title: Detection of sex chromosome aneuploidies using quantitative fluorescent PCR in the Hungarian population.
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.
authors: 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary. Electronic address: nagy.balint@noi1.sote.hu.
authors: Balint
authors: B
authors: Nagy
authors: 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary.
authors: Richard Gyula
authors: RG
authors: Nagy
authors: 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary.
authors: Levente
authors: L
authors: Lazar
authors: 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary.
authors: Julianna
authors: J
authors: Schonleber
authors: 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary.
authors: Csaba
authors: C
authors: Papp
authors: 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary.
authors: Janos
authors: J
authors: Rigo
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry; D000782:Aneuploidy; D005260:Female; D005333:Fetus; D005453:Fluorescence; D006801:Humans; D006814:Hungary / Q000453:epidemiology; D007621:Karyotyping; D016133:Polymerase Chain Reaction / Q000379:methods; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012730:Sex Chromosomes / Q000737:chemistry* / Q000473:pathology
keywords: Aneuploidies; Prenatal diagnosis; Quantitative fluorescent-PCR; Sex chromosomes; Small tandem repeats