Court to the part of law 40/2004 that limits the number of producible embryos to three. It negates the ministerial guidelines, according to which, the preimplantion investigations on the health of the embryos must be limited to mere observation.

In conclusion, it seems that in Italy the inadequate legislation on medically assisted procreation has been reversed by the courageous decisions of the judges, which refer to the values of the Constitution, in defence of the fundamental rights of the citizens, and in response to their new values.


On 24 April 2007 the Ministry of Health requested a ruling by the Superior Council for Public Healthcare on a possible update of law 40/2004. The ad hoc working team thus created took into consideration a particular aspect of the law concerning the criteria of access to these techniques. The criteria state that these techniques should only be resorted to “when it is ascertained that it is impossible to treat the causes that prevent reproduction in any other way and is limited to cases of unexplained, medically documented, infertility or sterility, as well as to cases of infertility or sterility for an ascertained and medically certified cause”. However, for couples in which the man is affected by sexually transmissible viral diseases, in particular HIV, HBV and HCV infections, the high risk of infection for the mother and the foetus represents an objective cause preventing procreation, requiring the adoption of precautions which necessarily translate into a condition of infertility; the experts believe that these conditions fall into the category of ascertained infertility with medically certified cause provided by article 4, Ministerial Decree 21 July 2004. Therefore, the presence in the man of sexually transmissible diseases is assimilated into a condition of sterility such as to guarantee access to assisted reproductive techniques. But, why not extend this right to the carrier, man or woman, of a genetic disease? What is the scientific motive for not allowing access to these techniques to the carriers of genetic diseases?

This is a contradiction which does not have any scientific foundation, made more ambiguous by these statements in the guidelines: “to guarantee to the couples the equity of access” and “to respect the principles of constitutional safeguard of women” and by the recognition of sterility as a medical condition.


The two sentences of the Courts of Cagliari and Florence express the necessity of a reconsideration of PGD, inspired not by prejudiced bans but by a technical and scientific knowledge of the terms of the question.

The applications of PGD, for traditional prenatal diagnosis in couples at risk of transmitting genetic diseases37 and those undergoing medically assisted reproduction, are numerous and have greatly expanded to include the diagnosis of low penetration genetic diseases, late onset disorders with genetic basis or predisposition and the HLA typing of the embryo for tissue donation. Currently PGD is viable and used to diagnose more than 100 genetic abnormalities. Moreover PGD seems to have interesting applications in programmes of assisted reproduction to test for aneuploidy, especially in patients of advanced reproductive age undergoing IVF.8 Finally, a recent challenge for PGD is represented by the possibility of screening embryos that are free from cancer-predisposing gene mutations in families with inherited susceptibility to cancer.9 10

These are the present and future applications of PGD which can be realised by means of various technologies, each presenting its advantages and disadvantages and whose choice must be entrusted to the discretion of the physician on the basis of precise clinical information.11 The recommendation from the specialised literature is that each one of the different methodological approaches for PGD, between them often complementary, should be available for an accurate as possible diagnosis.3

Applications of PGD in other countries

At an international level, PGD is widely practiced and accepted1214 even if countries have adopted very different legal approaches to the regulation of PGD as well as to the jurisdiction of authority, the nature of enforcement and other particulars. Some have enacted very restrictive laws (eg, Austria, Germany and Switzerland), some have adopted middle course regulation (eg, Canada, Denmark, Finland, France, The Netherlands and the UK) and some have rather permissive laws or no legal regulation at all, but PGD issues are regulated by professional standards (eg, the USA). Most of these countries have specific mechanisms to control the application for which PGD is used and PGD is usually subject to an approval or a licence by a specific authority.15

Ethical controversies of PGD

Only in keeping this kind of interpretation will it be possible to examine the question of the “acceptability” of PGD in Italy too. We are aware that PGD is part of a complex debate on genetics and the use of genetic information. Applications of PGD may sometimes raise controversial “ethical” problems. For example, the possibility offered, and obtainable by means of PGD, of conceiving healthy children to save the life of another diseased child (“saviour sibling”). This application of PGD has recently been authorised in Spain, and it will be possible to use these techniques in exceptional cases when an alternative cure of the serious disease does not exist and after each single case has been examined by the Commission for Assisted Reproduction. The Human Fertilisation and Embryology Authority in the UK also recently granted this application of PGD. However, many doubts still remain that animate the ethical debate concerning this particular application of PGD.1618 Even more controversial is the use of PGD to satisfy requests which totally lack any substantial clinical premise, such as gender selection or “positive traits” selection. The case of the deaf lesbian couple,19 20 who asked for one of the women to be artificially inseminated with sperm selected from a donor presenting the inherited trait for deafness, has had a wide and sensational resonance in the media. Also the use of PGD to achieve outcomes that, commonly, are not socially preferred inevitably raises ethical questions.21

Undoubtedly, the “ethical” implications of PGD attract profound attention in a debate which enriches itself of ever more fertile contributions underlying the extremes of the question: from the advantages of preventive medicine to the risk of genetic discrimination and of a “disgenetic” drift.

The widespread, perceived fear is that it could be used to select genetic traits desired by the parents.

We believe that the parallelism between the different options offered by PGD is absolutely improper. We think that it is necessary to distinguish between the so called “negative eugenics” and the one defined as “positive eugenics”. The first is aimed at helping individuals and their families to avoid genetically determined diseases, while the second is directed at modifying or selecting the genetic inheritance of a human being in order to “improve” his characteristics or to render him correspondent to the desired qualities (sex, specific somatic features, etc).

From the standpoint of ethical speculation, there are two main points of discussion: (1) diagnosis and genetic selection in order to avoid serious and potentially fatal (or seriously disabling) genetically determined diseases, and (2) the selection of phenotypic traits which are considered desirable by the parental couple.


There is such a richness of the debate on PGD, such a wideness and diversity of its possible applications, which include conditions that cannot be compared or referred to as a single category (diagnosis of β-thalassaemia and selection of eye colour, just to make a provocative example) that we cannot but remain confounded by the law 40/2004 and the guidelines issued afterwards.

Moreover, we want to highlight the evident incoherencies of the law 40/2004. From a direct reading of the law, it is possible to offer a couple undergoing fertility treatment information about the state of health of the embryos, and to therefore effect clinical and experimental research with diagnostic and therapeutic aims, albeit conditioned to the protection of the health and of the development of the embryo itself. What is the purpose of informing the parents about the health of the embryo or about the presence of a disease of the embryo if the information remains an end in itself? This point is of extreme importance and therefore, if the right to be informed has been expressly provided by the law and confirmed by the ministerial guidelines, it must have some usefulness: that is, it must be possible for the couple to make new decisions on the basis of the information received. Article 13 allows experimental research for diagnostic and clinical purposes; allowing the research on embryos for diagnostic purposes actually means allowing PGD. It has been objected that it would be allowed for therapeutic purpose, but this argument does not appear convincing. It is possible that a disease which can be treated with therapeutic interventions may be revealed by the diagnostic investigation, but there is also the possibility that an incurable disease may emerge. In the latter case, once PGD has been allowed, it is not possible to believe that the mother could not take into consideration its result.

In a matter in which it is difficult to separate the technical judgement from ideology, the risk was of indulging in considerations of an ideological kind.22 The decision by the Italian legislator to exclude PGD from the field of application of medically assisted reproduction programmes cannot be subscribed to at all, given the wide field of its applications and the diversity of its aims and purposes.

It is worth underlining the evident contradiction of the Italian system in the matter of procreation once more. Article 4 of the law 194/1978 on voluntary interruption of pregnancy, provides that “anomalies or malformations of the foetus” might be deemed valid reasons to interrupt pregnancy in the first 90 days. Voluntary interruption of pregnancy after the first 90 days, can be effected when serious diseases or conditions are ascertained, including important anomalies or malformations of the unborn child, which may constitute a serious threat on the physical or mental health of the woman.

It is clear that Italian law allows the woman to make abortive choices of a broadly “eugenic” kind, that is, with the purpose of avoiding the birth of carriers of genetic traits which are not desired, even if “hidden” under the label of protection of the health of the same woman. On the other hand, the law 40/2004 creates a paradoxical solution, according to which, given the impossibility of selecting embryos, the woman is forced to receive all the produced embryos, notwithstanding their genetic characteristics, even if she can interrupt pregnancy in cases of malformations or anomalies also of a genetic kind.

And this situation can no longer be “hypocritically” ignored.


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  • Competing interests: None declared.