Amniocentesis Precoz: Estudio Citogenético en 505 Embarazadas

Luz Mery Bernal Parra; Thomaz Rafael Gollop; Nadyr Naccache

doi:10.22490/24629448.490

Vol. 9 No. 15 (2011)

Published 2011-06-15

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Research Article (before OJS)

The Early Amniocentesis: Cytogenetic Study in 505 Pregnant Amniocentese Precoce: Estudo Citogenético Em 505 Gestantes

DOI: https://doi.org/10.22490/24629448.490

Luz Mery Bernal Parra

Thomaz Rafael Gollop

Nadyr Naccache

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Abstract
References

Cytogenetic diagnosis in amniotic fluid after early amniocentesis is an alternative to woman in the first trimester of pregnancy. The aim of this study was to ascertain the type and frequency of chromosomal aberrations in amniotic fluid samples collected after early amniocentesis (EA). In the period of five years, 531 EA were carried out in 505 patients (479 single and 26 multiple gestations) the gestational age of whom varied between 12 + 0/7 - 14 + 6/7 weeks + days. The main indication for offering the procedure was advanced maternal age (66.3% cases). Cultures were established in Chang or Amniomax media, using flask incubation. The time to obtain the cytogenetic preparations ranged from 7 to 22 days (15,5± 2.8m ±s.d.). At least 25 cells were analyzed per patient. The time to provide the cytogenetic results ranged from 12 to 25 days (18.7± 2.8 days, m ±s.d). The culture success rate was 98.7%. Abnormal karyotypes were identified in 22 cases (4.2%); three (0.6%) of these were balanced and 19 (3.6%) were unbalanced chromosomal rearrangements. The most frequent unbalanced chromosomal aberration was trisomy 21 (27.3%). Five cases of marker chromosomes were identified, three of which were mosaic. Six abnormal results found in chorionic villus sampling were confirmed. The frequency of pseudomosaicism was 2.3%. Our data confirm the accuracy of cytogenetic studies on amniotic fluid collected through EA. When established routine procedures and standardized protocols are used, the incidence of culture success increases significantly, and the mean time to deliver the results decreases.

keywords: prenatal diagnosis, early amniocentesis, chromosomal abnormalities. diagnóstico pré-natal, amniocentese precoce, anomalias cromossômicas.

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Bernal Parra, L. M., Gollop, T. R., & Naccache, N. (2011). The Early Amniocentesis: Cytogenetic Study in 505 Pregnant Amniocentese Precoce: Estudo Citogenético Em 505 Gestantes. NOVA Biomedical Sciences Journal, 9(15), 71-82. https://doi.org/10.22490/24629448.490

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The Early Amniocentesis: Cytogenetic Study in 505 Pregnant Amniocentese Precoce: Estudo Citogenético Em 505 Gestantes

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