Rapid fetal karyotype from cystic hygroma and pleural effusions |
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Authors: | D Costa A Borrell E Margarit A Carrió A Soler I Balmes X Estivill A Fortuny |
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Institution: | 1. Department of Obstetrics and Gynecology, Hospital Clinic, University of Barcelona, Catalonia, Spain;2. Prenatal Diagnosis Unit, Genetic Service, Hospital Clinic, University of Barcelona, Catalonia, Spain |
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Abstract: | Fluid from pleural effusion (n=2) and cystic hygroma (n=7) was obtained from eight fetuses, between 13 and 32 weeks of pregnancy at the time when a conventional prenatal diagnosis procedure was carried out. As these fluids contain lymphocytes, they were processed like peripheral blood. A karyotype was obtained in 4 days in both cases of pleural effusion and in four out of seven samples of cystic hygroma. An abnormal karyotype was detected in three of the four samples of cystic hygroma: two trisomies 21 and a monosomy X. Different parameters were evaluated in order to predict the feasibility of obtaining a cytogenetic diagnosis. Our data showed that if the amount of fluid obtained was ?4 ml and the initial lymphocyte count (ILC) was >0.2 × 106 cells/ml, a cytogenetic diagnosis was possible from an initial concentration of cultured lymphocytes )ICCL) of >0.06 × 106 cells/ml. |
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Keywords: | Prenatal diagnosis rapid karyotype pleural effusion cystic hygroma |
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