Detection of sex chromosome aneuploidies using quantitative fluorescent PCR in the Hungarian population

B. Nagy, Richard Gyula Nagy, Levente Lazar, Julianna Schonleber, C. Papp, J. Rigó

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Background: Aneuploidies are the most frequent chromosomal abnormalities at birth. Autosomal aneuploidies cause serious malformations like trisomy 21, trisomy 18 and trisomy 13. However sex chromosome aneuploidies are causing less severe syndromes. For the detection of these aneuploidies, the "gold standard" method is the cytogenetic analysis of fetal cells, karyograms show all numerical and structural abnormalities, but it takes 2-4. weeks to get the reports. Molecular biological methods were developed to overcome the long culture time, thus, FISH and quantitative fluorescent PCR were introduced. In this work we show our experience with a commercial kit for the detection of sex chromosome aneuploidies. Methods: We analyzed 20.173 amniotic fluid samples for the period of 2006-2013 in our department. A conventional cytogenetic analysis was performed on the samples. We checked the reliability of quantitative fluorescent PCR and DNA fragment analysis on those samples where sex chromosomal aneuploidy was diagnosed. Results: From the 20.173 amniotic fluid samples we found 50 samples with sex chromosome aneuploidy. There were 19 samples showing 46, XO, 17 samples with 46, XXY, 9 samples with 47, XXX and 5 samples with 47, XYY karyotypes. The applied quantitative fluorescent PCR and DNA fragment analyses method are suitable to detect all abnormal sex chromosome aneuploidies. Conclusions: Quantitative fluorescent PCR is a fast and reliable method for detection of sex chromosome aneuploidies.

Original languageEnglish
Pages (from-to)2-6
Number of pages5
JournalClinica Chimica Acta
Volume445
DOIs
Publication statusPublished - May 1 2015

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Sex Chromosomes
Aneuploidy
Polymerase Chain Reaction
Population
Cytogenetic Analysis
Fluids
Amniotic Fluid
DNA
XYY Karyotype
Down Syndrome
Chromosome Aberrations
Parturition

Keywords

  • Aneuploidies
  • Prenatal diagnosis
  • Quantitative fluorescent-PCR
  • Sex chromosomes
  • Small tandem repeats

ASJC Scopus subject areas

  • Biochemistry
  • Clinical Biochemistry
  • Biochemistry, medical

Cite this

Detection of sex chromosome aneuploidies using quantitative fluorescent PCR in the Hungarian population. / Nagy, B.; Nagy, Richard Gyula; Lazar, Levente; Schonleber, Julianna; Papp, C.; Rigó, J.

In: Clinica Chimica Acta, Vol. 445, 01.05.2015, p. 2-6.

Research output: Contribution to journalArticle

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AB - Background: Aneuploidies are the most frequent chromosomal abnormalities at birth. Autosomal aneuploidies cause serious malformations like trisomy 21, trisomy 18 and trisomy 13. However sex chromosome aneuploidies are causing less severe syndromes. For the detection of these aneuploidies, the "gold standard" method is the cytogenetic analysis of fetal cells, karyograms show all numerical and structural abnormalities, but it takes 2-4. weeks to get the reports. Molecular biological methods were developed to overcome the long culture time, thus, FISH and quantitative fluorescent PCR were introduced. In this work we show our experience with a commercial kit for the detection of sex chromosome aneuploidies. Methods: We analyzed 20.173 amniotic fluid samples for the period of 2006-2013 in our department. A conventional cytogenetic analysis was performed on the samples. We checked the reliability of quantitative fluorescent PCR and DNA fragment analysis on those samples where sex chromosomal aneuploidy was diagnosed. Results: From the 20.173 amniotic fluid samples we found 50 samples with sex chromosome aneuploidy. There were 19 samples showing 46, XO, 17 samples with 46, XXY, 9 samples with 47, XXX and 5 samples with 47, XYY karyotypes. The applied quantitative fluorescent PCR and DNA fragment analyses method are suitable to detect all abnormal sex chromosome aneuploidies. Conclusions: Quantitative fluorescent PCR is a fast and reliable method for detection of sex chromosome aneuploidies.

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