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Attitudes toward genetic testing among the general population and relatives of patients with a severe genetic disease: a survey from Finland.

In the present study we explore the attitudes of the Finnish population toward genetic testing by conducting a questionnaire study of a stratified sample of the population as well as of family members of patients with a severe hereditary disease, aspartylglucosaminuria (AGU). The questionnaire evaluated attitudes toward gene tests in general and also respondents' preparedness to undergo gene tests for predictive testing, carrier detection, prenatal diagnosis, and selective abortion, in theoretical situations. The results of the study indicate that both the Finnish population in general and family members of AGU patients have a favorable attitude toward genetic testing. However, a commonly expressed reason against testing was that test results might lead to discrimination in employment or insurance policies. Based on the responses, we predict that future genetic testing programs will most probably be met with a high acceptance rate by the Finnish population.

Adolescent↗

Five decades of missing females in China.

This paper seeks to explain the dearth of females in the population of China in cohorts born from the late 1930s to the present. We demonstrate that in virtually all cohorts, the shortage of females in comparison with males is revealed when the cohort is first enumerated in a census. Subsequently it barely changes, an indication that female losses occur very early in life. Using the high-quality data from the censuses and fertility surveys in China, we show that many of the births of the girls missing in the censuses were not reported in the surveys because they died very young. The incidence of excess early female mortality (probably infanticide) declined precipitously in the Communist period, but not to zero. The recent escalation in the proportion of young females missing in China has been caused largely by rapidly escalating sex-selective abortion.

Abortion, Legal↗

Evaluation in patients with Alport syndrome of knowledge of the disease and attitudes toward prenatal diagnosis.

Cloning of the COL4A5 gene has now made possible prenatal testing for Alport syndrome with X-linked dominant inheritance. We interviewed 27 females and 24 males with Alport syndrome to evaluate their knowledge of the disease and its transmission, and their attitudes to prenatal testing. Twenty-two males and 8 females were on renal replacement therapy. In all cases transmission was compatible with X-linked disease. Only 59% of the interviewees (74% of women, 42% of men) knew that gender was the major determinant in progression of the disease. Knowledge of the mode of inheritance was adequate in only 25%, in both sexes. Seventy percent of the participants (78% of women, 63% of men) would use prenatal testing. Of the women in favor of prenatal diagnosis, 67% and 39% would terminate pregnancy in the case of an affected male or female fetus, respectively. Of the men in favor of prenatal diagnosis, 53% would consider termination of an affected fetus. In summary, a majority would use prenatal testing, but only one or two thirds of them wished to use selective abortion. As in other inherited disorders, there is a discrepancy between the demand for prenatal diagnosis and the decision to terminate pregnancy. Most of the participants who would terminate a pregnancy had, however, little knowledge of the clinical and genetic aspects of Alport syndrome on which to base such a decision. An important aspect of genetic counselling is to assist consultants in reaching a decision regarding future reproductive behaviour which is appropriate to their situation. This study underlines the need to improve education and counselling to assure appropriate use of prenatal testing.

Abortion, Eugenic↗

A medical paradox: curative versus preventive medicine.

A familiar medical contrast is presented as part of a modern medical problem. The problem it reflects is the relative importance of preventive and curative services for medical practitioners, which is already, or will shortly resolve itself into, a dilemma of whether medical men should stress preventive medicine to the possible detriment of curative medicine. It is submitted that the solution to both problem and dilemma should be sought against the background of history and philosophy, where they are seen to be expressions of an eternal paradox--that of the relative value of the individual in relation to the family, group, or community. If the submission is valid, then the answer to the problem is not a purely medical exercise, nor is the dilemma purely a 'doctor's dilemma'. The paradox, being eternal, is not soluble in our time, but the community must, on the urging of the medical profession, find a general solution to the problem--'a public consensus for out time'. This must be followed by public demand for a parliamentary solution--'decision-making ex consensus'. It is argued that although the latter programme does not come easily to democracy, it can be achieved through public consensus if action is taken by the leaders of thought in appropriate categories. Initiative must be exercised by the medical profession, but public consensus can only be achieved in consultation with the leaders of all learned professions, civil servants and legislators. It must then be presented fairly and without bias to the public. In the meantime, the medical profession must formulate its own 'medical consensus' and the doctor must resolve his personal dilemma according to formulated law, public or medical consensus or, in the last resort, according to his conviction and conscience. This method of solving a problem will almost certainly be applicable to other and more recent medical problems such as the population explosion, selective abortion and euthanasia.

Ethics, Medical↗

Amplification of beta-globin gene from single blastomeres.

Prenatal diagnosis of beta-thalassemia can be performed by chorionic villus sampling as early as the ninth gestational week, and early amniocentesis within 12 weeks of gestation. Selective abortion or termination should be suggested if the fetus is affected. With polymerase chain reaction (PCR) and micromanipulation techniques, the preimplantation diagnosis of beta-thalassemia has become possible. A total of 60 single blastomeres were collected and equally divided at random into two groups. Eight DNA primers (A to H) were designed for 15 mutations of beta-thalassemia in Chinese people. Two beta-globin gene fragments (602 bp and 423 bp) were amplified by PCR through two sequential reactions with two sets of primers (A+B and C+D, E+F and G+H), respectively. The amplified products were confirmed by Southern blotting with DNA probes hybridization. The amplification rates were 54% (16/30) and 60% (18/30), respectively. All of the positive and negative controls showed the presence or absence of amplification, respectively. Our study provides a possible approach for the preimplantation diagnosis of beta-thalassemia.

Base Sequence↗

Tay-Sachs disease screening and prevention in South Africa.

Tay-Sachs disease is potentially preventable in Ashkenazi Jewish communities. About 1 out of 25 individuals is a carrier of the gene and can be accurately identified by means of a simple, inexpensive blood test. 'At risk' couples, i.e. couples of whom both partners are carriers, can be enabled, by means of prenatal diagnosis and selective abortion, to have only unaffected children. Mass screening programmes have been successfully carried out in the USA, Canada and Israel. A discussion of South African Jewish deomgraphy, attitudes to health, and priorities for public health projects, provide the background to a consideration of Tay-Sachs disease prevention in South Africa.

Attitude to Health↗

The role of secondary sex ratios in the declining sex ratio of India.

The sex ratio in India has been gradually declining since the beginning of this century during the intercensus period of 1981-91, this ratio declined from 933 to 929. In the past the difference in sex ratios was wholly attributed to higher mortality amongst the females. However date for the years 1990-92 on secondary sex ratios i.e. sex ratio at birth presented in this paper suggest that the difference in sex ratio can also be attributed to a statistically significant higher number of males being born most probably as a result of selective abortion of female fetuses.

Adult↗

[Bioethics on DNA diagnosis].

Through the applications of medical genetic knowledges, early diagnosis, neonatal screening, prenatal diagnosis followed by selective abortion, carrier detection and genetic counselling has become more effective. Since 1960, we performed over 3,500 cases with its followup study in Kyoto, Aichi, and Fukui, according to guidelines emphasizing non-directive counselling, informed consent, autonomous decision-making and confidentiality. New bioethical problems using DNA diagnosis has been arisen on justification of presymptomatic diagnosis of trinucleotide repeat diseases, carrier detection of thalassemia as well as possibility for genetic discrimination, susceptibility and testing. We should provide knowledges of science and technology with bioethical considerations, in order to protect the human genome and right as well as biosphere, as shown in the activities of IBC, UNESCO and MURS.

Bioethics↗

On what grounds do women participate in prenatal screening?

Along with the rapid biomedical development of prenatal screening tests, target groups' attitudes and decision-making about, and the acceptance of, screening procedures have come into focus. To understand users' decision-making, it is essential to understand users' knowledge and perceptions of a procedure. The aim of this study was to examine Finnish women's knowledge and perceptions of, and stated reasons to participate in, two prenatal screening tests: serum screening and mid-trimester ultrasound screening. Subjects (n=1035) for the serum screening survey were catered for in the maternity care centres of two Finnish towns, where serum screening is available for all pregnant women. After one reminder, 88 per cent returned the questionnaire. Subjects (n=497) for the mid-trimester ultrasound screening survey were catered for in the obstetrical and gynaecological outpatient clinic of the city hospital of another town; the response rate was 85 per cent. Women's perceptions of the studied prenatal screening tests, serum screening and mid-trimester ultrasound screening, differed significantly, even though both are used to detect fetal malformations. Serum screening was far more often perceived to be connected with finding diseases or abnormalities than ultrasound screening. Another interesting finding was that the stated reasons for screening in general and the subjective reasons for participation were different. Reassurance was the personal reason most often mentioned in both the serum screening and the ultrasound group. Almost all women had the most superficial knowledge about serum screening; they knew whether it had been offered and that it is done to screen for Down syndrome. The greatest gaps in knowledge concerned the sensitivity of serum screening, its use in screening for congenital nephrosis, and diagnostic tests and their risks. Knowledge was poorer among women without a high school education. When counselling women about prenatal screening tests, more emphasis should be given to the sensitivity of serum screening, all of its screening uses, and the possible diagnostic tests and their risks. The fact that ultrasound screening can detect conditions which may lead to the possibility of a selective abortion should also be explained more fully.

Amniocentesis↗

Preimplantation diagnosis of single disorders.

Preimplantation diagnosis of inherited and chromosomal diseases provides an option for couples at risk for conceiving genetically abnormal fetus to avoid a birth of an affected child without the need for a prenatal diagnosis and selective abortion of affected fetus (1-3). In some countries this might be the only way to the prevention of genetic disease, as abortion is not acceptable procedure. Even in those countries where prenatal diagnosis is practiced for many years, there is also concern that existing genetic programs based on prenatal screening will lead to increasing number of abortions. On the other hand, the possibilities for genotyping oocytes and cleaving embryos open a new prospect for genetic diagnosis before pregnancy, making genetic programs more ethically acceptable in any social setting. This will make preimplantation diagnosis the method of choice in the community based programs for prevention of genetic disease in the future, as well as a useful addition to assisted reproduction technologies, at least for IVF patients of advanced maternal age.

Female↗

Novel aberrant nuclear behavior in abortive conjugation of Tetrahymena thermophila: joint selection of a meiotic product and macronucleus during nuclear selection.

In conjugation of Tetrahymena thermophila, the paroral zone, cortical cytoplasm in the vicinity of the cytostome, is the site where nuclear selection occurs; one of the four meiotic products is selected in this site prior to the production of gametic pronuclei. During inbreeding cross experiments, several sterile strains were obtained which showed aberrant nuclear behavior. Conjugants of these strains normally underwent meiosis, resulting in the generation of four meiotic products. They, however, failed to complete the process of nuclear selection and aborted the subsequent conjugation sequences. During nuclear selection, macronucleus was frequently selected instead of a meiotic product. A novel aberrant nuclear behavior was observed: Macronucleus and a meiotic product were jointly selected and the both nuclei simultaneously attached to the same paroral zone. When this simultaneous attachment occurred in one partner cell of a pair, nuclear selection was never observed in the other partner cell. This result suggests that a conjugating pair has only two attachment sites on the paroral zone during nuclear selection, and that the distribution of the sites is occasionally distorted in abortive conjugation.

Animals↗

[Methods of natural and voluntary sex selection. Value for the prevention of sex-linked malformations and of certain recurrent abortions].

Voluntary selection of the sex of a foetus may have an undeniable value in the prevention of certain diseases of malformations which are sex-linked. An indirect statistical control of the efficiency of these methods was carried out on 100 sterile treated couples. These couples agreed to respect a certain number of parameters which constitute the methods of voluntary selection of the sex of the foetus. Under these conditons and taking care that we were dealing only with cases where the sperm cell count was normal, the results were positive in 77%. It is probable the the results would have been above 80% if the parameter of the low pH of the vagina had been used as well. Attention was then directed to the possibility of using these methods to prevent certain sex-linked congenital malformations on the one hand (a classical idea) and prevention of certain repeated abortions on the other hand (a less well accepted idea). Three characteristic case histories have been reported to support these hypotheses.

Abortion, Spontaneous↗

Pain management of first-trimester surgical abortion: effects of selection of local anesthesia with and without lorazepam or intravenous sedation.

OBJECTIVE: This prospective observational study compared the effectiveness and acceptability of three commonly used regimens to reduce pain during first-trimester surgical abortion with local anesthesia. METHOD: Women undergoing suction curettage at less than 14 weeks gestation received preoperative ibuprofen and an intraoperative paracervical block. Participants then selected (1) no additional medication (local arm), (2) sublingual lorazepam (0.5 to 1 mg, approximately 20 min preoperatively) or (3) intravenous sedation with fentanyl and midazolam (doses from 50 to 125 microg of fentanyl and 1-2 mg of midazolam). Our primary outcome was intraoperative pain as measured on an 11-point verbal rating scale (0=no pain and 10=worst pain ever). RESULTS: Three-hundred thirty women were enrolled, 105 chose local, 106 opt for lorazepam and 119 picked intravenous sedation. Mean pain scores were 6.2 for local, 6.8 for lorazepam and 5.7 for intravenous sedation. Increased preoperative anxiety, depression and expected pain and a lower volume of local anesthesia used (10 mL vs. 20 mL) were positive predictors of intraoperative pain. Using multivariable analyses to control for these confounders, plus gestational age, alcohol use and body mass index, intravenous sedation was associated with a 0.86 point lower pain score (p<.005), and the local and lorazepam groups were not significantly different. Compared with the referent group (local), participants who received lorazepam were significantly less satisfied with pain control (23.8% vs. 6% unsatisfied; OR=1.93, 95% CI=1.13 to 3.26). CONCLUSION: In women who self-selected their type of anesthesia, intravenous sedation using fentanyl and midazolam decreased pain with suction curettage under local anesthesia. Sublingual lorazepam as studied did not decrease pain compared with local anesthesia alone and was associated with more dissatisfaction with pain control.

Abortion, Induced↗

Induced abortion and placenta complications in the subsequent pregnancy.

BACKGROUND: To study the risk of placenta complications following an induced abortion as a function of the interpregnancy interval. METHODS: This study is based on three Danish national registries; the Medical Birth Registry, the Hospital Discharge Registry, and the Induced Abortion Registry. All primigravida women from 1980 to 1982 were identified in these three registries. A total of 15,727 women who terminated the pregnancy with a first trimester induced abortion were selected to the abortion cohort, and 46,026 women who did not terminate the pregnancy with an induced abortion constituted the control cohort. By register linkage all subsequent pregnancies were identified from 1980 to 1994. Only women who had a non-terminated pregnancy following the index pregnancy were selected to the study. Placenta complications were identified using either the Hospital Discharge Registry ICD-8 codes or the Medical Birth Registry records. RESULTS: A slightly higher risk of placenta complications following an abortion was found. Retained placenta occurred more frequently in women with one, two or more previous abortions, compared with women without any previous abortion of similar gravidity. Adjusting for maternal age and residence at time of pregnancy, the interpregnancy interval, and the number of previous miscarriages (control cohort only), the odds ratios of retained placenta in deliveries of singleton live births in women with one previous abortion was 1.17 (95%CI=1.02-1.35), and for women with two or more previous abortions it was 1.68 (95%CI=1.23-2.30), respectively, compared with the control cohort of similar gravidity. Only for women who had one abortion did the results follow the predicted pattern of a higher risk of retained placenta after a short pregnancy interval. No association with placenta previa was seen. CONCLUSIONS: The findings suggest a positive association between abortions and retained placenta in subsequent singleton live births, but the association was weak and confounding cannot be ruled out.

Abortion, Induced↗

On teaching biopolicy and values in selected reproductive technologies: abortion, in vitro fertilization, and surrogate motherhood.

This article is divided into three parts: "Faculty Preparation: Immersion in the Literature," "Conceptualizing and Organizing the Course," and "Course Design." The first part is addressed particularly to readers without access to a computer search of the literature. It suggests resource materials for each of the technologies. It also speaks to the meanings of and approaches which may be used to study biopolitics. Biopolicy is the approach used in the course. The second part addresses the problem of finding a unifying concept which would bring cohesion to the multiple and diverse materials and issues. It also includes the statement of purpose and course objectives. It is here that the development of identifying and demonstrating the nexus between the reproductive technologies and public policy begins. It also discusses methodologies used in the course. The third part lists the activities that served as a guide in designing the course and cites remaining caveats in course development. The paper concludes with statements about required reading materials, review materials, audio-visual aids, and a broad outline of the course.

Abortion, Induced↗