title: [Rapid diagnosis of the most common fetal aneuploidies with the QF-PCR method--a study of 100 cases].
abstract: 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.
  
  
  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.
authors.forename: Izabela
authors.initials: I
authors.lastname: Łaczmańska
authors.forename: Justyna
authors.initials: J
authors.lastname: Gil
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Stembalska
authors.forename: Izabela
authors.initials: I
authors.lastname: Makowska
authors.forename: Joanna
authors.initials: J
authors.lastname: Kozłowska
authors.forename: Paweł
authors.initials: P
authors.lastname: Skiba
authors.forename: Halina
authors.initials: H
authors.lastname: Czemarmazowicz
authors.forename: Karolina
authors.initials: K
authors.lastname: Pesz
authors.forename: Ryszard
authors.initials: R
authors.lastname: Slęzak
authors.forename: Robert
authors.initials: R
authors.lastname: Smigiel
authors.forename: Aleksandra
authors.initials: A
authors.lastname: Jakubiak
authors.forename: Anna
authors.initials: A
authors.lastname: Doraczyńska-Kowalik
authors.forename: Maria M
authors.initials: MM
authors.lastname: Sąsiadek
mesh_terms: D000782:Aneuploidy; D025063:Chromosome Disorders / Q000175:diagnosis* / Q000235:genetics; D002904:Chromosomes, Human, 21-22 and Y; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D004247:DNA / Q000032:analysis; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D025064:Sex Chromosome Disorders / Q000175:diagnosis; D013997:Time Factors; D014314:Trisomy / Q000175:diagnosis; D000073839:Trisomy 13 Syndrome
chemical_list: D004247:DNA