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PubMed2000

[Overview of basic approaches in assessing the moral status of the human embryo].

The introduction of in vitro fertilization in 1978 provoked a broad debate about the ethical problems of technological intervention on the human reproduction. It is obvious, that the issue of whether the human embryo is or is not a person seems to be most important in current debates on the morality of selected abortion, cryopreservation and embryo experimentation. The seeking of the moral status of embryo addresses this fundamental question in a multidisciplinary manner. It is clear, that the philosophical or ontological approach to the embryo has a direct bearing upon a practical issues. This work deals with the moral status of embryo. The author claims, that we can establish his or her moral status by two different way. First it is a substantial approach. Then the embryo is the person since the conception. Second is the historical approach. Then the person is a concept of human being, that is unintelligible apart from social and historical context. But when we are not sure whether embryo is a person or not, it is wise to treat the embryo like a person.

Embryo, Mammalian↗

PubMedDate not supplied

A biography and bibliography: the recent trends in bioethics and medical genetics in Japan (Part II).

At the present, we have much misunderstandings and prejudices, connected with psychological conflicts for the direct application of cloning and of prenatal diagnosis and selective abortion. So that we should have much debates among general public on further direction of these researchs, in order to study on safe-guard and public understandings. Summarinzingly, in order to educate general public in their understanding of ELSI problems, we should remove the boundaries between individuals, in professional and non-professional fields, and in developed and developing countries, and give more time for medical curriculum for medical genetics and bioethics, in order to educate general public, as well as scientific responsibility in our society. Finally, we hope these recommendations and reports will help the International Bioethics Seminars in Fuki on 2000 for the follow up study on Universial Declaration of Human Genome and Rights, with new technologies on pharmacogenomics DNA polymorphisms as well as our ethical debates on international research ethics, proposed at the International Bioethics Summit.

Bioethics↗

PubMed2001

[Individual genetic counseling and collective screening strategies in particular at-risk populations].

Carrier screening for recessive disorders together with prenatal diagnosis offered in at risk pregnancies can achieve efficient prevention of genetic diseases occurring with particularly high frequencies in specific populations. In this context, genetic counseling, which should be available to each at risk couple, must be integrated into a more elaborate framework geared towards informing the target population. Dramatically different outcomes of carrier screening programmes implemented in the past illustrate the conditions for success or failure. The need to target selected ethnic groups accounts for most of the problems encountered: underpriviledged minorities, risk of discrimination and, most importantly, cultural gaps leading to refusal of prenatal diagnosis and/or of selective abortion. In order to achieve prevention through screening programmes, the tests should therefore be preceded by dissemination of adequate information into the target population, followed by genetic counseling for at risk couples, addressing cultural differences. Prenatal diagnosis should always be proposed, but never imposed on these couples. Finally, these screening programmes must be underpinned by comprehensive subsidies covering not only the tests but also education and counseling that should always be provided with the tests. In terms of public health, this is the price for a cost-effective genetic screening programme.

Abortion, Therapeutic↗

PubMed2001

A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom.

OBJECTIVE: To demonstrate the value of a national register for surveillance of services for an inherited disorder. METHODS: Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with beta thalassaemia major, beta thalassaemia intermedia, or haemoglobin E/beta thalassaemia in the United Kingdom. Data were extracted to show outcomes (selective abortion or live birth) of all fetuses and the status of those born with a disorder (alive, dead, successful bone marrow transplant, or lost to follow-up) by parents' region of residence and ethnicity. FINDINGS: At the end of 1999 the register included 1074 patients, 807 of whom were alive and residing in the United Kingdom. A successful bone marrow transplant has been performed for 117 out of 581 (20%) patients born since 1975. Residents of Pakistani origin are now the main group at risk in the United Kingdom, replacing residents of Cypriot origin. This has led to a marked shift in the need for services from the south-east of England to the Midlands and the north of England. Despite the acceptability of prenatal diagnosis, the proportion of affected births remains 50% higher than would be expected, reflecting a widespread failure to deliver timely screening and counselling to carriers. Even though effective treatment is available the annual number of deaths is rising, indicating that better tolerated treatments are needed. CONCLUSION: A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of inherited disorders and for highlighting correctable shortcomings. In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services.

Adolescent↗

PubMed2000

[Detecting embryo sex by fluorescence in-situ hybridization in preimplantation genetic diagnosis].

OBJECTIVE: Applying fluorescence in situ hybridization(FISH) in preimplantation gender diagnosis. METHODS: Ovarian hyperstimulation was performed in 2 hemophilia A carriers and 2 patients with Y chromosome abnormality. Embryo sex was identified by single blastomere FISH after embryo biopsy. Female embryos were transferred into uterus. RESULTS: A total of 110 cumulus-oocyte complex were retrieved in 5 treatment cycles. Among them, 68.2% showed normal fertilized pronuclei and 55 embryos were available for embryo biopsy. The success rate of biopsy was 85.5%, with further cleavage rate of 61.7%. In FISH procedure, one cell was lost during fixation, led to 97.9% fixation rate. Totally, 18 female embryos were diagnosed and 16 were transferred into uterus. Two clinical and one biochemical pregnancies were achieved. The diagnosis was confirmed by the following analysis of aminocyte and embryonic buds after embryo reduction respectively. CONCLUSIONS: FISH is an efficient and accurate technique for determination of the sex of human preimplantation embryos. Selective abortion and birth of affected child can be avoided by preimplantation gender diagnosis.

Female↗

PubMedDate not supplied

Conception to obtain hematopoietic stem cells.

A couple may have a child to provide stem cells for another child. They may also use preimplantation testing--even, troubling though it is, prenatal testing and selective abortion--to ensure a close tissue match.

Abortion, Eugenic↗

PubMed2002

Preimplantation gender diagnosis by fluorescence in situ hybridization.

OBJECTIVE: To describe the clinical application of fluorescence in situ hybridization (FISH ) in preimplantation gender diagnosis. METHODS: Preimplantation gender diagnosis was performed in 2 female hemophilia A carriers, 1 male patient with glucose-6-phosphate dehydrogenase (G-6-PD) deficiency and 2 male patients with Y chromosome abnormality. Embryo sex was identified by FISH in total of 6 treatment cycles. RESULTS: A total of 123 cumulus-oocytes were retrieved in 6 treatment cycles. Sixty-one embryos were available for embryo biopsy. The success rate of biopsy was 86.9% (53/61), with a further cleavage rate of 62.3% (33/53). In the FISH procedure, one cell was lost during fixation, leading to a 98.1% (52/53) fixation rate. Totally, 16 female embryos and 3 male embryos were transferred to 5 patients in 6 cycles. Three healthy babies were born. The diagnosis was confirmed by subsequent analysis of amniocytes and embryonic buds after embryo reduction. CONCLUSIONS: FISH is an efficient and reliable technique for determining the sex of human preimplantation embryos. Selective abortion and births of affected children can be avoided by preimplantation gender diagnosis.

Adult↗

PubMed2002

Fatal promise of immortality.

The Census of 2001 brings the heartening news that the secular decline in the sex ratio of file population has come to a halt: The sex ratio in the population has increased from 927 females per thousand males to 933 females per thousand males in 2001. However it also brings disturbing figures of the continuing decline in the sex ratio in the 0-6 years age group. Partly due to higher female mortality in this age group, demographers had agreed that it is also due to female foeticide, the sex-selective abortion of female foetuses. The figure for the number of females per 1000 males has come down from 945 in 1991 to 927 in 2001. Some states in the country, Himachal Pradesh, with a decline of 54, Punjab of 82, Haryana of 59, and Delhi and Gujarat of 50 each, have shown more precipitous declines. Indeed the sex ratio at birth, based on the SRS, points to an increasing masculinisation from 109.5 males per 100 females in 1990 to 111.0 males per 100 females in 1998. As a consequence there has been a great deal of official concern, the Indian Medical Association initiated a campaign to sensitise the public, the Supreme Court has instructed states to implement the Prenatal Diagnostic Techniques (PNDA) Act, and so-called religious leaders have too entered the fray. The situation is complex: Prenatal sex diagnostic tests are increasingly available, prospective parents apparently want it. A section of the medical profession, which supplies these services, argues that they reflect the values of society and are merely meeting the demands of women. It is in this context that Amin Malouf's excellent novel 'The Century after Beatrice' should perhaps be made essential reading for medical students, indeed all medical professionals.

Abortion, Induced↗

PubMed1996

Sex ratio at birth in China: features and influences.

The gradual increase in the sex ratio at birth (SRB) that has been recorded in China since 1980 is examined, and an attempt is made to identify the reasons for this increase. The author concludes that "such demographic variables as child-bearing age, parity and the sex of children have not determined the rising SRB since the 1980s in China. Rather, the traditional bias towards giving birth and reporting male offspring was responsible for the high SRB score and for the disparities in SRB between different socio-economic groups." The extent to which the birth of female babies is not reported is assessed, as is the extent of sex-selective abortion.

Abortion, Induced↗

PubMed2002

[Preimplantation genetic diagnosis].

OBJECTIVE: To evaluate the clinical effectiveness of preimplantation genetic diagnosis (PGD) for the couples having a higher risk of genetic diseases with fluorescence in situ hybridization (FISH). METHODS: Ovarian hyperstimulation, oocyte retrieval and in vitro fertilization were performed in 4 cases. Blastomere biopsy were performed from the embryos at the 6 - 8 cell stage. Genetic diagnosis was identified by single blastomere FISH. The female embryos or normal embryos were transferred into uterus. RESULTS: Twelve embryos were available for embryo biopsy. Twenty cells were collected. Seventeen nuclei were found after fixation. Hybridization signals of 11 embryos were clear and 8 embryos were transferred into uterus. One clinical pregnancy was achieved, and 1 normal female infant was delivered on september 14, 2001. CONCLUSION: PGD is very valuable for avoiding selective abortion and birth of affected child of the couples having a higher risk of genetic diseases by detecting embryo sex and chromosome number using FISH.

Adult↗

PubMed1992

Thalassemia in SouthEast Asia: problems and strategy for prevention and control.

In Southeast Asia alpha-thalassemia, beta-thalassemia, hemoglobin (Hb) E and Hb Constant Spring are prevalent. The gene frequencies of alpha-thalassemia reach 30-40% in Northern Thailand and Laos. beta-Thalassemia gene frequencies vary between 1 and 9%. Hb E is the hallmark of Southeast Asia attaining a frequency of 50-60% at the junction of Thailand, Laos, and Cambodia. Hb Constant Spring gene frequencies vary between 1 and 8%. These abnormal genes in different combinations lead to over 60 different thalassemia syndromes. The four major thalassemic diseases are Hb Bart's hydrops fetalis (homozygous alpha-thalassemia 1), homozygous beta-thalassemia, beta-thalassemia/Hb E and Hb H diseases. The molecular basis of most of these abnormal genes have been recently described. Therefore, it is possible to set a strategy for prevention and control of thalassemia which includes population screening for heterozygotes, genetic counseling and fetal diagnosis with selective abortion of affected pregnancies.

Asia, Southeastern↗

PubMed2002

At home with Down syndrome and gender.

I argue that there is an important analogy between sex selection and selective abortion of fetuses diagnosed with Down syndrome. There are surprising parallels between the social construction of Down syndrome as a disability and the deeply entrenched institutionalization of sexual difference in many societies. Prevailing concepts of gender and mental retardation exert a powerful influence in constructing the sexual identities and life plans of people with Down syndrome, and also affect their families' lives.

Abortion, Eugenic↗

PubMed1994

Thalassaemia in Malaysia: a strategy for prevention.

In Malaysia, alpha-thalassaemia, beta-thalassaemia, haemoglobin (Hb) E, deltabeta-thalassaemia and Hb Constant Spring are prevalent. It has been estimated that 1 in 4 persons carries one of the above genetic abnormalities. In clinical practice, the major problems are: Hb Bart's hydrops fetalis (homozygous alpha(o)thalassaemia), homozygous 3(o)-thalassaemia, E-alpha thalassaemia and HbH disease. The laboratory procedures for diagnosis are standardised and the molecular basis of most of these genetic abnormalities are characterised. Thus it is possible to formulate a strategy for the detection and prevention of these disorders. The steps include the setting-up of population screening and genetic counselling service for the affected individuals, Society of Thalassaemias for public education and group support, and prenatal diagnosis with selective abortion of affected pregnancies. We embarked on such a programme between 1988 and 1992 in Kuala Lumpur General Hospital and hope to kindle similar effort in other state hospitals.

Adult↗

PubMed1991

Ethical considerations relating to prenatal diagnosis of fetuses with Down syndrome.

Advances in prenatal diagnoses of genetic and chromosome disorders have brought about numerous legal and ethical concerns. There are many proponents of prenatal diagnosis and selective abortion of affected fetuses who indicate that such procedures benefit society and the family as well as constitute "good" preventive medicine. Arguments against aborting affected fetuses have been proposed by people who look upon human life, including fetal life, as precious and valuable. They feel that physical and intellectual impairments are not valid reasons to recommend pregnancy termination. Prospective parents of affected fetuses with a chromosome disorder such as Down syndrome must be provided with all pertinent information, appropriate counseling, and support.

Abortion, Eugenic↗

PubMed1990

Limits to genetic intervention in humans: somatic and germline.

The promise of somatic cell gene therapy is likely to be limited to a narrow range of monogenic hereditary defects. This therapy raises few moral issues. However, extension to the 'improvement' of a normal trait might raise problems, similar to the use of hormones in sports. Another danger is uses that result, like heroic measures to save the premature newborn, in the prolongation of misery and in intolerable expense. The genetic alteration of germline cells, which can already be accomplished in animals, is in principle applicable to all monogenic diseases. Its use in humans is much less acceptable than somatic cell therapy. The objection that it tampers with human evolution is widely cited. However, more important may be the risk of producing a new defect, for risk is much less acceptable in a yet unborn person than in an already ill individual. In addition, the goal of germline therapy could almost always be accomplished more simply and safely by prenatal diagnosis and selective abortion. The highly polygenic nature of the most interesting traits, both behavioural and physical, makes it unlikely that we shall be able to modify them usefully in the foreseeable future by either somatic or germline intervention. Despite this delivery from temptation, public fear of future 'blueprinting' of humans no doubt contributes to a multi-faceted antiscience movement.

Ethics, Medical↗

PubMed1984

[Detection, genetic counseling and phenotype prevention of Duchenne muscular dystrophy].

Literature data and the own ascertainment of Duchenne muscular dystrophy cases concentrated on the Leipzig county confirm the necessity of early diagnosis and of central registration, search for female carries and genetic counselling. A newborn screening is supported provided that its organization will be practicable. About 12% of Duchenne cases are secondary affections of brothers. It should be possible to prevent one third of all cases by means of counselling also of the female relatives of the mothers. The repeated estimation of serum creatinkinase activity, completed by electromyography, has the greatest practical importance for the identification of heterozygous carriers. For the genetic counselling of definite carriers and women at risk it is possible only to recommend intrauterine sex prediction and the selective abortion of male fetuses.

Adolescent↗

PubMed1984

Genetic engineering, medicine and medical genetics.

The impact of DNA technology in the near future will be on the manufacture of biologic agents and reagents that will lead to improved therapy and diagnosis. The use of DNA technology for prenatal and preclinical diagnosis in genetic diseases is likely to affect management of genetic diseases considerably. New and old questions regarding selective abortion and the psychosocial impact of early diagnosis of late appearing diseases and of genetic susceptibilities are being raised. Somatic therapy with isolated genes to treat disease has not been achieved. True germinal genetic engineering is far off for humans but may find applications in animal agriculture.

Genetic Engineering↗

PubMed1981

[Clinical aspects of thalassemia (or microcythemia)].

The thalassaemias are genetic syndromes brought about by a low or nil synthesis of one or more of the main globinic chains and by consequent imbalance of the normal ratio between alpha and non-alpha chains. Three basic pictures can be distinguished: (1) microcythemia or thalassaemia minima, the expression of heterozygosis for one microcythemic gene, which includes beta, delta beta and alpha microcythemias. Subjects are healthy but very often pale and asthenic, (2) intermediate thalassaemia, very similar to thalassaemia major, though a less severe disease. It is the expression of the presence of microythemic geness which results in a globin synthesis imbalance less marked than that of the thalassaemia major. The patients are frankly anemic and more or less pronounced hyperhemolysis (but they only need sporadic transfusions, usually at adult age), and present splenomegaly often of a considerable extent and hepatomegaly. Their physical growth and reproductive capacity are normal or nearly so and they attain the fifth or sixth decade of life. Two varieties of this syndrome have been identified, namely beta-intermediate thalassaemias (or Rietti-Greppi-Micheli's disease or also constitutional microcythemic anemia) and alpha-intermediate thalassaemias (or Hb H disease); (3) thalassaemia major or Cooley's anemia or Mediterranean anemia, the expression of homozygosis for severe genes of microcythemia which results in a marked globin synthesis imbalance; this is a so severe disease that not treated patients usually die when they are three-four years old. Nowadays, however, prognosis, clinical course and life expectancy of these patients are considerably improved so that they usually attain the third decade of age in relatively fair conditions. There are available three fundamental therapeutic actions: blood transfusions carried out at very short intervals; splenectomy which allows to reduce the rhythm of the blood transfusion regimen; the iron chelating therapy which delays the onset of the iron overloading in the organism. Finally, it is possible the prevention of this disease by preventing the procreation between microcythemics and by prenatal identification of Cooley's foetuses followed by thier selective abortion.

Abortion, Therapeutic↗