Antenatal diagnosis of genetic disease / edited by A.E.H. Emery.

Date:
1973
Catalogue details

Licence: Attribution-NonCommercial 4.0 International (CC BY-NC 4.0)

Credit: Antenatal diagnosis of genetic disease / edited by A.E.H. Emery. Source: Wellcome Collection.

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    INDEX 163 maternal tissue contamination and, 74, 75, 85, 89 method of, 69, 158-159 plating efficiency and, 70 polyploidy and, 78 problems in, 89, 91 results of, 70 sterility required in, 74 stimulation of, 73 success rate of, 70-71 cystine incorporation of, 103, 106 diagnoses made using, 92-105 fixation of, 157 gestation and, 59 harvesting of, 89, 91 hypoxanthine incorporation by, 101 isolation and purification of, 85-86 metachromasia in, 99, 100, 159-160 morphology of, 58-59, 60, 72 origin of, 58, 72 pre-Lyonization state in, 92 sulphate incorporation of, 100 uncultured, 85-88 abnormalities expressed in, 95, 97, 98, 102 and antenatal diagnosis, 95, 97, 102 enzymes in, 87-88, 95, 97, 98, 102 viability of, 60, 61, 70, 72, 85 gestation and, 72 Anencephaly {see also Central nervous system malformations) amniotic fluid changes in, 125, 127, 128, 129 diagnosis of, 40 using fetoscopy, 50 using ultrasonography, 53 hydramnios in, 12, 41 recurrence risks in, 148 Angiokeratoma corporis diffusum {see Fabry's disease) Aristotle, 1 Ashkenazi Jews {see Tay-Sachs disease) Atebrin {see Chloroquin) Autoradiography, 101, 103 Autosomal disorders prevention of, 143 Autosomal dominant disorders, amniocentesis in, 7 Autosomal recessive disorders, amniocentesis in, 7 risk estimation in, 146 Barr body {see Sex chromatin body) Bayesian method of risk estimation, 147 Becker muscular dystrophy, 7 Bilirubin, 18, 71 and amniotic fluid cell culture, 71 effect on amniotic fluid cells, 71 in amniotic fluid, 52, 127-128 Biopsy amnion, 45-49, 78 chorion, 78 chorionic villi, 46, 47, 49 fetal, 55, 78, 108 placental, 45-49, 78 Bisalbuminaemia, 120 Bladder preparation for amniocen¬ tesis, 14-15, 17, 29 Bladder preparation for fetoscopy, 50 Carrier detection, 6-7, 101-103, 106, 125, 146-147 in autosomal recessive disorders, 7 in Fabry's disease, 102 in haemophilia, 106, 125 in Lesch-Nyhan syndrome, 100-101 using skin fibroblasts, 101, 102 in X-linked disorders, 100-102, 106, 125 X-chromosome inactivation and, 106 Central nervous system malformations, 125-130 amniotic fluid and, 125-130 bilirubin content of, 127-128 catecholamine content of, 128- 129 5-hydroxyindole acetic acid con¬ tent of, 129, 130 phospholipid content of, 130 steroid content of, 129 fetoscopy for, 50, 52 hydramnios in, 128, 130 X-ray diagnosis of, 40-41 Ceramide trihexoside, 102 Chloroquin use in sex determination, 63, 75, 158 Chorionic villi biopsy, 46, 47, 49 Chromosomal abnormalities, 8, 77-78 amniocentesis for, 4, 8, 9, 75, 76 and mosaicism, 8, 76 and rubella outbreak, 76 and spontaneous abortion, 78 in Down's syndrome, 8 prevention of, 143 screening tests for, 76, 139-141