Which types of conditions should be included in reproductive genetic carrier screening? Views of parents of children with a genetic condition.

Reproductive genetic carrier screening identifies couples with an increased chance of having children with autosomal and X-linked recessive conditions. Initially only offered for single conditions to people with a high priori risk, carrier screening is becoming increasingly offered to individuals/couples in the general population for a wider range of genetic conditions. Despite advances in genomic testing technology and greater availability of carrier screening panels, there is no consensus around which types of conditions to include in carrier screening panels. This study sought to identify which types of conditions parents of children with a genetic condition believe should be included in carrier screening. Participants (n = 150) were recruited through Royal Children's Hospital (RCH) Melbourne outpatient clinics, the Genetic Support Network of Victoria (GSNV) and a databank of children with hearing loss (VicCHILD). This study found that the majority of participants support offering carrier screening for: neuromuscular conditions (n = 128/134, 95.5%), early fatal neurodegenerative conditions (n = 130/141, 92.2%), chronic multi-system disorders (n = 124/135, 91.9%), conditions which cause intellectual disability (n = 128/139, 92.1%) and treatable metabolic conditions (n = 120/138, 87.0%). Views towards the inclusion of non-syndromic hearing loss (n = 88/135, 65.2%) and preventable adult-onset conditions (n = 75/135, 55.6%) were more mixed. Most participants indicated that they would use reproductive options to avoid having a child with the more clinically severe conditions, but most would not do so for clinically milder conditions. A recurring association was observed between participants' views towards carrier screening and their lived experience of having a child with a genetic condition.

Establishing a quality management system in a fertility center: experience with ISO 9001 / SISTEMA DE GESTÃO DE QUALIDADE NA CLÍNICA DE REPRODUÇÃO HUMANA: EXPERIÊNCIA COM A NORMA ISO 9001

In Fertility Centers, quality should be measured by how well the organization complies with pre-defined requirements, and by how quality policies are implemented and quality objectives achieved. Having a quality management system (QMS) is a mandatory requirement for IVF centers established in most countries with regulatory guidelines, including Brazil. Nevertheless, none of the regulatory directives specify what a QMS must have in detail or how it should be implemented and/or maintained. ISO 9001 is the most important and widespread international requirement for quality management. ISO 9001 standards are generic and applicable to all organizations in any economic sector, including IVF centers. In this review, we discuss how we implemented QMS according to ISO 9001 and what we achieved 5 years later. In brief, with ISO we defined our structure, policies, procedures, processes and resources needed to implement quality management. In addition, we determined the quality orientation of our center and the quality objectives and indicators used to guarantee that a high-quality service is provided. Once measuring progress became part of our daily routine, quantifying and evaluating the organization's success and how much improvement has been achieved was an inevitable result of our well-established QMS. Several lessons were learned throughout our quality journey, but foremost among them was the creation of an internal environment with unity of purpose and direction; this has in fact been the key to achieving the organization's goals.

Na clínica de reprodução humana, a qualidade deve ser medida pela maneira como a organização cumpre os requisitos pré-definidos, e pela forma como as políticas de qualidade são implementadas e os objetivos de qualidade alcançados. Ter um sistema de gestão da qualidade (SGQ) é um requisito obrigatório para centros de fertilização in vitro estabelecidos na maioria dos países com diretrizes regulatórias, incluindo o Brasil. No entanto, nenhuma das diretivas regulamentares especifica o que um SGQ deve ter em detalhe ou como ele deve ser implementado e/ou mantido. A norma ISO 9001 é a exigência internacional mais importante e adotada mundialmente para a gestão da qualidade. Os conceitos da norma ISO 9001 são genéricos e aplicáveis a todas as organizações em qualquer setor económico, incluindo as clínicas de fertilização in vitro (ou bancos de células e tecidos germinativos tipo 2, como denominados no Brasil pela Agência Nacional de Vigilância Sanitária). Neste artigo, discutimos como implementamos um SGQ de acordo com a norma ISO 9001 e o que conseguimos 5 anos mais tarde. Em suma, com a norma ISO definimos nossa estrutura, políticas, procedimentos, processos e recursos necessários para implementar a gestão da qualidade. Além disso, determinamos a orientação da qualidade do nosso centro além dos objetivos de qualidade e indicadores utilizados para garantir que um serviço de alta qualidade seja fornecido para nossos clientes. A partir do momento que a mensuração do progresso tornou-se parte da nossa rotina diária, quantificar e avaliar o sucesso da organização e os resultados atingidos passou a ser uma consequência inevitável de um SGQ bem estabelecido. Várias lições foram aprendidas ao longo de nossa jornada de qualidade, mas o mais importante foi a criação de um ambiente interno com unidade de propósito e direção, que se tornou peça chave para alcançar os objetivos da organização.

Taming Our Brave New World.

Advances in reproductive technology have already revolutionized our culture in various ways, and future potential developments, particularly in genetics, promise more of the same. The practice of surrogacy threatens to upend the way we understand the family. Germline engineering of human embryos could, among other things, lead to the treatment of genetic diseases hitherto incurable; but the widespread use of such engineering could have broader ramifications for our culture, for better and for worse. Parents may eventually be able to select for desirable traits in their offspring, whether by genetic modification at conception or by choosing to implant one of several genetically profiled embryos. Authors in this issue of The Journal of Medicine and Philosophy address some of the ethical implications of these technological and cultural changes.

[Activities and responsibilities of workers in embryologic and andrologic laboratories in assisted reproduction centers]. / Cinnosti a odpovednosti pracovníku embryologické a andrologické laboratore v centrech asistované reprodukce.

This paper presents the current status and rules for the laboratory staff activities and their competences in the centers of assisted reproduction. The rules were processed by the members of the Association of Reproductive Embryology (ARE) committee under the current legislation. Committee members of the Czech Sterility and Assisted Reproduction Society and Czech Gynecology and Obstetric Society approved these rules as obligatory for assisted reproduction centres in Czech Republic.

Recommendations for gamete and embryo donation: a committee opinion.

This document provides the latest recommendations for evaluation of potential sperm, oocyte, and embryo donors, incorporating recent information about optimal screening and testing for sexually transmitted infections, genetic diseases, and psychological assessments. This revised document incorporates recent information from the U.S. Centers for Disease Control and Prevention, the US Food and Drug Administration, and the American Association of Tissue Banks, with which all programs offering gamete and embryo donation services must be thoroughly familiar, and replaces the document titled, "2008 Guidelines for Gamete and Embryo Donation: A Practice Committee Report," last published in Fertil Steril 2008;90:S30-44.

On the cutting edge: ethical responsiveness to cesarean rates.

Cesarean delivery rates have been steadily increasing worldwide. In response, many countries have introduced target goals to reduce rates. But a focus on target goals fails to address practices embedded in standards of care that encourage, rather than discourage, cesarean sections. Obstetrical standards of care normalize use of technology, creating an imperative to use technology during labor and birth. A technological imperative is implicated in rising cesarean rates if physicians or patients fear refusing use of technology. Reproductive autonomy is at stake since a technological imperative undermines patients' ability to choose cesareans or refuse use of technology increasing the likelihood of cesareans. To address practices driven by a technological imperative I outline three physician obligations that are attached to respecting patient autonomy. These moral obligations show that a focus on respect for autonomy may prove not only an ideal ethical response but also an achievable practical response to lowering cesarean rates.

[Assisted procreation technology and people with HIV]. / Aide médicale à la procréation chez les personnes infectées par le VIH.

In France, a ministerial decree dated 10 May 2001 authorizes the use of assisted reproduction technologies (ART) for people infected with the human immunodeficiency virus (HIV), either to reduce the risk of transmission between partners or to treat the couple's infertility. The HIV patient must have a CD4 T lymphocyte count>200/mm(3) and a stable viral load (no increase exceeding 0.5 log(10) copies/mm(3)) between 2 samples during the 6 months preceding ART. Co-infections with hepatitis B or C must be assessed by a specialist. When the man is infected, only ART allows conception while simultaneously ensuring safe sexual relations between the couple. ART is performed with prepared spermatozoa, validated negative for HIV RNA. The particular ART method depends on the results of the couple's fertility assessment and the quantity of virus in the seminal fluid. Antiretroviral treatment is not required for ART but may be necessary if the seminal viral load is elevated. When the woman is infected, the couple must be informed about the risks of HIV transmission to the child and of toxicity to mother and fetus from the antiretroviral treatments. These risks must guide optimization of the antiretroviral treatment, which is not routine during ART but is systematic during the last trimester. Management of pregnancy planning should propose artificial insemination and rapid recourse to ART because ovarian function appears to deteriorate quickly in women with HIV. Several thousand couples in Europe have used ART without any cases of contamination reported so far. Approximately half of these couples can hope to have a child, but approximately one third decide against ART after consultation.

[Fertility treatments: possibilities for fewer multiple births and lower costs--the 'Umbrella' study]. / Vruchtbaarheidsbehandelingen: mogelijkheden voor minder meerlingen en lagere kosten--de 'Paraplustudie'.

Since the 1980s, increasingly more fertility treatments have been performed in the Netherlands. The use of ovarian hyperstimulation during in vitro fertilisation (IVF) and intrauterine insemination (IUI) has contributed to an explosive increase in the number of multiple births. To control the costs of treatment and outcomes, the Minister of Health, Welfare and Sport commissioned research on possible improvements in the performance of fertility treatments in 1999. The results of this research ('Umbrella study'), reported in 2005, suggested that costs and the incidence of multiple births could be reduced if (a) IUI is only performed if the chance of spontaneous pregnancy is less than 30%; (b) the guideline 'Intrauterine insemination' is followed more closely regarding hormonal stimulation; (c) stimulation is used less frequently during IVF; and (d) no more than 1 embryo is placed in the uterus at a time. To achieve these results, all parties involved must revise their policies. In particular, current reimbursement regulations inhibit the implementation of the research results in practice.

Ethical aspects of advanced reproductive technologies.

The progress achieved during the last 25 years in the assisted reproductive technology field has been phenomenal. Many countries currently practice genetic material donation, human embryo cryopreservation, selective embryo reduction, preimplantation genetic diagnosis, and surrogacy. While embryo research and therapeutic cloning are carried out only in a few centers, thus far human cloning has been universally condemned. Nonetheless, the rapid evolution and progress of these various techniques of assisted reproduction has opened a Pandora's box of ethical issues that must be urgently addressed.

[Comparisons of legal conditions for reproductive medicine in Germany with other European states and the need for reform that emerges]. / Rechtliche Bedingungen der Reproduktionsmedizin in Deutschland im europäischen Vergleich und daraus erwachsender Reformbedarf.

This article gives an overview of the rules and principles established in Germany with regard to reproductive medicine. In addition the article outlines the respective rules that exist in western European states and investigates the bioethics principles established by the Council of Europe and the UNESCO. Compared with those of the western European states the German rules are rigid, restrictive and conservative. Because in an open international society the more liberal approaches will prevail, it will not be possible, in the long run, to uphold the distinctions made by the German rules.

[Right and ethics in reproductive medicine--medical and ethical aspects]. / Recht und Ethik in der Reproduktionsmedizin--Arztliche und ethische Aspekte.

Legality and ethics in reproductive medicine are interdependent. Whether ethics degenerates into an ethics of convenience and adaptation, or into an ethics that always comes too late, depends on each doctor and researcher. Our medical care requires legal guidelines. There is not only a responsibility for research, but also one for engaging in research. This position is presented in four sections: on reproductive medicine, the moral status of the embryo, the research on spare embryos and in a section on reproductive medicine in Europe.

[The child as damage--physicians' liability in cases involving reproductive and prenatal medicine]. / Das Kind als Schaden--Arztliche Haftung in der Reproduktions- und Pränatalmedizin.

In case of medical malpractice courts grant the parents of unwanted or handicapped children damages towards the costs of alimony. In this article the development of the courts' rulings and the criticism made of them will be presented in detail. Granting damages towards the costs of alimony does not call into question the right to live of an unborn child. It is rather just another case of professional liability of physicians. Regarding the development of the law, with respect to the legal admissibility of induced abortions, including those undertaken during late stages of pregnancy, the physician may come under pressure to recommend an abortion to rule out any claims for damages. This subject is in need of legal regulation pursuant to the forthcoming medical reproduction law.