Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment
Springer US, Dec 1, 1979 - Medical - 704 pages
Technological advances continue to expand the number of genetic disorders that can be diagnosed in utero. Utilization of this new technology has de manded special expertise available in relatively few academic centers. As these new applications have become more widespread so have the realities of the medicolegal implications. Notwithstanding the laboratory challenges, most legal action, at least in the United States, has arisen from the physician's failure to inform a patient about the risks of a genetic disorder or the oppor tunities presented by prenatal diagnosis. Hence an extensive thorough reex amination of the subject seems appropriate and timely. The steady escalation in the number of prenatal genetic studies now being done in the western world makes it imperative for the physician to have a thorough comprehension of the subject in its entirety. I am, therefore, fortu nate in having colleagues who as acknowledged experts have shared their knowledge and experience in order to make this volume a major critical repository of facts and guidance about prenatal genetic diagnosis. The subject matter ranges from a consideration of required genetic counseling through the intricacies of establishing prenatal diagnoses. Special attention is focused on new advances using ultrasound, a-fetoprotein, fetoscopy, and first trimester diagnosis. Both ethical and legal implications are discussed in detail, as is the development of public policy.
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Prelude to Prenatal
Prerequisites for Genetic Counseling
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abortion Acta activity affected alpha-fetoprotein amniocentesis amniotic fluid amniotic fluid cells anencephaly anomalies Antenatal diagnosis assay autosomal recessive biochemical Biophys birth carrier cell cultures child Chim chromosomal abnormalities Clin clinical congenital cultivated amniotic fluid cultivated skin fibroblasts cystic fibrosis cytogenetic deficiency Duchenne Engl enzymatic enzyme erythrocytes fetal fetal blood fetal cells fetal sex fetoscopy fetus fetuses fibroblasts frequency genetic counseling genetic disease gestation Gynecol heterozygote detection human Hunter syndrome infants infection intrauterine karyotype Lancet leukocytes lymphocytes lysosomal male maternal age maternal blood maternal serum mental retardation metabolism metachromatic leukodystrophy Milunsky mosaicism muscular dystrophy Nadler neural tube defects newborn normal NTDs Obstet parents patients Pediatr phenotype physician placental plasma possible pregnancy prenatal detection prenatal diagnosis Proc protein reported risk samples second trimester serum AFP spina bifida storage disease syndrome Tay-Sachs disease techniques therapy tissue translocation trisomy 21 twins ultrasonic ultrasound urine utero weeks women X-linked
Current Topics in Developmental Biology, Volume 29
Limited preview - 1994
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