[Procedures for the rapid macroscopic assessment of bulk trophoblast specimens in performing invasive methods of prenatal diagnosis].
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Biomedical subjects
Publications and source records attributed to P N Veropotvelian.
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Red cell osmotic and peroxide resistance characteristics were used in the diagnosis of preclinical forms of gestosis in pregnant women. These parameters reduced 2 and 1.2 times vs. the reference values 7-8 weeks before the manifestation of gestosis clinical symptoms. Using the mathematical method of standardized intensive parameters, the authors have developed a prognostic table for the prediction of late gestosis development, that permitted a correct prediction of pregnancy course in 72.2% of women during the first trimester of pregnancy.
The paper reports sonographic prenatal diagnosis of monogenic and chromosomal syndromes (congenital malformations) which are associated with skeletal abnormalities: autosomal recessive syndromes (shortribs--polydactyly, type II; dyssegmental dwarfism, type II; Pen-Shokeir disease type I), autosomal dominant syndromes (Larsen's syndrome, achondroplasia, Schmidt's metaphyseal dysplasia of segregating partial chromosome of 7 long-arm trisomy). All cases were detected in the second trimester; diagnosis of chromosomal diseases employed the amniocentesis. In aborted pregnancies, diagnoses were confirmed at autopsy. Pathognomonic sonographic markers were described for every syndrome; numerous conditions were differentiated from similar syndromes. Genetic counseling identified recurrence risks and offspring prognosis. Potentials of sonographic diagnosis of systemic skeletal dysplasia and a need for a syndrome-oriented approach to prenatal diagnosis are discussed.
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Problems of prenatal complex diagnosis of Down's syndrome are considered. The levels of alpha-fetoprotein in blood serum of pregnant women should be studied in the optimum terms (17-19 weeks of pregnancy). The assessment of several immuno-biochemical markers is most important for diagnosis.
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