Hostname: page-component-586b7cd67f-rcrh6 Total loading time: 0 Render date: 2024-11-26T07:30:36.710Z Has data issue: false hasContentIssue false

Prenatal Genetics with Particular Reference to Neurological Disease

Published online by Cambridge University Press:  01 August 2014

Hans Zellweger*
Affiliation:
Department of Pediatrics, University Hospitals, Iowa City, Iowa, USA
*
Department of Pediatrics, University Hospitals, Iowa City, Iowa 52242, USA

Abstract

Core share and HTML view are not available for this content. However, as you have access to this content, a full PDF is available via the ‘Save PDF’ action button.

Prenatal diagnosis, although it has been introduced only a few years ago, has already become an important branch of genetics and cytogenetics.

Metabolites of certain monogenic diseases can be discovered in the supernatant of the amniotic fluid, although reliable results are obtained in later months of pregnancy only.

Determination of fetal sex is important if the mother is a proven carrier of a severe X-linked disease such as X-linked muscular dystrophies, Hunter's, Lowe's, Lesch-Nyhan disease. It can be done by the analysis of nuclear sex or sex chromosomal complement.

Biochemical studies of amniotic fluid cells, notably cultured amniotic fluid cells, permit prenatal diagnosis of some inborn errors of metabolism such as Tay-Sachs disease, Hurler's and Hunter's disease, and some rare monogenic diseases.

Numerically of greater importance is the prenatal chromosomal analysis of high-risk women. Provided it could be done in all so-called high-risk women, a considerable number of aneuploidies could be prenatally detected and ultimately prevented.

Religious and legal implications of eugenic abortions are discussed.

Type
2. Genetic Counseling and the Detection of Carriers in Neurology
Copyright
Copyright © The International Society for Twin Studies 1974

References

REFERENCES

Aronson, S.M., Myrianthopoulos, N.C. in O'Brien, J.S. 1972.Google Scholar
Boué, J.G., Boué, A. 1973. Increased frequency of chromosomal anomalies in abortions after induced ovulations. Lancet, 1: 679680.Google Scholar
Brock, D.J.H., Sutcliff, R.G. 1972. Alpha-fetoprotein in the antenatal diagnosis of anencephaly and spina bifida. Lancet, 2: 197199.Google Scholar
Burton, B.K., Gerbie, A.B., Nadler, H.L. 1974. Present status of intrauterine diagnosis of genetic defects. Am. J. Obstet. Gynecol., 118: 718746.CrossRefGoogle ScholarPubMed
Campbell, S., Holt, E.M., Johnstone, F.D., May, P. 1972. Anencephaly: early ultrasonic diagnosis and active management. Lancet, 2: 12261227.Google Scholar
Cox, R.P., Douglas, G., Hutzler, J., Lynfield, J., Dancis, J. 1970. In-utero diagnosis of Pompe's disease. Lancet, 1: 893.Google Scholar
Danes, B.S., Beam, A.G., 1966 a. Hurler's syndrome: a genetic study in cell culture. J. Exp. Med., 123: 116.Google Scholar
Danes, B.S., Beam, A.G. 1966 b. Hurler's syndrome. J. Exp. Med., 124: 11811198.Google Scholar
Dorfman, A. 1972. Antenatal Diagnosis. Chicago: University of Chicago Press.Google Scholar
Fratantoni, J.C., Neufeld, E.F., Uhlendorf, B.W., Jacobsen, C.B. 1969. Intrauterine diagnosis of the Hurler and Hunter syndromes. N. Engl. J. Med., 280: 686689.Google Scholar
Fuchs, F. (ed.) 1966. Symposium on Amniotic Fluid. Clin. Obstet. Gynecol., 9: 425573.Google Scholar
Howell, R. 1972. Genetic disease: the present status of treatment. Hosp. Practice, 7: 7584.CrossRefGoogle Scholar
Ionasescu, V., Zellweger, H., Conway, T.W. 1971. A new approach for carrier detection in Duchenne muscular dystrophy. Neurology, 21: 703709.Google Scholar
Kaback, M. 1973. Tay-Sachs disease. Hosp. Practice, 8: 107113.Google Scholar
Lubs, H.A., Ruddle, F.H. 1970. Chromosomal abnormalities in the human population: estimation of rates based on New Haven newborn study. Science, 169: 495497.Google Scholar
Matalon, R., Dorfman, A. 1972. Hurler's syndrome, an alpha-L-iduronidase deficiency. Biochem. Biophys. Res. Commun., 47: 959964.Google Scholar
Matalon, R., Dorfman, A., Nadler, H.L. 1972. A chemical method for the antenatal diagnosis of mucopolysaccharidosis. Lancet, 1: 798799.Google Scholar
Merkatz, I.R., New, M.I., Peterson, R.E., Seaman, M.P. 1969. Prenatal diagnosis of adrenogenital syndrome by amniocentesis. J. Pediatr., 75: 977982.Google Scholar
Milunsky, A., Littlefield, J.W. 1969. Diagnostic limitations of metachromasia. N. Engl. J. Med., 281: 11281129.Google Scholar
Milunsky, A. 1973. Prenatal Diagnosis of Hereditary Disorders. Springfield, Illinois: Charles C. Thomas.Google Scholar
Myrianthopoulos, N.C. 1962. Some epidemiologic and genetic aspects of Tay-Sachs disease. In Aronson, C.S.M. and Volk, B.W. (eds.): Cerebral sphingolipidoses [p. 375]. New York: Academic Press.Google Scholar
Nadler, H.L., Messina, A.M. 1969. In-utero detection of type-II glycogenosis (Pompe's disease). Lancet, 2: 12771278.CrossRefGoogle ScholarPubMed
Nadler, H.L. 1972. Prenatal detection of genetic disorders. Adv. Hum. Genet., 3: 138.Google Scholar
Neufeld, E.F., Fratantoni, J.C. 1970. Inborn errors of mucopolysaccharide metabolism. Science, 169: 141146.Google Scholar
O'Brien, J.S. 1969. Diagnosis of Tay-Sachs. Nature, 224: 1038.Google Scholar
O'Brien, J.S., Okada, S., Fillerup, D.L., Veath, M.L., Adornato, B., Brenner, H., Leroy, J.G. 1971. Tay-Sachs disease: prenatal diagnosis. Science, 172: 6163.CrossRefGoogle ScholarPubMed
O'Brien, J.S. 1972. Ganglioside storage diseases. Adv. Hum. Genet., 3: 3998.CrossRefGoogle ScholarPubMed
Okada, S., O'Brien, J.S. 1969. Tay-Sachs disease: generalized absence of beta-D-N-acetylhexosaminidase component. Science, 165: 698700.Google Scholar
Ratcliffe, S.G., Melville, M.M., Stewart, A.L., Jacobs, P.A., Keay, A.J. 1970. Chromosome studies on 3500 newborn male infants. Lancet, 1: 121122.Google Scholar
Salafsky, I.S., Nadler, H.L. 1971. Alpha-l,4-glucosidase activity in Pompe's disease. J. Pediatr., 79: 794798.CrossRefGoogle Scholar
Schneider, E.L., Ellis, W.G., Brady, R.O., McCullock, J.R., Epstein, C.J. 1972. Infantile (type II) Gaucher's disease: in-utero diagnosis and fetal pathology. J. Pediatr., 81: 11341139.CrossRefGoogle ScholarPubMed
Seppälä, M., Ruoslahti, E. 1972. Alpha-fetoprotein in antenatal diagnosis. Lancet, 1: 155.Google Scholar
Sergovich, F., Valentine, G.H., Chen, A.T.L., Kinch, R.A.H., Smout, M.S. 1969. Chromosome aberrations in 2159 newborn babies. N. Engl. J. Med., 280: 851855.CrossRefGoogle ScholarPubMed
Sly, W.S., Quinton, B.A., McAlister, W.H., Rimoin, D.L. 1973. Beta-glucuronidase deficiency: report of clinical, radiologic and biochemical features of a new mucopolysaccharidosis. J. Pediatr., 82: 249257.CrossRefGoogle ScholarPubMed
Spranger, J.W. 1972. The systemic mucopolysaccharidoses. Ergeb. Inn. Med. Kinderheilkd., 32: 165320.Google ScholarPubMed
Svennerholm, L. 1964. The gangliosides. J. Lipid Res., 5: 145155.CrossRefGoogle ScholarPubMed
Stein, Z., Susser, M., Guterman, A.V. 1973. Screening programme for prevention of Down's syndrome. Lancet, 1: 305310.Google Scholar
Suzuki, Y., Jacob, J.C., Suzuki, K., Kuthy, K.M., Suzuki, K. 1971. GM2-gangliosidosis with total hexosaminidase deficiency. Neurology, 21: 313328.Google Scholar
Zellweger, H., Durnin, R., Simpson, J. 1972. The diagnostic significance of serum enzymes and electrocardiogram in various muscular dystrophies. Acta Neurol. Scand., 48: 87101.Google Scholar
Zellweger, H., Simpson, J. 1973. Is routine prenatal karyotyping indicated in pregnancies of very young women? J. Pediatr., 82: 675677.Google Scholar