Genetic Metabolic Diseases. Early Diagnosis and Prenatal Analysis
نویسندگان
چکیده
منابع مشابه
Very early prenatal diagnosis of genetic diseases based on coelomic fluid analysis: a feasibility study.
BACKGROUND Coelocentesis may represent the ideal technique for very early prenatal diagnosis. Although cell density in coelomic fluid (CF) is very low, the results of analyses on the cellular compartment have been proposed for prenatal diagnosis. METHODS AND RESULTS We aimed to evaluate the amount of total DNA (i.e. cellular and cell-free) in 14 samples (0.4-0.8 ml) of CF, taken from women at...
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Familiarity with the concepts and methods of human genetics is important in order to be able to perform genetic analysis. The grade of predictability of a genetic disease is partly given by formal genetics but also depends on the importance of the mutated gene for the phenotype.Possibilities for genetic analysis range from differential diagnosis to predictive diagnosis to prenatal diagnosis. Af...
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Traditionally genetic counselling has been made up of two parts. The first is the establishment of an accurate diagnosis of the disorder, usually in the child of the parents availing themselves of counsel but sometimes in the consultand himself. The second is the calculation of recurrence risks through knowledge or the best possible assumptions about the mode of inheritance of the disease. When...
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Dot blot analysis on enzymatically amplified trophoblast DNA with allele specific oligonucleotide probes is currently used for the prenatal diagnosis of single gene disorders characterised at the molecular level, such as the beta thalassaemias, phenylketonuria, sickle cell anaemia, and alpha 1-anti-trypsin deficiency. A potential problem with the use of this procedure is the co-amplification of...
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ژورنال
عنوان ژورنال: Archives of Disease in Childhood
سال: 1981
ISSN: 0003-9888,1468-2044
DOI: 10.1136/adc.56.4.319-b