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Is a national program to prevent sickle cell disease possible?

There is no specific therapy for sickle cell disease, and there is no evidence that sickle hemoglobin screening by conventional methods will lead to a significant reduction in the number of children with sickle cell disease. Thus it follows that if there is to be a national program to prevent sickle cell disease, the only recourse is one based on prenatal diagnosis and selective abortion of affected embryos or fetuses. Present-day dire poverty and callous health care public policies lead to the inescapable conclusion that a concerted attempt to alleviate poverty and its consequent adverse effects on maternal, neonatal, and infant mortality should take precedence over, or at the least coincide with, a national program to prevent sickle cell disease. On the other hand, it is argued that a woman should have the right to decide whether or not she wishes to have a child with a genetic disorder, and that recent advances in research on prenatal diagnosis, particularly when supported by public funds, should be made available to all, and not just the affluent.

Abortion, Induced↗

Brooding and the evolution of parthenogenesis: strategy models and evidence from aquatic invertebrates.

Developmental defects are expected to be common and severe in the early evolution of parthenogenesis, and they could help to explain the predominance of sexual forms of reproduction. It is difficult, however, to see how such defects might explain the ecological and phylogenetic correlates of sex. Here we suggest that internally fertilized animals that brood their young may be more susceptible to invasion by parthenogenetic mutants. The reason is that brooders could establish 'selective arenas' in which developmentally defective embryos are competitively displaced. Brooders could also selectively abort defective embryos, and replace them with minimal cost. Consistent with these ideas, we found a striking association between brooding and parthenogenesis in aquatic invertebrates. For example, in the Cnidaria and Mollusca, parthenogenesis is significantly more common in lineages that retain their young through the early stages of development. Hence brooding and ecological factors (such as escape from parasites) might combine to explain the initial spread, long-term persistence, and phylogenetic distribution of parthenogenetic reproduction.

Animals↗

Perception of burden among at-risk women of raising a child with fragile-X syndrome.

On a self-administered questionnaire 31 women at-risk for bearing children with fragile-X syndrome (FXS) were asked to judge the magnitude of the problems they perceived to be associated with raising an affected child. An age- and education-matched group of women with no family history of FXS was asked to predict the seriousness of problems they might encounter were they to bear a child with a handicapping condition. Mothers of children with FXS reported that they were experiencing fewer and different problems than FXS relatives who did not have affected children predicted they themselves would experience. The perceptions of the burden of raising a handicapped child of FXS relatives without affected children were more similar to those of the comparison group than to those of FXS mothers. This suggests that women who raise a child with FXS learn to cope with an unchangeable situation, and consequently their perceptions of the burdens ease with time. A direct relationship between the acceptability of selective abortion and the perceived seriousness of the problems associated with having an affected child was observed.

Abortion, Spontaneous↗

Alpha thalassaemia hydrops fetalis in the UK: the importance of screening pregnant women of Chinese, other South East Asian and Mediterranean extraction for alpha thalassaemia trait.

OBJECTIVE: Alpha zero (alpha 0 or alpha-1) thalassaemia is an important genetic risk for women originating from Hong Kong, Singapore, Vietnam, Thailand, the Philippines or South China. Cypriots are also at risk. Carriers of alpha zero thalassaemia trait can be detected by routine haemoglobinopathy screening. When a couple are both carriers, in each pregnancy there is a 25% risk that the fetus will have alpha thalassaemia hydrops fetalis; this is fatal for the fetus and carries serious obstetric and psychological risks for the mother. Most informed couples at risk request prenatal diagnosis and selective abortion. This study investigates the effectiveness of screening, counselling and prenatal diagnosis for alpha thalassaemia hydrops fetalis in the UK. DESIGN: Retrospective analysis of the notes. SUBJECTS: 18 couples attending University College Hospital London for prenatal diagnosis of alpha thalassaemia hydrops fetalis since 1982. RESULTS: The study shows underdiagnosis of both alpha zero thalassaemia trait and alpha thalassaemia hydrops fetalis leading to avoidable stillbirths and complications in pregnancy. CONCLUSION: We recommend early screening for alpha zero thalassaemia trait for all women of Southeast Asian or eastern Mediterranean origin and the offer of prenatal diagnosis when indicated. The diagnosis of alpha thalassaemia hydrops fetalis should be considered in women of the relevant ethnic origin who have a stillbirth, neonatal death, abnormal ultrasound findings at fetal anomaly scanning (especially a large placenta), or who develop pre-eclampsia.

Abortion, Spontaneous↗

High sex ratios in China's future.

In China in recent years, male live births have exceeded those of females by amounts far greater than those that occur naturally in human populations, a trend with significant demographic consequences. The resulting imbalance in the first-marriage market is estimated to be about 1 million males per year after 2010. These "excess" males were not easily accommodated in models with substantial changes in first-marriage patterns. The current sex ratio at birth has little effect on a couple's probability of having at least one son, so future increases in the sex ratio may well occur, especially given increasing access to sex-selective abortion.

China↗

Social effects of genetic counselling.

In a follow-up study of 104 subjects referred for genetic counselling between 1965 and 1969 all were at risk of having children with a variety of serious genetic disorders. Most subjects were in social classes III and IV, were married, in their late 20s, and already had an affected child. Sixty-three per cent. were referred by hospital consultants, 27% by their general practitioners, and 10% were self-referrals. All of those counselled appeared to have appreciated the genetic implications, although four overestimated the risks and 11 underestimated the risks.Of those at high risk (greater than 1 in 10) of having an affected child 10 out of 55 couples "planned" further pregnancies despite the risks. In two this was because they had been unable to adopt a child, in four because they had no living children and the disorders in question usually resulted in stillbirth or death in infancy so that the "burden" of an affected child would be of relatively short duration, and one mother had had antenatal diagnosis and selective abortion. Most of the couples in the low-risk group (less than 1 in 20) were reassured and planned further pregnancies.

Adolescent↗

Frequency of births with potentially avoidable serious chromosomal anomalies in EEC countries, 1979-1982.

Child bearing at an early age and prenatal cytogenetic diagnosis in pregnant women of advanced age, combined with selective abortion, make it possible to avoid the birth of many children with serious chromosomal anomalies. To see how many of such births were still avoidable in Europe, data from 16 regional EUROCAT registers of congenital anomalies in nine EEC countries were analysed. In the period 1979-1982 about 30% of children with unbalanced anomalies of autosomes were born (live- and still-births) to mothers over 35 years of age. This amounts to an estimated 1300 cases yearly in the entire population of the nine countries. The approach shows the possible use of registry data for monitoring effects of avoidance strategies.

Chromosome Aberrations↗

The products of conception: the social context of reproductive choices.

This paper addresses the changing ideology regarding reproduction, an evolving American, and potentially worldwide, value system regarding children and parenthood. Children are increasingly being seen as products, and the new technology of reproduction, including the sale of reproductive material and services and especially prenatal diagnosis and selective abortion, encourage this commodification of the fetus. While the new technology does indeed offer new choices, it also creates new structures and new limitations on choice. In the contemporary American social structure, these choices are inevitably couched in terms of production and commodification, and thus do not offer individuals genuine choice or control.

Abortion, Induced↗

Persistence of Mediterranean anaemia in Sicily.

We report 40 cases of homozygous beta thalassaemia, aged between 3 and 24 months, who were observed between January 1990 and June 1996 at the Thalassaemia Centre, Paediatric Department, Catania University. A questionnaire was used to find out the parents' knowledge of their risk before the birth of the affected children and showed that the persistence of Mediterranean anaemia in Sicily was mainly because of the following reasons: (1) poor information (62.5%), (2) laboratory error (12.5%), (3) difficulty in the differential diagnosis of beta thalassaemia trait (10%), and (4) not performing prenatal testing or selective abortion of an affected fetus (15%). We conclude that improved preventive measures at various medical and social levels can remove risk factors and so further reduce the incidence of Mediterranean anaemia in Sicily.

Genetic Counseling↗

Sex ratio of triplet births in Japan.

The effects of paternal and maternal ages, gestational age and the socioeconomic factor of occupation on the sex ratio of triplet individuals were analysed using data on 4,290 triplet individuals which occurred in Japan during the period from 1955 to 1967 and in 1974. The sex ratios among live births and fetal deaths slightly decreased with time. The decline of the sex ratio was related to the decline of age-specific fertility in older mothers. The mean sex ratio was 0.479 during the period. The sex ratio is not high but similar to those of Europe and the USA. The sex ratio was lower in triplets than in twins or the general population. It seems that predominant male triplets may be selectively aborted in early gestational age compared with that of twins or the general population.

Adult↗

Ethical issues in intrauterine diagnosis and therapy.

This essay considers ethical problems raised by recent developments in intrauterine diagnosis and therapy. Diagnostic and therapeutic innovations applicable to the previable fetus and to the possibly viable or viable fetus are briefly described. A central ethical issue prior to viability is whether intrauterine therapy for fetal health problems should be attempted or whether selective abortion should be chosen as an alternative. Beyond viability, an important question is the extent to which a pregnant woman is morally obligated to accept risks to her own life or health for the sake of the fetus.

Congenital Abnormalities↗

'Collective fictions': similarities in reasons for accepting maternal serum alpha-fetoprotein screening among women of diverse ethnic and social class backgrounds.

We analyzed the decisions of an ethnically and socioeconomically diverse group of women to accept or refuse a prenatal diagnostic test. We found that how women were informed about the test and the kind of information they were given determined their decisions more than their ethnic or social class background. To explain this, we argue that the women and their health care providers created a 'collective fiction' which situated the testing within the domain of routine prenatal care and denied its central connection to selective abortion and its eugenic implications.

Abortion, Eugenic↗

Highest concentrations of prorenin and human chorionic gonadotropin in gestational sacs during early human pregnancy.

Prorenin is not only the biosynthetic precursor of renin; under certain circumstances in vitro prorenin exhibits reversible intrinsic renin activity and can form angiotensin from renin substrate with or without cleavage of the prosequence. Prorenin is the predominant form of renin synthesized by reproductive organs (ovary, chorion laeve of the placenta, uterine decidua). Its plasma concentrations increases 10-fold throughout pregnancy to 10-100 times that of renin; amniotic fluid prorenin concentration is even higher. No data are available of gestational fluid prorenin concentrations during early pregnancy. For the first 10 weeks there are two gestational cavities; the chorionic cavity then disappears and the smaller amniotic cavity becomes predominant. In this study we measured prorenin, renin, renin substrate and hCG in fluid aspirated from gestational sacs during the first trimester of gestation (predominantly chorionic) and during the second and third trimesters (amniotic). Seventeen patients had amniocentesis during the second or third trimester. Nine patients underwent selective abortion of multiple pregnancy at 7-12 weeks gestation. One patient underwent surgery at 5 5/7 weeks (26 days after conception) for a tubal pregnancy. Second and third trimester amniotic fluid prorenin maximum velocity (Vmax) (16 and 3 sacs, respectively) averaged 6,100 +/- 1,700 (SD) and 1,930 +/- 760 ng/mL.h, respectively (i.e. 1,700 and 540 ng/L.s). In gestational fluid collected before 8 weeks, prorenin Vmax was 10-fold higher, averaging 62,500 +/- 40,000 ng/mL.h (17,000 ng/L.s). The concentration was 140,000 ng/mL.h (39,000 ng/L.s) in the 5 5/7 week tubal pregnancy. In sharp contrast, at 10-12 weeks gestation (n = 3) prorenin Vmax was only 260 +/- 114 ng/mL.h (72 ng/L.s); human CG was also highest before 8 weeks (276,500 +/- 110,900 IU/L) and lowest at 10-12 weeks (1210 +/- 540 IU/L) with intermediate levels occurring later in pregnancy. This study shows that the highest biological levels of prorenin yet detected (close to 1 micrograms protein/mL) occur in gestational sacs in early pregnancy, consistent with a role for the renin-angiotensin system in embryonic development or placentation.

Amnion↗

The resistible rise of preventive medicine.

The politics of preventive health care have changed dramatically in the last fifteen years. In the late 1960s and early 1970s, prevention was the motherhood issue of health care reform. With only the slightest glimmer of controversy, vaccination, promotion of lifestyle changes, mass screening, and safety regulation all became widely accepted strategies for improving health and reducing medical expenditures. By the mid-1980s, the dark side of each strategy became visible. Vaccinations can cause serious and permanent injuries; lifestyle factors are being used to raise insurance premiums, to deny eligibility for disability insurance benefits, and to deny employment. Screening is similarly used to deny employment, and new technologies for prenatal screening have raised fears of stigma and selective abortion among racial, handicapped, and antiabortion groups. Occupational safety regulation is increasingly focused on excluding the "high-risk" individual from jobs. In the absence of social protections from these economic and social harms, citizens have used tort and civil rights litigation to resist preventive health measures.

Health Promotion↗

Congenital disability and medical research: the development of amniocentesis.

The action imperative inherent in amniocentesis, one that emphasizes the detection and selective abortion of disabled fetuses, exerts a powerful influence on women's decisions to undergo prenatal diagnosis. In this paper, the construction of this imperative is considered through an examination of medical research that contributed to the development and clinical practice of amniocentesis. It is argued that this research reflects medical judgments about socially "undesirable" human attributes, professional interests, and individual, technical solutions to the "burden" of congenital disability. The necessity to consider the implications of this technology within both a feminist and disability rights framework is discussed.

Abortion, Therapeutic↗

Understanding women, health, and social change: the case of South Korea.

Since the 1960s, South Korea has experienced rapid economic development and an improvement in the health of its population. During this period there have been marked increases in women's educational and occupational opportunities. But despite these improvements, women still suffer higher levels of gender discrimination than their counterparts in many other countries at similar stages of development. Most dramatically, there are still high levels of sex-selective abortion. Women have lower socioeconomic status than men, and their lives are markedly restricted by the cultural values associated with Confucianism. This article explores the effects of these factors on women's health. Despite their greater longevity, South Korean women still report higher rates of morbidity and distress than men. This can be compared with the "gender paradox" in health reported in many developed countries during the 1970s and 1980s. More detailed research is needed on the factors influencing the health of South Korean women and on related trends in other newly industrializing Asian societies.

Adolescent↗

Ethical issues in genetic intervention.

Genetic interventions, such as amniocentesis or selective abortion, present ethical dilemmas that may conflict with social work values. The author discusses the psychosocial implications of these procedures, focusing on such concepts as genetic health, parents as consumers, and privacy of genetic information.

Abortion, Legal↗

Created equal? The moral challenge of prenatal diagnosis.

Prenatal diagnosis, as currently practiced in close linkage with selective abortion, poses a moral challenge of many dimensions. The challenge is moral because it brings into question values that have long served as the normative basis for human reproductive behavior. A moral policy is needed to match this challenge, a policy that will promote the development of effective therapy and the emancipation of the early emerging human spirit.

Canada↗