Literature DB >> 26665572

[Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases].

Izabela Łaczmańska, Justyna Gil, Agnieszka Stembalska, Izabela Makowska, Joanna Kozłowska, Paweł Skiba, Halina Czemarmazowicz, Karolina Pesz, Ryszard Slęzak, Robert Smigiel, Aleksandra Jakubiak, Anna Doraczyńska-Kowalik, Maria M Sąsiadek.   

Abstract

UNLABELLED: The aim of the study was to assess whether commercial kit QF-PCR can be used as the only method for rapic prenatal dia gnosis of chromosomes 13, 18, 21, X and Y aneuploidies, omitting cell culture and complete cyt6genetik analysis of fetal chromosomes.
MATERIAL AND METHODS: DNA from amniocytes (94 cases) and trophoblast cells (6 cases) was analyzed witt QF-PCR according to the manufacturer's protocol. The obtained products were separated using ABI 310 Genetic Analyzer and the resulting data were analyzed using GeneMarker software.
RESULTS: The results of QF-PCR were obtained in 95 out of 100 cases (95%). Abnormalities were found in 28 casea (29.5%). All these results were confirmed in subsequent cytogenetic analysis. Normal results were obtained in 62 patients (70.5%). However in that group, we found three chromosomal aberrations other than those analyzed b3 QF-PCR. Additionally two abnormal and three normal karyotypes were found in patients with inconclusive QF-POF results.
CONCLUSIONS: QF-PCR is a fast and reliable tool for chromosomal aneuploidy analysis and can be used as the only method without a full analysis of the karyotype, but only in cases of suspected fetal 13, 18, 21 trisomy or numerica aberrations of X chromosome. In other cases, fetal karyotype analysis from cells obtained after cell culture should be offered to the patient.

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Year:  2015        PMID: 26665572     DOI: 10.17772/gp/59024

Source DB:  PubMed          Journal:  Ginekol Pol        ISSN: 0017-0011            Impact factor:   1.232


  1 in total

1.  Validation of QF-PCR for prenatal diagnoses in a Brazilian population.

Authors:  Renata Wendel de Moraes; Mario Henrique Burlacchini de Carvalho; Antonio Gomes de Amorim-Filho; Rossana Pulcineli Vieira Francisco; Renata Moscolini Romão; José Eduardo Levi; Marcelo Zugaib
Journal:  Clinics (Sao Paulo)       Date:  2017-07       Impact factor: 2.365

  1 in total

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