Fluorescence in situ hybridization (fISH) in samples of amniotic fluid obtained by early amniocentesis

Hibridación in situ por fluorescencia (fish) en muestras de líquido amniótico obtenido por amniocentesis precoz

Published 2011-12-31

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Vol. 9 No. 16 (2011)
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Artículo Original
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Bernal Parra, L. M., Gollop, T. R., & Naccache, N. (2011). Fluorescence in situ hybridization (fISH) in samples of amniotic fluid obtained by early amniocentesis. NOVA, 9(16). https://doi.org/10.22490/24629448.495
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Luz Mery Bernal Parra
    Thomaz Rafael Gollop
      Nadyr Naccache
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        Fluorescent in situ hybridization can be used to diagnose prenatally the most frequent aneuploidies. Nucleic from non-cultivated fetal cells are used. This is an important advance in prenatal diagnosis. We describe the application of FISH in 15 non-cultivated amniotic fluid samples collected between 12 ± 5/7 and 14 6/7 weeks (m ± 1 s.d. = 13.63 ± 0,52). Amniotic fluid volume ranged from 2 to 4 ml (3,16 ± 0.58). All indications were advanced maternal age. The time to obtain the results ranged from 1 to 5 days (2.13 ± 1.55 days). The times to deliver the cytogenetic results ranged from 13 to 22 days (18.4 ± 3.2). In total, 14 cases (93.33%) were informative. The five aneuploidies diagnosed by FISH were confirmed after the  traditional cytogenetic analysis. However, the cytogenetic analysis identified one balanced chromosomal rearrangement [46,XY,t(16;17)(q24;q12)pat] and a case of mosaicism 46.XX/47.XX,+mar. Conducting FISH requires many steps that may prevent results from being obtained; the most important of these steps is to obtain an enough number of nucleic for hybridization. We conclude that the study of aneuploidies in non-cultivated amniocytes should be introduced to the prenatal diagnosis protocol in pregnant women with an increased risk of conceiving an aneuploid fetus.

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        29. DOI: http://dx.doi.org/10.22490/24629448.495
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