Genetic Disorders and the Fetus: Diagnosis, Prevention, and Treatment
Johns Hopkins University Press, 2004 - Medical - 1224 pages
The definitive reference work on prenatal diagnosis, Genetic Disorders and the Fetus is now available in a completely revised and updated fifth edition reflecting the most current advances in research, technology, and clinical care. critical analysis of the latest work in prenatal diagnosis of genetic and other disorders. Topics include: fragile X syndrome, cystic fibrosis, neural tube defects, and hemoglobinopathies; the experience and techniques of amniocentesis, chorionic villus sampling, ultrasound, fetal blood sampling; abortion and fetal therapy; and medicolegal and ethical issues in prenatal diagnosis. The book describes the use of combined biochemical markers to screen for neural tube and chromosomal defects, presents the latest developments relating to testing fetal cells in the mother's blood, and reviews major advances in molecular genetics that permit prenatal carrier detection and presymptomatic and predictive testing.
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Amniocentesis and Fetal Blood Sampling
Amniotic Fluid Cell Culture
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aciduria Acta activity affected allele amino acid amniocentesis amniocytes amniotic fluid amniotic fluid cells aneuploidy anomalies assay associated autosomal recessive biochemical Biol birth carrier cause characterized chorionic villus sampling chromosomal abnormalities Clin Genet clinical cloning congenital cultured cystic fibrosis cytogenetic deficiency deletion Engl enzyme female fetal blood fetal loss fetus fetuses fibroblasts FISH fragile fragile X syndrome frequency gene genetic counseling heterozygotes Hum Genet human hybridization identified increased Inherit Metab karyotype laboratory Lancet levels liver lysosomal male malformations marker maternal serum mental retardation metabolism Mol Genet molecular mosaicism MSAFP multiple mutations Nat Genet neonatal normal NTDs Obstet Gynecol outcome patients Pediatr percent phenotype placental plasma polymorphisms pregnancy Prenat Diagn prenatal diagnosis probes protein reported risk screening second trimester sequence studies Table testing thalassemia therapy tion tissue translocation trisomy Turner syndrome ultrasound weeks of gestation women X chromosome X-linked
Current Topics in Developmental Biology, Volume 29
Limited preview - 1994
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