Abstract
First trimester fetal chromosome analysis has been successfully carried out for 180 patients in our center. Cytogenetic studies of chorionic villi have been greatly facilitated by the observation of Brambati and Simoni (1983) that direct preparations after sampling are possible. This method is a great improvement for parents at high risk of producing offspring with anomalies, such as carriers of a translocation or an X-linked disease. Termination of pregnancy in the case of an abnormal fetal karyotype is now possible at 9 weeks instead of at 19 weeks of gestation, after the cultivation of amniotic fluid cells. We report here the results of 180 pregnancies at risk for a chromosomal anomaly or an X-linked disease, with special emphasis on unbalanced fetal translocations, the demonstration of a fragile X chromosome in villi and DNA linkage studies of a male fetus at risk for Duchenne’s muscular dystrophy.
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© 1985 Springer-Verlag Berlin Heidelberg
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Sachs, E.S., Van Hemel, J.O., Jahoda, M.G.J., Galjaard, H. (1985). Results of 180 First Trimester Direct Chromosome Studies in Chorionic Villi. 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_19
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DOI: https://doi.org/10.1007/978-3-642-70707-0_19
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-540-15785-4
Online ISBN: 978-3-642-70707-0
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