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Psychological response to prenatal genetic counseling and amniocentesis.

The purpose of the present study was to characterize the psychological status (attitudes toward selective abortion, perceived risk, comprehension, patient satisfaction, coping, and state anxiety) of pregnant women at increased risk for fetal genetic anomalies who were referred for prenatal genetic counseling and amniocentesis; to determine which of these factors would predict amniocentesis use; and to identify patient outcomes associated with counseling and testing. Participants were 129 women aged 18 years and older who had one or more fetal genetic risk factors. All were recruited from an urban women's health clinic. The results revealed elevated perceptions of risk and moderate state anxiety despite adequate comprehension of, and patient satisfaction with, the process and content of genetic counseling. Approximately 78% agreed to testing; those who consented were more likely to hold favorable attitudes toward abortion than those who refused. Post-counseling, women experienced decrease in their perceived risk of having a baby born with a birth defect although perceived risk estimates remained higher than actual risks. Anxiety was clinically elevated and highest at the pre-counseling stage, though it dissipated to normal levels over time. Previous experience with prenatal diagnostic testing, increased perceived risk of a birth anomaly, and favorable attitudes toward abortion were independently associated with increased pre-counseling anxiety. Women who were more anxious pre-counseling remained more anxious post-counseling. Coping (high versus low monitoring) was unrelated to anxiety. These findings suggest that women who participate in prenatal counseling and testing may be subject to experience distress and unrealistic perceptions of their risk and may benefit from interventions designed to lessen these states.

Abortion, Induced↗

Preimplantation genetic diagnosis as an alternative to amniocentesis and chorionic villus sampling: psychosocial and ethical aspects.

Social and ethical considerations play an increasing role in decisions about the use of diagnostic technologies. In this article expert opinions of a medical-biological and a social-ethical panel on psychosocial, ethical and social aspects of preimplantation genetic diagnosis (PGD) are discussed. PGD is a new diagnostic technology for identifying chromosomal or single gene defects, which is now available as a medical treatment in several western countries. In contrast to traditional technologies like amniocentesis and chorionic villus sampling PGD offers the possibility for diagnosis before pregnancy. The panels expected PGD to be chosen only in serious situations. IVF was considered to be a barrier for PGD but less so in more serious situations. Destruction of pre-embryos was thought more acceptable than selective abortion, but only marginally. Finally a substantial decrease was expected in the acceptance of handicapped people in society as a consequence of the possibilities of technologies like PGD. Although PGD offers new possibilities for couples at risk of having a child with a genetic defect, it is important that couples are counseled in a way that emphasizes both the advantages and disadvantages of the technology. The general public should be informed about possibilities and impossibilities of preventive diagnosis and the right of future parents not to use genetic diagnosis.

Adult↗

[Rapid determination of sex in Myocastor coypus embryos in the first stage of gestation].

The early knowledge of the sex may be crucial for the understanding of many features of ecological and evolutive biology, including offspring sex-ratio adjustment and evolution of breeding systems. In coypu (Myocastor coypus), significant variation in birth sex-ratios can be observed and selective abortion of entire litters is one of the cited mechanisms. In order to determine the sex of coypu embryos in the earlier stages of gestation (second week), we developed a molecular technique based on PCR amplification of a region of the Sry gene. These method used the combination of two sets of primers: one specific of the Y-chromosome; the other one, autosomal, is a positive control for amplification. Because of the direct amplification of embryo lysate without DNA extraction, the present sexing technique is rapid, relatively simple and inexpensive, and presents numerous advantages for the study at population scale.

Animals↗

Fetal sex determination by high resolution ultrasound in early pregnancy.

OBJECTIVE: Fetal sex determination by ultrasound, and its medical and ethical implications, has been predominantly discussed in mid and late gestation. The development of high resolution ultrasound equipment has provided the possibility of detailed visualization of the fetus in early pregnancy. The present prospective study investigates the feasibility and accuracy of fetal sex determination by transabdominal ultrasound in early pregnancy. METHODS: Sonographic determination of fetal sex was attempted prospectively prior to genetic amniocentesis in 173 fetuses from 11 to 16 weeks of gestation. The result of ultrasound examination was compared with the karyotype obtained from amniotic fluid cells. RESULTS: Sonographic sex determination was feasible in 80.3% of cases, and all these determinations proved to be correct. There was no difference in the identification rate between male (n=87) and female (n=86) sex. Fetal sex determination was also feasible and correct in all four sets of twins and in the one set of quadruplets. CONCLUSION: Fetal sex assignment in the late first and early second trimester can be useful in pregnancies at risk for severe sex-linked diseases, in fetal disorders involving the genitalia, and in the individual identification of multiple fetuses. Prenatal sex assignment in early pregnancy implicates also far-reaching ethical problems because of the potential risk of sex-selected abortion.

Ethics, Medical↗

Fetal diagnosis of inborn errors of metabolism.

Nearly 4000 different human disorders are supposed or known to be due to a single gene mutation. In about 10%, an early diagnosis is possible by the demonstration of specific abnormalities of metabolites in blood and/or urine, an abnormal structure/function of a particular (enzyme) protein or by the (in)direct demonstration of the gene mutation using DNA analysis. These methods of molecular analysis can often also be used for carrier detection. Early identification of couples at risk of handicapped offspring followed by genetic counselling forms the basis for prevention. Follow-up studies have shown that more than half of the couples at risk of a child with a genetic disease refrain from pregnancy. An important alternative for couples at risk is prenatal monitoring and selective abortion. During the last 10-15 years, the technology of fetal diagnosis of genetic diseases has improved and the number of Mendelian disorders that can be diagnosed in utero has increased to more than 100. In the second-trimester of pregnancy, about two dozen inborn errors of metabolism have been diagnosed by metabolite analysis of amniotic fluid supernatant using gas chromatography-mass spectrometry or electrophoretic methods. About 5000 pregnancies at risk of different types of haemoglobinopathy, haemophilia, alpha-1-antitrypsin deficiency and a few other diseases not expressed in amniotic fluid cells have been investigated by biochemical analysis after fetal blood sampling. The most common approach towards fetal diagnosis of inborn errors of metabolism has been the demonstration of a specific enzyme deficiency in cultured amniotic fluid cells. In this way some 60 different diseases have been diagnosed, usually after 2-4 weeks of cultivation after amniocentesis at 16 weeks gestation. In addition, some 20 other Mendelian disorders have been diagnosed in utero by ultrasonography and non-biochemical analysis of amniotic fluid cells or fetal skin biopsies. The introduction of chorionic villus sampling has offered the possibility of first-trimester fetal diagnosis of a large number of Mendelian disorders. The overall diagnostic experience until mid-1986 amounts to about 1500 pregnancies at risk. Some 45 different inborn errors have been diagnosed by enzyme assays directly on chorionic villus homogenate or after incubation with radiolabelled precursors of intact villi followed by chromatography or other types of analysis. In a few instances, cell cultivation for a period of 2-3 weeks is required to establish a reliable biochemical diagnosis.

Amniocentesis↗

Higher order multiple births: natural wonder or failure of therapy?

Data of 601 families with triplets and higher multiples have been collected. Since about nine years the number of higher-order births has been increasing enormously. The average pregnancy duration and the average birthweight of these mostly premature children have been declining from year to year. Despite the progress in neonatology, the death rate and the rate of handicapped children is very high. To prevent such disastrous outcomes, treatments for infertility should be performed only by physicians in centers with strong controls. Selective abortions are no regular solution to the problem of higher multiple gestation.

Birth Weight↗

Chinese traditional medicine and abnormal sex ratio at birth in China.

A study of the abnormal sex ratio at birth in China reveals that it is not an entirely new phenomenon that emerged since the 1980s, but is simply more visible at present. Deliberate intervention to determine the sex of children has existed in the past few decades, at least in certain groups. Apart from modern medical methods, traditional Chinese medical practice is shown to be highly accurate in identifying the sex of a fetus. This may lead to sex-selective abortion and an abnormal sex ratio at birth. The possible causes of the abnormal sex ratio at birth include not only the real imbalance due to the disturbance of social factors, but also a spurious one attributable to the undercounting of female births. The real magnitude of the imbalance has been exaggerated by statistical error. The phenomenon is a complicated one reflecting the comprehensive socioeconomic setting. Among these factors, the stage of the fertility transition is one of the most decisive.

Child↗

From what should we protect future generations: germ-line therapy or genetic screening?

This paper discusses the issue of whether we have responsibilities to future generations with respect to genetic screening, including for purposes of selective abortion or discard. Future generations have been discussed at length among scholars. The concept of 'Guardian for Future Generations' is tackled and its main criticisms discussed. Whilst germ-line cures, it is argued, can only affect family trees, genetic screening and testing can have wider implications. If asking how this may affect future generations is a legitimate question and since we indeed make retrospective moral judgements, it would be wise to consider that future generations will make the same retrospective judgements on us. Moreover such technologies affect present embryos to which we indeed can be considered to have an obligation.

Biomedical Research↗

Alternatively spliced killer-protector system confers S19-mediated hybrid male sterility in rice.

Hybrid sterility limits the use of strong interspecific heterosis and S19 is a major locus that confers hybrid sterility between Oryza sativa (Asian cultivated rice) and Oryza glaberrima (African cultivated rice). However, the S19 is not yet cloned and its underlying mechanism remains elusive. In this study, we identify two closely linked genes (S19A1 and S19A7) specific to African rice allele that encode a killer-protector module at the S19 locus. Two alternatively spliced transcripts expressed from the killer gene S19A1 (S19A1.1 and S19A1.2) encode mitochondria-targeted cytotoxic proteins that cause toxicity diversity for somatic and/or gametic cell death, respectively. However, S19A7 interacts with S19A1.1 and S19A1.2, blocking their cytotoxic effect. Because the Asian rice S19 allele lacks S19A1 and S19A7, male gametes that carry this allele are selectively aborted in Asian-African F1 hybrids. Knockout of S19A1 can overcome S19-mediated hybrid sterility. Haplotype analysis reveals that the functional S19 allele is absent in non-AA-genome Oryza species and likely emerged in the O. barthii-O. glaberrima lineage through a multi-step evolutionary process. Our findings provide insight into the genetic mechanisms responsible for hybrid sterility between Asian and African rice and suggest genetic and biotechnological strategies for the use of interspecific heterosis in rice.

Oryza↗

Counselling about diagnosis and inheritance of genetic bleeding disorders: haemophilia A and B.

Genetic counselling remains an important part of comprehensive haemophilia care despite the improved outlook and quality of life for those who can obtain factor replacement concentrates. Eighty per cent of the world's population with haemophilia have limited or no treatment. It is vital that information about inheritance is made available to them. Genetic bleeding disorders impact on the daily life and psychological health not only of the affected individual, but on carriers and close family. Informed decisions about childbearing (when there is a risk of haemophilia) require knowledge about inheritance, antenatal diagnosis possibilities and consideration of selective abortion. Genetic counselling touches on sensitive issues related to childbearing, handicap and continuation of the family. Guilt, resentment and blame can be reduced if couples are enabled to gain insight into each others views and wishes in a neutral setting. Counsellors need technical knowledge, skills and clarity of purpose to carry out this task.

Adult↗

Reproductive choices for couples with haemophilia.

: Summary. The impact of having a child with an inherited bleeding disorder such as haemophilia can have a far-reaching effect on the individual as well as other close family members. This situation is further complicated in the case of human immunodeficiency (HIV) serodiscordant couples, where the haemophilic man is affected with HIV through infected blood products whilst his partner is seronegative and wanting to have children. It is essential that information on the effects of haemophilia, its inheritance, the possibilities of antenatal diagnosis, the consideration of selective abortion and the new reproductive opportunities available to these couples are made accessible so that an informed decision about proceeding with having a family can be made. Couples may wish to have a family through nonreproductive methods such as fostering or adoption. Alternatively, they may wish to remain childless. In this paper, the terms 'having children' and 'having a family' will refer to conception through biological reproduction. Pre-implantation genetic diagnosis (PGD) offers families at risk of having a child with certain inherited genetic disorders the opportunity to give birth to an unaffected child. It may be considered as an option for couples who would not wish to have prenatal diagnosis leading to possible termination of a pregnancy. Assisted conception techniques, such as 'sperm washing' or the use of 'donor sperm', offer serodiscordant couples affected by HIV a risk-reduced or risk-free opportunity, respectively, to have a child without infecting the mother, who could in turn infect the fetus by vertical transmission. This article, in addition to outlining the inheritance of haemophilia and the more common prenatal screening and diagnostic tests, discusses in more detail the latest reproductive opportunities available for families affected by haemophilia and considering having a family.

Acquired Immunodeficiency Syndrome↗

Pollination in the marine realm: microsatellites reveal high outcrossing rates and multiple paternity in eelgrass Zostera marina.

The mating system was examined in two annual populations of eelgrass (Zostera marina), a marine angiosperm displaying subaqueous pollination. Multilocus genotyping using microsatellite DNA markers allowed the assessment of the pollen source based on single progeny as units of observation. Outcrossing was detectable by the presence of non-maternal alleles at one or more of the loci. In outcrossing cases, three microsatellite alleles were present in unripe seeds, consisting of both maternal alleles and the paternal allele composing the triploid primary endosperm. In ripe seeds, only the diploid embryonal genotype was amplifiable by PCR. Two intertidal populations situated in the German Wadden Sea were almost entirely outcrossing (t +/- SE 0.96 +/- 0.03, N=60 and 0.97 +/- 0.029, N=37). Because of the high polymorphism displayed by the eight chosen microsatellites, representing a total of 69 and 76 alleles, the likelihood of erroneously inferring selfing was small (alpha=0.0026 and 0.0007). In order to study the correlation of paternity, the coefficient of relatedness was determined within sibships. Relatedness (r +/- SE) was calculated as 0.357 +/- 0.059 and 0.343 +/- 0.037, indicating multiple paternities within inflorescences. Small amounts of tissue (< or = 0.1 mg) such as the developing seeds of recently fertilized ovules, were sufficient for PCR-amplification. Hence, PCR-based methods, such as multilocus microsatellite genotyping, allow the detection of pollen origin early in the development of progeny. They will be useful to distinguish postfertilization processes such as selective abortion and germination from other prefertilization determinants of plant mating systems.

Crosses, Genetic↗

[Higher order multiple births in the course of time].

There has been an increase of multiple births since 1980. 601 families with multiples were interviewed. The answers from 289 mothers with multiples indicate, that, nowadays, in the majority of cases treatment with fertility drugs is the cause. Most of these pregnancies end too early. Moreover, the average time of gestation and the median birth weight of the children decline from year to year. The rate of dead or disabled children is high. Nevertheless, we know many happy families with healthy multiples. Nobody can predict the result of a multiple gestation. For this very reason, selective abortions are not the solution to the problem. Extreme caution is advised in the use of hormones to avoid inducing a pregnancy with higher order multiples.

Birth Weight↗

Is it wrong to deliberately conceive or give birth to a child with mental retardation?

This paper discusses the issues of deciding to have a child with mental retardation, and of terminating a pregnancy when the future child is known to have the same disability. I discuss these problems by criticizing a utilitarian argument, namely, that one should act in a way that results in less suffering and less limited opportunity in the world. My argument is that future parents ought to assume a strong responsibility towards the well-being of their prospective children when they decide to reproduce. The moral point in cases in which our acts affect the well-being of future children should be expressed strictly in terms of parents' culpability. Future children thus do not have current moral standing but presently living persons have current obligations to consider the presumable effects of their actions on future people. I will also argue that there are morally significant differences between 'selective contraception' and selective abortion.

Abortion, Eugenic↗

Discriminate biopower and everyday biopolitics: views on sickle cell testing in Dakar.

Many physicians in Senegal and France, where most Senegalese sickle cell specialists are partially trained, assume that genetic testing that could imply selective abortion for people with sickle cell would run counter to the religious and cultural ethics of people living in Dakar. Senegalese affected by this genetic disease, however, often cite "traditional" rationales to indicate why such testing, if offered, might appeal to them. The reluctance of medical practitioners to entertain such testing technologies for their patients evinces a protectionist attitude toward care--an attitude that emerges within a context in which family planning and a blind concentration on HIV/AIDS have created a public health system that completely overlooks sickle cell anemia. This discriminate biopower leaves everyday biopolitics largely in the hands of families faced with this disease. It falls to them to pragmatically calculate the value that genetic testing may, or may not, hold for their own lives.

Abortion, Eugenic↗

Intracytoplasmic sperm injection pregnancy with fetal trisomy 9p resulting from a balanced paternal translocation.

Infertile men who carry a chromosomal translocation can be successfully treated with intracytoplasmic sperm injection (ICSI). However, such treatment carries a risk that a pregnancy with an abnormal karyotype will be induced. While in all previously published cases the outcome was favourable, we here report the first instance of a parental reciprocal translocation leading to a chromosomally unbalanced ICSI pregnancy. The fetus, one of a pair of dizygotic twins, was found to have trisomy for the short arm of chromosome 9. The parents opted for selective abortion of the affected twin.

Amniocentesis↗

Right not to know or duty to know? Prenatal screening for polycystic renal disease.

New dimensions in different ethical scenarios following genetic information require new medical-ethical Action Guides for physician-patient interaction. This paper discusses the ambiguity in moral choice between a "right not to know" and "a duty to know", regarding parental decision-making pro or contra selective abortion following prenatal screening for autosomal dominant polycystic kidney disease (Potter III) and related public policy issues.

Abortion, Legal↗

Costs and benefits of prenatal screening for cystic fibrosis.

New tests promise to facilitate the prenatal detection of cystic fibrosis (CF), a fatal genetic disorder. This study examines the costs and benefits of prenatal screening and selective abortion using two types of tests: those based on restriction fragment-length polymorphisms (RFLPs), which can only be applied when genetic material is available from a CF-affected family member; and those based on probes for the newly discovered CF gene, which can be applied in the general population. When either type is applied in families of CF-affected children, even an expensive test produces substantial net benefits. Existing direct gene probe tests are not sensitive, although eventually they may become less expensive and more accurate than tests based on RFLPs. Even if these tests become highly accurate, the financial benefits of population-wide screening for CF are likely to be small or negative, particularly if testing does not lead to increases in the number of normal children as it decreases the number of births of CF-affected children. Because few children born in families without a history of CF have the disease, tests that are not perfectly specific will produce a large number of false-positive results, leading to the abortion of many normal fetuses.

Costs and Cost Analysis↗