Læknablaðið : fylgirit - 01.05.1982, Qupperneq 92

Læknablaðið : fylgirit - 01.05.1982, Qupperneq 92
90 was significantly elevated in three eases only. In one the AFP phoved within normal limits on repeat, while in the other two the fetuses were thought to be dead at the time of amnio- centeses. No case of a neural tube defect was found. Eleven fetuses with chromosomal ab- normalities were diagnosed. One of these could not be confirmed on chromosomal analysis of the aborted fetus and was considered to be a cultural artefact. An additional five had chromosomal variants, also present in one of the parents. Cell culture failed completely in 3 cases. Ten of the chromosomally abnormal fetuses were aborted (one aborted spontan- eously) and also one fetus because of a meta- bolic defect, GM, — gangliosidosis. Of the 482 children delivered to this group, 14 were dysmature, 9 had congenital anomalies and 2 were stillborn. No congenital defect, that could have been diagnosed with the amnio- centesis procedure, was subsequently found. HEIMILDIR 1. Biering, G., Snædal, G.: Rhesusmál á Is- landi. Læknablaðið, fylgirit 10, feb. 1980. 2. Tulinius, H., Hauksdóttir, H. og Bjarnason, Ó.: Litningarannsóknir á vegum Erfða- fræðinefndar Háskólans og Rannsóknastofu Háskólans. Læknablaðið, vol. 54., 169-177, 1968. 3. Jensson, Ó., Hauksdóttir, H., Bjarnason, Ó. og Tulinius, H.: Yfirlit um litningarann- sóknir 1967—1975. Læknablaðið vol., 62, 127- 130, 1976. 4. Huddleston, J.F. and Carney, F.E.: Midtri- mester Amniocentesis and Culture of Am- niotic Fluid Cells. Clinical Obstetrics and Gynecology. Vol. 19. No. 4: pp. 941-956, des. 1976. 5. Nörregaard-Pedersen, B.: Perification and sensitive immunoelectrophoretical petectian and Quantitation of Human alphafaeto- protein. Clin.chim. acta 38: 163, 1972. 6. Seppálá, M.: Alpha fetoprotein in the amniotic fluid in relation to neural tube defects and other congenital/genetic dis- order of the fetus: bls 297 in Amniotic Fluid. Ecl. D.V., Fairweather, T.K.A.B. Esker Excerpta Medica 1978. 7. Monk, A.M. and Goldie, D.J.: The Signifi- cans of Raised Maternal Serum alpha-feto- protein Levels. B.J. Obst & Gyn 83 : 845-852, 1976. 8. Broch, D.J.H., Scrimgeour, J.B., Nelson, M.M.: Amniotic fluid alpha-fetoprotein measurements in the early prenatal dia- gnosis of Central nervous system disorders. Clinical Genetics 1975 : 7, 1963-169. 9. Goodnes, D.M.: Prenatal Genetic Diagnosis: A historic prespective. Clinical Obst. & Gyn. Vol. 19 no. 4 : 835-840, des. ’76. 10. Leoffler, F.E.: Amniocentesis. Journal of the Royal Society of Medicine, Vol. 72. Oct. 1979, 715-716. 11. Simpson, L.J., Martin, A.O.: Prenatal dia- gnosis of Cytogenetic disorders. Clinical Obst. & Gyn. Vol 19 No. 4: 855-879, des. ’76. 12. Goodner, D.M.: Prenatal Genetic diagnosis: Present and future. Clinical Obst. & Gyn. Vol. 19 No. 4 : 973-980, des. ’76.
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