title: [Rapid-FISH--fast and reliable method of detecting common numerical chromosomal aberrations in prenatal diagnosis].
abstract: OBJECTIVE
  In recent years, new possibilities of prenatal diagnosis have opened up, due to the development of techniques which guarantee shorter time of obtaining results. One of those methods, called Rapid-FISH (rapid fluorescence in situ hybridization), for detecting numerical aberrations of chromosomes 13, 18, 21, X and Y without culturing, enables to have the results in 2-5 days. The time necessary to obtain fetal karyotype result with the usage of the classical cytogenetic methods is about 2-3 weeks and depends mainly on the culture growth rate.
  
  
  METHODS
  The aim of the study was to evaluate the effectiveness of the Rapid-FISH technique in detecting numerical chromosome aberrations of 13, 21, 18, X and Y in amniocytes' nuclei from amniotic fluid.
  
  
  METHODS
  Rapid-FISH and cytogenetic analysis has been performed for 161 pregnancies in the Department of Genetics at Wroclaw Medical University during years 2005 and 2006. The FISH was performed using AneuVysion kit (Vysis), according to a standard protocol.
  
  
  RESULTS
  All normal and abnormal results were confirmed by classical cytogenetic method (GTG banding and karyotyping). Additional chromosomal aberrations, not possible to be detected in FISH, were observed in case of two patients with normal results from FISH analysis.
  
  
  CONCLUSIONS
  Rapid-FISH is a reliable and fast method for detecting numerical chromosomal aberrations in prenatal diagnosis and should be implemented as a routine diagnostic procedure in pregnancies with high risk of fetal aneuploidy (of chromosomes 13, 18, 21, X i Y).
authors.affiliation: Katedra i Zakład Genetyki, Akademia Medyczna we Wrocławiu. lacz@gen.am.wroc.pl
authors.forename: Izabela
authors.initials: I
authors.lastname: Laczmańska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Stembalska
authors.forename: Ryszard
authors.initials: R
authors.lastname: Slezak
authors.forename: Joanna
authors.initials: J
authors.lastname: Kozłowska
authors.forename: Izabela
authors.initials: I
authors.lastname: Makowska
authors.forename: Halina
authors.initials: H
authors.lastname: Czemarmazowicz
authors.forename: Karolina A
authors.initials: KA
authors.lastname: Pesz
authors.forename: Robert
authors.initials: R
authors.lastname: Smigiel
authors.forename: Anna
authors.initials: A
authors.lastname: Jakiel
authors.forename: Maria Małgorzata
authors.initials: MM
authors.lastname: Sasiadek
mesh_terms: D000328:Adult; D002869:Chromosome Aberrations; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D011044:Poland; D011237:Predictive Value of Tests; D011247:Pregnancy; D018566:Pregnancy, High-Risk; D011295:Prenatal Care / Q000379:methods; D011296:Prenatal Diagnosis / Q000379:methods*; D012189:Retrospective Studies; D012680:Sensitivity and Specificity