Rapid fetal karyotype from cystic hygroma and pleural effusions

D. Costa, A. Borrell, E. Margarit, A. Carrió, A. Soler, I. Balmes, X. Estivill, A. Fortuny

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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.

Original languageEnglish
Pages (from-to)141-148
Number of pages8
JournalPrenatal Diagnosis
Volume15
Issue number2
DOIs
Publication statusPublished - Feb 1995

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Keywords

  • Prenatal diagnosis
  • cystic hygroma
  • pleural effusion
  • rapid karyotype

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Genetics(clinical)

Cite this

Costa, D., Borrell, A., Margarit, E., Carrió, A., Soler, A., Balmes, I., Estivill, X., & Fortuny, A. (1995). Rapid fetal karyotype from cystic hygroma and pleural effusions. Prenatal Diagnosis, 15(2), 141-148. https://doi.org/10.1002/pd.1970150206