Biopolym. Cell. 1990; 6(1):46-51.
Problems on prenatal diagnosis of hereditary diseases and possible ways of their correction
1Baranov V. S.
  1. Institute of Obstetrics and Gynecology, Academy of Medical Sciences of the USSR
    Leningrad, USSR


Prenatal diagnosis (PD) is defined as a relatively new branch of medical genetics. Its major goal is to study human genome functions in normal and abnormal development, embryonic-maternal interactions. Its practical application is confined to elaboration of new effective ways to prevent hereditary diseases and probably somewhat later their specific corrections. Most urgent problems of prenatal diagnosis are outlined and briefly discussed. They include RFLP analysis in high risk families and organization of DNA data banks; wide application of polymcrase chain reaction; search for new informative RFLP sites; molecular analysis of mutated genes and their primary effects. Urgent problems in prenatal diagnosis of chromosomal diseases include application of chromosome specific DNA probes; the studies of aneuploidy origin and chromosomal mosaicism detection; ellaboration of non-invasive methods for karyotyping and sexing of the human embryos. Possible ways for corrections and treatment of hereditary diseases in man are briefly discussed.


[1] Bochkov NP. Theoretical and institutional framework for prevention of hereditary diseases. Prevention of hereditary diseases. Moscow, 1987; 5-16.
[2] Kuliev AM. Advances in prenatal diagnosis and their importance in the prevention of hereditary diseases. Prevention of hereditary diseases. Moscow, 1987; 27-37.
[3] Sommer SS, Sobell JL. Application of DNA-based diagnosis to patient care: the example of hemophilia A. Mayo Clin Proc. 1987;62(5):387-404.
[4] Jeanpierre M, Junien C. DNA analysis as clinical investigation: when and how? Ann Genet. 1984;27(3):134-47.
[5] Davies K. Human genetics diseases. A practical approach. Oxford, Washington: IRL press, 1986. 138 p.
[6] Kalinin VN. Genetic engineering diagnosis of hereditary diseases. Diagnosis of hereditary diseases. Moscow, 1986; 103-22.
[7] Baranov VS. Prenatal diagnosis of hereditary diseases, current status, real possibilities and prospects. Vestn Akad Med Nauk SSSR. 1987;(4):44-50.
[8] Gindilis VM, Anan'ev EV. Molecular approaches to the systematic mapping of the human genome. Genetika. 1984;20(11):1749-62.
[9] Davidenkova EF, Lantsov VA, Shvarts EI. Fundamentals of the current diagnosis, prevention and treatment of hereditary diseases. Vestn Akad Med Nauk SSSR. 1986;(9):8-13.
[10] Evgrafov OV, Makarov VB. Diagnosis of Duchenne muscular dystrophy using DNA probes. Zh Nevropatol Psikhiatr Im S S Korsakova. 1987;87(11):1732-6.
[11] Estivill X, Scambler PJ, Wainwright BJ, Hawley K, Frederick P, Schwartz M, Baiget M, Kere J, Williamson R, Farrall M. Patterns of polymorphism and linkage disequilibrium for cystic fibrosis. Genomics. 1987;1(3):257-63.
[12] Shvarts EI, Ivashchenko TE, Gol'tsov AA, Kaboev OK, Gorbunova VN, Baranov VS. Use of a chain reaction method of DNA synthesis for analyzing the frequency of restriction polymorphism of the CS-7 DNA locus in the population and in families of patients with mucoviscidosis. Dokl Akad Nauk SSSR. 1989;307(2):467-9.
[13] Saiki RK, Gelfand DH, Stoffel S, Scharf SJ, Higuchi R, Horn GT, Mullis KB, Erlich HA. Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science. 1988;239(4839):487-91.
[14] Williams C, Williamson R, Coutelle C, Loeffler F, Smith J, Ivinson A. Same-day, first-trimester antenatal diagnosis for cystic fibrosis by gene amplification. Lancet. 1988;2(8602):102-3.
[15] Feldman GL, Williamson R, Beaudet AL, O'Brien WE. Prenatal diagnosis of cystic fibrosis by DNA amplification for detection of KM-19 polymorphism. Lancet. 1988;2(8602):102.
[16] Yurov YuB. Molecular cytogenetics of heterochromatic regions in the human genome: Author. dis. ... Dr. med. Sci. Moscow, 1987; 34 p.
[17] Kogan SC, Doherty M, Gitschier J. An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A. N Engl J Med. 1987;317(16):985-90.
[18] Selypes A, Lorencz R. A noninvasive method for determination of the sex and karyotype of the fetus from the maternal blood. Hum Genet. 1988;79(4):357-9.
[19] Zimmer A, Gruss P. Production of chimaeric mice containing embryonic stem (ES) cells carrying a homoeobox Hox 1.1 allele mutated by homologous recombination. Nature. 1989;338(6211):150-3.
[20] Gene therapy in man. Recommendations of European Medical Research Councils. Lancet. 1988;1(8597):1271-2.
[21] Roberts L. New targets for human gene therapy. Science. 1988;241(4868):906.