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Search indexed PubMed citations on genomics, clinical trials, systematic reviews and public health. Explore titles, authors and supplied subject terms, then open the PubMed record.

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PubMed1979

Legal and social issues in medical genetics.

This paper was written for the purpose of providing the physician with a perspective of the conflicting scientific, individual, and societal interests which have been evoked by increasing medical and scientific innovation in the area of human genetic disease. In it the following subjects are considered: (1) obtaining genetic information by amniocentesis, by genetic counseling, and by screening; (2) disclosure of genetic data to the patient; (3) inclusion of genetic data on the medical record; (4) courses of action available to the individual after disclosure of genetic information, i.e., abortion, sterilization, etc.; (5) the state and involuntary sterilization; and (6) prohibitions on marriage.

Abortion, Legal↗
PubMed2025

Prenatal screening for trisomy 21 (Down syndrome) using first- and second-trimester biochemistry and nuchal translucency: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

This technical standard was developed as a guide for laboratories performing prenatal screening for Down syndrome. It addresses 3 topics: second trimester (triple or quad), first trimester, including incorporation of nuchal translucency, and current directions in cell-free DNA screening. Analytic methods, clinical considerations, screening performance, guidelines for reporting second trimester, first trimester, integrated, contingent, and reflex screening tests for Down syndrome, are discussed. Individual laboratories are responsible for meeting the quality assurance standards described by the Clinical Laboratory Improvement Amendments, the College of American Pathologists, and other regulatory agencies, with respect to appropriate sample documentation, assay validation, general proficiency, and quality control measures.

Humans↗
PubMed1977

Medical genetics.

Explore the source record for details and available documents.

Genetic Counseling↗
PubMed1978

[Medical genetic study of the population of Uzbekistan. V. The frequency of heterozygous beta-thalassemia in 4 kishlaks of Urgut District, Samarkand Province].

A subject of this investigation is the results of the subtotal examination of 4 villages for the detection of heterozygous beta-thalassemic carriers. 848 persons (55.5% of the registered population) have been examined. The mean frequency of the beta-Th gene was 0.0159, FST-Wahlund--0.00975. Statistically significant differences in the gene frequencies between villages have been revealed (p less than 0.01). The study of genetic distances (by Edwards) has revealed no intertribe differences in gene frequencies. The comparison of findings of the present study with other similar investigations enabled to account for the detected differences in the frequencies of beta-thalassemia as a result of the genetic drift. The importance of choosing populations for the study and methods for detection heterozygous beta-thalassemia are discussed.

Gene Frequency↗