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PubMed1980

Effects of antenatal diagnosis and selective abortion on frequencies of genetic disorders.

The total public health impact on the frequency of chromosomal disorders using maternal age cut-offs for amniocentesis is relatively small even if all pregnant women beyond 35 years of age were to have amniocentesis. Present-day reporductive practices would only permit the detection of about 20 per cent of cases of Down's syndrome in this age group. Methods to detect chromosomally abnormal fetal cells in maternal blood have much promise for the identification of all women carrying fetuses with abnormal chromosomes. Intrauterine diagnosis of most autosomal dominant disorders is currently not possible. Only relatively frequent autosomal recessive diseases for which simple techniques of heterozygote detection and fetal diagnosis of affected homozygotes are available can be significantly reduced in frequency by intrauterine diagnosis and selective abortion. Only Tay-Sachs disease currently meets these specifications. The paradoxical effect of increasing the frequency of the gene responsible for a disorder such as Tay-Sachs disease following abortion of affected fetuses is discussed but is considered negligible for many generations. Antenatal diagnosis of neural tube defects by assay of amniotic fluid alpha-fetoprotein when carried out following birth of an affected infant in the mother or in an immediate family member has only a small impact on the frequency of this condition. Blood screening for alpha-fetoprotein followed by confirmatory tests potentially can detect a large fraction of affected infants but many logistical problems of false positive and negative results remain. Reduction in the frequency of other multifactorial birth defects by the intrauterine diagnostic approach will require new methods based on blood screening of pregnant women. While the total present impact of antenatal diagnosis on the population frequency of all genetic disorders and birth defects is modest, the usefulness of the procedure in preventing various genetic diseases in families with previously affected members is great and should not be underestimated.

Abortion, Eugenic↗
PubMed1989

[Selective abortion under sonographic control in multiple pregnancy].

Selective embryocide was performed at 9 weeks in a patient with a quadruplet pregnancy. No complications occurred and the patient was delivered of healthy triplets at 31 3/7 weeks of pregnancy. This procedure may be offered to patients with pregnancies with more than four embryos.

Abortion, Eugenic↗
PubMed1979

May spina bifida result from an X-linked defect in a selective abortion mechanism?

It is suggested that the major genetic factor in determining the birth of children with neural tube defects may be a single X-linked gene. It acts as an X-linked dominant, not by producing neural tube defects, but by enabling the affected fetus to survive selective spontaneous abortion. This mechanism, mediated at the deciduoplacental junction, may be under the control of both maternal and fetal genes. With more mutant alleles, survival would become more likely, reaching a maximum in the homozygous affected female fetus of a homozygous affected mother. The female excess in anancephaly is greater than that in spina bifida because of its prenatal severity, thus requiring relatively more mutant alleles for survival.

Abortion, Spontaneous↗
PubMed1992

Genetic counselor attitudes towards fetal sex identification and selective abortion.

Thirty-four prenatal genetic counselors (all but one non-M.D.s) in seven American cities were interviewed on attitudes which might plausibly affect counselor-client interchanges. They overwhelmingly endorse both non-directive counseling and the pro-choice ethos which supports a woman's absolute right to abortion in the early stages of pregnancy. However, they also overwhelmingly condemn using prenatal diagnosis for sex selection purposes. Therefore, counselors experience continual stress from clients who evoke the conflict inherent between these two stances. Counselors use a variety of coping mechanisms to minimize this cognitive dissonance. Avoidance through out-referral or invoking institutional policies forbidding prenatal diagnosis for sex selection purposes is a diminishing option and not possible with clients who have or offer a medical indication. More common is the use of psychological coping mechanisms. By elevating the ideals of non-directiveness and female autonomy counselors better tolerate client values in conflict with their own. Some redefine the category of 'unwanted pregnancy' to include fetuses of the 'wrong sex'; others redefine the problem as their own ethnocentricism. Empowering counselors to set the protocols they use to screen applicants for prenatal diagnosis would not remove these conflicts. Many counselors believe a ban on releasing fetal sex information while abortion is still a legal option would be organizationally or legally unacceptable, or a violation of patient automony. A complicating factor is that 60% of the counselors interviewed would prefer to know fetal sex in their own pregnancies. Counselors reflect the ambivalence of American society in balancing conflicting social goals.(ABSTRACT TRUNCATED AT 250 WORDS)

Abortion, Legal↗
PubMed1993

Is selective abortion for a genetic disease an issue for the medical profession? A comparative study of Quebec and France.

This article discusses the results of a study of the stand and attitudes of physicians from the Picardie, Nord-Pas-de-Calais region in France and the province of Quebec (Canada) regarding abortion following the diagnosis of a fetal anomaly by ultrasound, amniocentesis, or chorionic villus sampling. The study examined the degree of acceptability of abortion for several specific conditions as well as the physicians' perceptions of their role in the women's decision to abort. The study shows a consensus (over 75 per cent of the physicians surveyed) for aborting a fetus with trisomy 21. There is a similar consensus, except among Francophones in Quebec, for muscular dystrophy, cystic fibrosis, and Huntington disease. Conversely, there is no consensus (below 60 per cent) for several anomalies. In these cases, Quebec Anglophone physicians find abortion more acceptable than Quebec Francophone or French physicians. Concerning the role of the practitioners in the decision to abort, physicians in France tend to be much more directive than their overseas colleagues. Several hypotheses are suggested to explain the difference between the three groups surveyed.

Abortion, Therapeutic↗
PubMed1981

Selective abortion of two nonsister nuclei in a developing ascus of the hfd-1 mutant in Saccharomyces cerevisiae.

A recessive mutation, hfd1-1, in strain SOS4 of Saccharomyces cerevisiae leads the mutant cells to produce predominantly two-spored asci. Light microscopical examination of Giemsa-stained cells revealed no significant differences in the meiotic figures between mutant and wild-type strains. However, only two of the four meiotic products in a developing ascus matured to ascospores in SOS4. Dyad analysis was carried out on an hfd1-1 mutant strain heterozygous for three markers, asp5, gal1, and arg4, which are closely linked to their centromeres, and for his4, which is loosely linked to its centromere. The two-spored asci produced by the hfd1-1 mutant segregated dominant (+) and recessive (-) alleles of each marker in a 1:1 ratio; they generally contained one + and one - spore for any given marker. The occurrence of rare dyads with two + or two - spores can be explained quantitatively by recombination between the marker and its centromere. From the results of these cytological and genetical analyses, we infer that, in the mutant strain, one genome set is partitioned to each of the four second-meiotic division poles, but only two nonsister genomes are incorporated into mature spores. Thus, the hfd1-1 mutation in SOS4 blocks incorporation of two nonsister nuclei into mature ascospores, but does not block enclosure of the remaining two nonsister nuclei.

Genes, Recessive↗