title: [Rapid detection of most frequent chromosomal aneuploidies by the multiplex QF PCR method in the first trimester of pregnancy].
abstract: OBJECTIVE
  Rapid detection of most frequent aneuploidies by the multiplex QF PCR method in non-cultured samples of chorial tissue. Summarized results of QF PCR method applied in the management of care of pregnant women in the first trimester of pregnancy.
  
  
  METHODS
  An original contribution.
  
  
  METHODS
  Institute of Medical Genetics and Fetal Medicine, Faculty Hospital and Medical Faculty, Palacky University Olomouc.
  
  
  METHODS
  The samples of chorial tissue were obtained from 101 pregnant women. Non-cultured samples were processed by the multiplex QF PCR method. STR loci of chromosomes 13, 18, 21 and X and Y were analyzed. These markers were amplified in two separate multiplex PCR reactions under the same conditions and subjected to fragmentation analysis in capillary electrophoresis.
  
  
  RESULTS
  All 101 analyzed samples of chorial tissue were successfully amplified. In this group, 16 pathologies of the fetuses were detected by the multiplex QF PCR method. Triploidy was detected in two cases, trisomy of chromosome 21--Down syndrome was found in seven cases, and trisomy of chromosome 18--Edwards syndrome was found in six cases and monosomy of gonosome X--the Turner' s syndrome was revealed once.
  
  
  CONCLUSIONS
  The multiplex QF PCR method is an indispensable part of the screening of the first trimester and provides a rapidly available and reliable result in the examined patients.
authors.affiliation: Institute of Medical Genetics and Fetal Medicine, Faculty Hospital, Palacky University Olomouc.
authors.forename: D
authors.initials: D
authors.lastname: Vrbická
authors.forename: R
authors.initials: R
authors.lastname: Vodicka
authors.forename: R
authors.initials: R
authors.lastname: Vrtel
authors.forename: I
authors.initials: I
authors.lastname: Dhaifalah
authors.forename: J
authors.initials: J
authors.lastname: Santavý
mesh_terms: D000782:Aneuploidy; D015193:Chorionic Villi Sampling; D025063:Chromosome Disorders / Q000175:diagnosis*; D005260:Female; D006801:Humans; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D020080:Tandem Repeat Sequences