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Preimplantation diagnosis (PID) comprises all the relevant diagnostic procedures for the investigation of genetic, structural, or numerical changes of the genetic information in spermatozoa and oocytes as well as in embryos after in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI). PID of oocytes is well established in Germany for the above-mentioned indications. PID at the embryonic level, i.e., trophectoderm biopsy of blastocysts, is possible in centers with proven expertise in reproductive medicine and human genetics. A high risk for genetic disease in the child or a high likelihood for stillbirth or miscarriage is a prerequisite for PID. A specialized ethics committee is required to look into each case before making a decision. While PID is still under development in Germany, it has been a well-established technology worldwide for 24 years. International experience in PID and the resulting implications are discussed in this article.

Several new legal regulations and guidelines introduced in 2010 have changed the duties involved in medical information and counseling on preimplantation genetics (PGD) and prenatal diagnosis (PND).These regulations share the goal of a high-quality health service offering patients interdisciplinary and multidisciplinary expertise, especially taking into account psychological and social aspects. This contribution presents crucial elements for cooperating counseling in the PGD and PND fields. It considers results from a nationwide survey of all professional groups involved in counseling after a pathological prenatal diagnosis according to the law. Crucial to interdisciplinary counseling are choosing the appropriate medical specialty for referral, a positive basis for cooperation, and the right time for consulting another doctor. Several central issues have been identified for successful multidisciplinary counseling: identifying the suitable moment and method to establish contact between the patient and psychosocial counselor, focusing on PGD and PND centers as well as on the transparent qualifications of psychosocial counselors, and appreciating the importance of cooperation.

The role of the physician in the context of in vitro fertilization and preimplantation genetic diagnosis has certain distinct characteristics. Involuntary childlessness by definition of the WHO is a disease with good treatment options. As it is not considered a medical emergency, the focus lies more on intensive information giving, education, and counseling. Because the diagnosis and treatment can be a medical and psychological strain for the couple, counseling should address both medical and psychological aspects. The physician needs to have detailed medical knowledge as well as good communication skills to be able to meet the specific needs of the couple. Moreover, the physician should point out the realistic success rates of treatment and should refer to alternatives, such as remaining childless, adoption, and sperm or egg donation. The concurrent inclusion of biological, psychological, social, and ethical aspects in terms of psychosomatic basic care (Psychosomatische Grundversorgung) seems to be useful. There is potential for conflicts, for example, due to the economic interests of the physician. On the other hand, the treatment can be a financial burden for the couple. Of importance are the physician's and the patient's moral concepts, especially concerning some aspects of therapy (sperm and egg donation, surrogacy). The expected welfare of the intended child should also be respected (e.g., higher risk of preterm birth in multiple pregnancies). Further possible conflicts in reproductive medicine arise because of the crossing of moral boundaries (oocyte donation for postmenopausal women, surrogacy, cloning of human beings). The framework of counseling is based on the guidelines of the German Medical Association (Bundesärztekammer) for assisted reproduction (2006). Preimplantation genetic diagnosis has special requirements from a medical and psychosocial point of view.

Polar body diagnosis (PBD) is a diagnostic method for the indirect genetic analysis of oocytes. Polar bodies are by-products of the meiotic cell cycle which have no influence on further embryo development. The biopsy of polar bodies can be accomplished either by zona drilling or laser drilling within a very short time period. The paternal contribution to the genetic constitution of the developing embryo cannot be diagnosed by PBD. The major application of PBD is the detection of maternally derived chromosomal aneuploidies and translocations in oocytes. For these indications, PBD may offer a viable alternative to blastomere biopsy as the embryo's integrity remains unaffected in contrast to preimplantation genetic diagnosis by blastomere biopsy. The fast development in the field of molecular diagnostics will also influence PBD and probably allow a more general diagnosis in the future.

Who wants Preimplantation Genetic Diagnosis (PGD), who rejects it? The implications resulting from biological facts and legal regulations are addressed here. It is discussed under which conditions the restrictions of the Embryo Protection Act (Embryonenschutzgesetz, EschG) should be relaxed in order to be able to perform assisted reproduction technologies in Germany under international quality standards and also PGD in cases of stringent medical-genetic conditions.

Preimplantation genetic diagnosis (PGD) undertakes an examination of an embryo outside the mother's womb subsequent to artificial insemination in order to identify a potential genetic and chromosomal impairment of that embryo. PGD is not being practiced in the Federal Republic of Germany since it cannot be reconciled with the provisions of the Embryo Protection Law. Objections have been raised against PGD based on ethical, religious and feminist arguments as well as on the grounds of legal framework policy. The essence of those objections relates to the fact that this method relativises the inviolability of the embryo in its early stages. Even human dignity itself is considered in danger. However, those objections have themselves caused demur. A variety of ethical reasons make it appear conceivable to allow PGD under narrowly defined conditions in medically founded cases. PGD can be used to the benefit of the health of both the pregnant mother and the expected children. In case PGD should be permitted, it would have to be within the framework of medical and sociopsychological counselling.

Definition of problem:Reproductive Biomedicine and new reproductive technologies (ART) belong to the fields of medicine that initiated most of the discussion on enhancement and desire fulfilling medicine in bioethics during the last years. One of the crucial questions to be answered is the definition of the right to procreate/right for a genetically related child. Closely connected are controversial opinions in regard to the definition of sterility as a disease/illness, or a mere fate, or malfunction, which does not have to be medically cured. Arguments: After a cursory description of the national and international debate, we introduce some results of our 'bioethical field studies', exploring and comparing the views of experts (human geneticists, ethicists, pediatricians, obstetricians and midwifes) and couples/patients (IVF couples, high genetic risk couples and couples with no known risk for an inherited disease or infertility problem) on sterility, the right to procreate, possibilities and appropriate limits of IVF in Germany.According to the WHO, sterility has to be defined as an illness, if the respective couples have a desire for a child. IVF can be a means for a cure. Since 2004, Germany does no longer supply a thoroughly insurer financed IVF treatment. Our surveys indicate that this change, though supported by many experts, is hard to accept for couples concerned. Only obstetricians share the WHO's view that sterility should count as an illness. Many ethicists see a proclaimed human right to procreate as merely negative right, although many support free IVF treatment for poor couples. We challenge the expert majority view on the basis of the capability approach (Amartya Sen) and functional liberalism (Herlinde Pauer Studer) and with a view to the international state of the art in IVF. The desire to have children cannot be reduced to a non-authoritative preference whose fulfillment is optional, but has to be conceptualized as a normative need that ought to be met.

During recent years the progress with the most important practical impact in prenatal diagnosis has been the implementation of first trimester risk screening for common aneuploidies leading to a much improved identification of pregnancies at risk. Molecular methods for a rapid, cost-effective, but selective aneuploidy diagnosis such as interphase FISH or QF-PCR have been around for years, do have their specific indications, but will unlikely replace conventional cytogenetic tools in routine diagnosis. They apparently do also play a role as marketing instruments in the competition among cytogenetic laboratories. The most thrilling issue for all cytogeneticists in the years to come will be the introduction of array-based methods in the prenatal routine diagnosis of chromosomal abnormalities. Polar body diagnosis has been the only option available for preimplantation genetic diagnosis in german speaking countries. The overwhelming majority of all professionals involved and many families concerned share the hope that the legal situation will improve in these countries to allow the examination of early embryos in high risk situations.

The discussion on pre-genetic diagnosis continues. The question is whether it should be allowed in Austria and Germany, too. Pre-geneticdiagnosis aims at examining embryos for possible genetic damage prior to implantation. The method of producing embryos in vitro (IVF) primarily served to enable hitherto childless couples to become parents. Currently, however, application is moving towards helping couples capable of natural fertilisation but at higher risk of producing a handicapped child. Here, embryos are created in vitro, examined and only implanted if in good health. The damaged embryos, however, are destroyed. Some argue that this form of selection is no different to the termination of pregnancy in an abortion, and furthermore the PID is the more gentle method. These arguments are discussed in this article, and in addition whether the principle of preserving human dignity is already valid for the embryo and whether a doctor is authorized to produce, select and kill human life.

This paper describes the current status of preimplantation diagnosis from the viewpoint of an experienced clinician specialized in reproductive medicine. Current progress and international experience with different applications and techniques are reviewed on the basis of the literature. Particular interest is focused on possible advantages of routinely diagnosing major chromosome aneuploidies in preimplantation-embryos of patients undergoing in vitro fertilization and embryo transfer. Last but not least, a short survey of the international guidelines and legislation is compared to the situation in Austria where it is currently unclear whether preimplantation diagnosis is allowed or not.

Huntington's disease is an autosomally dominant, inherited neurodegenerative disorder. Depression, psychotic syndromes, and personality changes are common psychiatric features, frequently occurring before the onset of characteristic motor symptoms. Since 1993, direct genetic testing has been available, which provides predictive diagnosis even in neurologically asymptomatic persons at risk. The prediction of this devastating disease constitutes a massive psychological burden. In particular, since possibilities of prevention or causal therapy are still not known, ethical aspects are of considerable importance. This refers for example to preimplantation diagnostic testing or the testing of children. Besides, it is important to consider paranoid or depressive symptoms restricting the competence of decision making for genetic testing. Early-onset cognitive deficits may also lead to fundamental disability in understanding. In addition, informed consent may be complex due to social or familial issues which may interfere with the autonomy of the applicant. In these circumstances, the counselor may clash between the principle of beneficence/nonmaleficence and respect for the autonomy of the applicant. In the future, genetic tests will be used for an increasing number of inherited diseases; it is therefore necessary to learn from experiences in the predictive testing of Huntington's disease and to develop ethical codices that can be transferred to the practice of counseling in other genetic disorders.

Novel knowledge in the fields of molecular biology, genetics and reproductive medicine will revolutionize medicine in the near future. Among many new therapeutical aspects arise a number ethical questions that include preimplantation diagnostics, embryonic stem cell research and gene therapy. Believing in scientific progress is often criticized but today it is primarily ignorance as well as fundamentalism that block sensible discussions. In the future it shall be of importance to differentiate between "to be alive" and "to have a life", hence yielding a new definition of the term "life". Also important is to keep in mind the difference between individual moral claims and general ethics. Without doubt, the current developments in medicine will bring about interesting consequences but the inherent dangers are recognizable as well. However, only a positive attitude will result in beneficial developments. More flexibility on all sides will be needed in the concurrent discussion process.

Prenatal medicine touches upon elementary questions of the quality of life - of the mother as well as of the unborn child and of the physician. In essence, it is always about the determination of human worth by human beings. Each prenatal care examination is a measure of prenatal medicine. Prenatal medicine has gained today, and rightly so, a high and positive position in obstetrics and within our society. Without a doubt however, the advancements of prenatal medicine have also awakened demands and desires. We are increasingly faced with the 'demand for a healthy child'. In the ethical evaluation, intrauterine diagnostic measures are questionable as long as no intrauterine therapy is possible and only the killing of the child follows as 'therapy'. The contents of the 'indication', especially with respect to what can reasonably be demanded from the mother or the parents, are discussed with respect to liability law - 'the child as damage'. The reform of 218 StGB (German criminal law code) has provoked, among other issues, the pre- and postnatal problem of iatrogenic preterm birth. The ever present question is becoming more transparent with the liveborn sick child, which should have actually died, i.e. why instead the life of this child suddenly assumes the full legal protection so that active handling is replaced by passiveness. The two-facedness of prenatal medicine appears even more clearly when picturing the current political discussions concerning what is newly feasible in prenatal medicine, namely preimplantation diagnostics.