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Rapid fetal karyotype from cystic hygroma and pleural effusions
Author(s) -
Costa D.,
Borrell A.,
Margarit E.,
Carrió A.,
Soler A.,
Balmes I.,
Estivill X.,
Fortuny A.
Publication year - 1995
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970150206
Subject(s) - cystic hygroma , karyotype , prenatal diagnosis , fetus , effusion , pleural effusion , medicine , trisomy , monosomy , aneuploidy , pleurisy , turner syndrome , pathology , pregnancy , andrology , chromosome , biology , surgery , genetics , gene
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 × 10 6 cells/ml, a cytogenetic diagnosis was possible from an initial concentration of cultured lymphocytes )ICCL) of >0.06 × 10 6 cells/ml.