Abstract
Trophoblast sampling during the first trimester of pregnancy has provided a new kind of fetal material for the prenatal diagnosis of genetic diseases. Studies on chorionic villi sampling (CVS) and trophoblastic cell culture were reported in the early 1970s by Kullander and Sandhal (1973) and by Hahnemann (1974) (Table 1), but while chorionic villi proved to be obtainable, throphoblastic cells showed low growth potential under culture conditions, with the result that cultures of nearly half the samples failed. It followed that cytogenetic analysis was limited to fetal sex prediction by X and Y chromatin assays. In addition, the identification and selection of pure fetal material was not easy, and it was soon realized that maternal cell contamination of trophoblast cultures was a serious problem that occurs much more frequently than with amniotic fluid cell cultures. Because of these technical difficulties, investigations were confined to experimental materials, and CVS was not used for the diagnosis of chromosomal abnormalities until 1983 (Brambati and Simoni 1983)
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
Preview
Unable to display preview. Download preview PDF.
References
Brambati B, Simoni G (1983) Diagnosis of fetal trisomy 21 in first trimester. Lancet I: 586
Chang H-C, Jones OW, Masui H (1982) Human amniotic fluid cells grown in a hormone-supplemented medium: suitability for prenatal diagnosis. Proc Natl Acad Sci USA 79: 4795–4799
Coleman DV, Path MRC (1982) Endocervical lavage in early pregnancy. Am J Obstet Gynecol 142: 118–119
Department of Obstetric and Gynecology, Anshan (1975) Fetal sex prediction by sex chromatin of chorionic villi cells during early pregnancy. Chin Med J (Engl) 1: 117–126
Evans EP, Burtenshaw MD, Fird CE (1972) Chromosomes of mouse embryos and newborn young: preparations from membranes and tail tips. Stain Technol 47: 229–234
Fox M, Zeiss M (1961) Chromosome preparation from fresh and cultured tissues using a modification of the drying technique. Nature 192: 1213–1214
Goldberg MF, Chen ATL, Ahn YW, Reidy JA (1980) First trimester fetal chromosomal diagnosis using endocervical lavage: a negative evaluation. Am J Obstet Gynecol 138: 436–440
Gregson NM, Seabright M (1983) Handling chorionic villi for direct chromosome studies. Lancet II: 1491
Hahnemann N (1974) Early prenatal diagnosis: a study of biopsy techniques and cell culturing from extraembryonic membranes. Clin Genet 6: 294–306
Kazy Z, Rozovsky IS, Bakharev VA (1982) Chorion biopsy in early prenatal diagnosis of inherited disorders. Prenatal Diagnosis 2: 39–45
Kullander S, Sandahl B (1973) Fetal chromosome analysis after transcervical placental biopsies during early pregnancy. Acta Obstet Gynec Scand 52: 355–359
Niazi M, Coleman DV, Loeffler FE (1981) Trophoblast sampling in early pregnancy. Culture of rapidly dividing cells from immature placental villi. Br J Obstet Gynecol 88: 1081–1085
Rhine SA, Cain JL, Cleary RE, Palmer CG, Thompson T (1975) Prenatal sex detection with endocervical smears. Successful resulting utilizing Y-body fluorescence. Am J Obstet Gynecol 122: 155–160
Rhine SA, Palmer CG, Thompson JF (1977) A simple first trimester alternative to amniocentesis for prenatal diagnosis. Birth Defects, XII 3D: 231–247
Sachs ES, Van Hemel JO, Galjaard H, Niermeijer MF, Jahoda MGJ (1983) First trimester chromosomal analysis of complex structural rearrangements with RHA banding on chorionic villi. Lancet II: 1426
Simoni G, Grambati B, Danesino C, Rossella F, Terzoli GL, Ferrari M, Fraccaro M (1983) Effi¬cient direct chromosome analysis and enzyme determinations from chorionic villi samples in the first trimester of pregnancy. Hum Genet 63: 349–357
Simoni G, Brambati B, Danesino C, Terzoli GL, Romitti L, Rossella F, Fraccaro M (1984) Diagnostic application of first trimester trophoblast sampling in 100 pregnancies. Hum Genet 66: 252–259
Watanabe M, Ito T, Yamamoto M, Watanabe G (1978) Origin of mitotic cells of chorionic villi in direct chromosome analysis. Hum Genet 44: 191–193
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 1985 Springer-Verlag Berlin Heidelberg
About this paper
Cite this paper
Simoni, G. et al. (1985). Cytogenetics of Chorionic Villi Sampling: Technical Developments and Diagnostic Applications. In: Fraccaro, M., Simoni, G., Brambati, B. (eds) First Trimester Fetal Diagnosis. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-70707-0_17
Download citation
DOI: https://doi.org/10.1007/978-3-642-70707-0_17
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-15785-4
Online ISBN: 978-3-642-70707-0
eBook Packages: Springer Book Archive