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PubMed1993

The law's response to reproductive genetic testing: questioning assumptions about choice, causation and control.

The law's response to reproductive genetic testing depends on a number of assumptions about choice, causation and control which need to be questioned. From the preconception stage forward, the illusion of choice may raise such fundamental questions as the woman's choice not to be tested, limits on genetic information, and the availability of reproductive options. In turn, assumptions about choice raise questions about the responsibility for results and the connection between choice and causation in the context of wrongful birth and life actions. Assumptions made about control over reproductive choice and over causing 'harm', will impact on the development of future law.

Abortion, Eugenic↗
PubMed1993

Psychosocial issues in reproductive genetic testing and pregnancy loss.

This paper considers the psychosocial experience of women undergoing reproductive genetic testing, with attention to the impact of pregnancy loss after testing. New directions for research are called for to provide more in-depth understanding of the meaning of these experiences for women and their male partners.

Abortion, Eugenic↗
PubMed2006

Counselor-counselee interaction in reproductive genetic counseling: Does a pregnancy in the counselee make a difference?

OBJECTIVE: To investigate the influence of a pregnancy and other counselee characteristics on several aspects of counselor-counselee interaction during the initial clinical genetic consultation. METHODS: The consultations, of a group of pregnant women (n = 82) and of a control group of non-pregnant women (n = 58), were compared specifically with regard to differences in global affective tone, extent of psychosocial exchange and women's participation in the decision-making process. Consultations were recorded, and subsequently coded from audiotape by 10 raters. RESULTS: Only two differences in outcome measures were found between the two study groups: the counselor was rated as slightly more nervous in consultations with pregnant women, and in consultations with non-pregnant women fewer decisions were taken. The length of the consultation, the contribution of a counselee's companion to the consultation and counselee characteristics (age, level of education, initiation of referral, affected person, degree of worry and preferred participation in decision-making) were more important in explaining the nature of the interaction. CONCLUSION: Our study yielded no important differences in counselor-counselee interaction during the initial clinical genetic consultation of pregnant versus non-pregnant women regarding the affective tone of the consultation, the degree to which psychosocial issues were discussed and the women's participation in the decision-making process. PRACTICE IMPLICATIONS: Our findings suggest that a negatively affected counselor-counselee interaction is not an important disadvantage in consultations with pregnant women. Given the limitations of our study, however, we advocate further studies on counselor-counselee interaction in reproductive genetic counseling, in order to improve the quality of reproductive genetic counseling.

Adolescent↗
PubMed2003

Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review.

With an incidence of approximately 1 in 500 male newborns, the 47,XXY genotype is one the most common sex chromosome anomalies. It is also the most frequent genetic cause of human infertility. Some non-mosaic 47,XXY patients have sperm production which allows infertility treatment to be offered by ICSI. Therefore, the risk of transmitting a chromosome anomaly to the next generation is an important problem in reproductive genetic counselling of these patients. Here, we report on a twin pregnancy where two karyotypically normal neonates 46,XX and 46,XY were born after the use of ICSI in assisted reproduction of a patient with a non-mosaic 47,XXY syndrome. To date, only 38 evolving pregnancies including the present cases, have been reported after ICSI using sperm from non-mosaic 47,XXY patients. Although these data are scarce, they suggest that the risk of chromosome anomaly in the offspring of these patients is low; hence, their reproductive genetic counselling can be reassuring, and management of the pregnancy can proceed with caution.

Adult↗
PubMed1993

Reproductive genetic testing: regulatory and liability issues.

Analysis of current law demonstrates that the responses of state and federal governments and the legal system to reproductive genetic testing both have shaped the development of and reflect society's views about these techniques. Access to testing has been increased by governmental provision of services and enactment of insurance requirements and by the state courts' frequent approval of individual litigants' claims that they were inappropriately denied genetic information. Many state legislatures, however, have tried to limit testing by failing to provide funds, by forbidding private lawsuits and by limiting access to abortion.

Abortion, Eugenic↗
PubMed2005

Opinions about new reproductive genetic technologies: hopes and fears for our genetic future.

OBJECTIVE: To identify underlying beliefs and values shaping Americans' opinions about the appropriate use of new reproductive genetic technologies (RGTs), including preimplantation genetic diagnosis, hypothetical genetic modification, and sperm sorting for sex selection. DESIGN: Scenarios with ethical dilemmas presented to 21 focus groups organized by sex, race/ethnicity, religion, age, education, and parental status. SETTING: A city in each state: California, Colorado, Massachusetts, Michigan, and Tennessee. PARTICIPANT(S): One hundred and eighty-one paid volunteers, ages 18 to 68. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Beliefs and values that shape participants' opinions about the appropriate use of new RGTs. RESULT(S): Regardless of demographic characteristics, focus group participants considered six key factors when determining the appropriateness of using RGTs: [1] whether embryos would be destroyed; [2] the nature of the disease or trait being avoided or sought; [3] technological control over "natural" reproduction; [4] the value of suffering, disability, and difference; [5] the importance of having genetically related children; and [6] the kind of future people desire or fear. CONCLUSION(S): Public opinions about the appropriate use of RGTs are shaped by numerous complementary and conflicting values beyond classic abortion arguments. Clinicians and policy-makers have the opportunity to consider these opinions when creating messages and crafting policy.

Adolescent↗
PubMed1995

Recent advances in reproductive genetic technologies.

New possibilities for the diagnosis and treatment of reproductive and genetic disorders are becoming available as a result of a series of recent technical advances. Intracytoplasmic sperm injection (ICSI) allows treatment of numerous infertile men whose sperm cannot penetrate the egg to initiate fertilization. Molecular genetic testing provides clients of reproductive age with additional information that permits prevention of genetic diseases such as fragile X syndrome, the leading cause of inherited mental retardation. Preimplantation genetic testing (PGT) offers couples who carry genetic disorders the prospect of having children with a greatly decreased risk of initiating a pregnancy involving an affected individual. Flow-cytometric sperm separation offers a new, effective approach for prevention of X-linked genetic disorders. Two major causes of recurrent pregnancy loss (RPL) involve recurrent trisomies and immunological disorders. Of the latter, 70% of studied populations of patients can attain live births with simple treatment protocols. Maternal serum assays involving multiple markers reduce both false positives and false negatives in detection of trisomies. Despite these advances in research, many safe and effective methods of diagnosis and treatment remain under-utilized in the clinical arena.

Abortion, Habitual↗
PubMed1998

Reproductive genetics and today's patient options: prenatal diagnosis.

Rapid and safe prenatal diagnosis has become the standard of care in high-risk pregnancy. The safety and reliability of prenatal diagnosis by mid-trimester amniocentesis and first-trimester chorionic villus sampling (CVS) are reviewed, and accepted medical indications for referral are defined for both procedures. Techniques for evaluating the fetus for abnormality including amniocentesis, CVS, ultrasound, percutaneous umbilical blood sampling, fetal biopsy, amniotic fluid alpha-fetoprotein analysis, and maternal serum screening are described. The need for appropriate prenatal genetic counseling before any diagnostic modality is emphasized.

Amniocentesis↗
PubMed2006

Genetic reproductive risk in inversion carriers.

OBJECTIVE: To evaluate the risk of four inversion carriers for producing unbalanced gametes. DESIGN: Prospective analysis of sperm nuclei by fluorescence in situ hybridization (FISH). SETTING: Universitat Autònoma de Barcelona. PATIENT(S): Four inversion carriers. INTERVENTION(S): A semen sample from each patient was collected and prepared for FISH. MAIN OUTCOME MEASURE(S): The segregation outcome of each inversion was analyzed. The presence of interchromosomal effects (ICE) on chromosomes 13, 18, 21, X, and Y was also evaluated. RESULT(S): A variable production of unbalanced gametes, which implies a heterogeneous behavior of the inversions, was detected. This variability seems to be directly related to the size of the inversion, indicating that the production of recombinant gametes in inversion carriers would not be relevant when the inverted segment is smaller than 100 Mbp. CONCLUSION(S): Inversions have a well-defined reproductive effect on carriers. Carriers of inversions up to 100 Mbp have a low [corrected] reproductive risk and would not usually benefit from preimplantation genetic diagnosis.

Adult↗
PubMed2002

Reevaluating repugnance: a critical analysis of Leon Kass' writings on genetic reproductive technologies.

Recent philosophical and political discourse surrounding the issue of human cloning has dominated both public and academic arenas. With the dual potential to address human disease, distress, and disorder in unprecedented ways, and to offend a vast public uncomfortable with the technology, cloning represents a true political conundrum. Adulterated by the opinion of an uninformed public, the murky waters of public policy-making foster arguments like Leon Kass' "Wisdom of Repugnance." Unfortunately, such appeals to repulsion do not fare as well in the academic arena. Kass proposes that society yield to repugnance as an ethically relevant factor, since the elicitation of such repugnance signifies the defilement of human nature. However, such an application of repulsion and offense to human nature leads to improbable conclusions and internal contradictions that soundly repudiate the acceptance of such a principle. Thus, rather than pre-analytically yielding to visceral emotions and passions, individual rational agents--and the public generally--ought to thoroughly analyze all of the relevant factors surrounding cloning before, and perhaps instead of, rejecting the technology simply because it elicits repugnance.

Biological Evolution↗
PubMedDate not supplied

An astonishing journey into reproductive genetics since the 1950's.

Training in genetics in Edinburgh in the 1950s led to a PhD on the developmental biology of mouse embryos with unusual chromosomal complements. Fundamental aspects of reproduction under study included ovulation induction, oocyte maturation and embryonic growth to blastocysts. It led to the introduction of embryo stem cells, preimplantation genetic diagnosis, the exact timing of human oocyte maturation in vitro and studies on fertilising human eggs in vitro to alleviate human infertility. My work was helped by studies on sperm capacitation and the physiology of fertilization in domestic and laboratory species by Thibault, Dauzier, Austin, Chang, Yanagimachi and others. I met Charles Thibault at a meeting in Cambridge U.K. where he criticised the work of Moricard, and then frequently on lecture circuits. Impressed by his grandeur but not his doubts about human IVF, Steptoe and I initiated human embryo transfers and the birth of Louise Brown. Details of her pregnancy had to be confidential to reduce the risks of abortion associated with the intrusion of numerous newsmen chasing the story. I was compelled to withold this information at a meeting in Paris in the late 1960s when I had to leave early to return to UK. This omission annoyed Thibault and led to our celebrated quarrel. I felt he failed to appreciate the complexity, the implications of this pregnancy and an astonishing future. So much was at stake, including IVF, stem cells and preimplantation diagnosis to help millions of patients. Some months later, our dispute was ended even if somewhat formally. Nevertheless it is a pleasure to recall how we shared so much in common. I still admire him as an inspiration to many colleagues and students, and a father figure in French agricultural research.

Animals↗