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Chorion Villus: Sampling by D. Ian Rushton (auth.), D. T. Y. Liu MD FRCOG, E. M. Symonds

By D. Ian Rushton (auth.), D. T. Y. Liu MD FRCOG, E. M. Symonds MD FRCOG, M. S. Golbus MD (eds.)

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The value obtained was within the range for control villi and the prediction of an unaffected fetus was confirmed at amniocentesis. In the same paper the authors reported successful first trimester diagnosis of cystinosis by direct analysis of villi. The biopsy was e e 40 Structure and function e incubated overnight in 2 ml culture medium containing 5 S)-cystine, and then washed, lysed and tested for uptake of cystine by chromatography and autoradiography (Willcox and Patrick, 1974). The presence of a band in the region expected for cystine was diagnostic of the disease and the accuracy of the prediction was confirmed by analysis of fetal skin fibroblasts.

The effect of gestational age on enzyme activities in normal villi over the whole diagnostic period must be studied and consideration must be given to the fact that the disease-specific enzyme assays developed for amniotic cells may lack this specificity when applied to villi, particularly when artificial substrates are employed. In the development of methods for second-trimester diagnosis, enzymatic proper- 30 Structure and function ties of cultured fibroblasts from affected patients and their parents have been compared with those of normal amniotic cells, and this has been invaluable for optimizing the discrimination between affected, heterozygous and normal genotypes.

100, 535-48. ]. Histochem. , 28, 339-47. Clint, J. , Wakely, J. and Ockleford, C. D. (1979) Differentiated regions of human placental cell surface associated with attachment of chorionic villi, phagocytosis of matemal erythrocytes and syncytiotrophoblast repair. Proceedings of the Royal Society (B), 204, 345-53. Dearden, L. and Ockleford, C. D. ]. , 135, 850. Dearden, L. and Ockleford, C. D. (1983) Structure ofhuman trophoblast, correlation with function. In Biology ofTrophoblast (eds Y. W. Loke and A.

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