title: [Usefulness of MLPA technique for rapid prenatal detection of aneuploidy. Results of 409 diagnostic studies].
abstract: OBJECTIVE
  The study was aimed to determine diagnostic application of MLPA for rapid prenatal identification of chromosome 13, 18, 21 and X and Y aneuploidies.
  
  
  METHODS
  409 amniotic fluid samples from amniocentesis for fetal karyotyping were studied. DNA was isolated using the QIAmp DNA Blood Midi Kit (348 samples) or through proteinase K treatment (61 samples). SALSA MLPA P095 probes (mrc-Holland) were used to detect aneuploidy
  
  
  RESULTS
  In 324 studies (79.2%) diagnostic results were obtained. Chromosomal aberrations were found in 16 cases (4.9%). These results were concordant with standard karyotype. In 3 cases (0.92%) false negative results were found but all abnormalities were undetectable with MLPA.
  
  
  CONCLUSIONS
  MLPA is a reliable method of rapid prenatal detection of aneuploidy
authors.affiliation: Zakład Genetyki Medycznej, Instytut Matki i Dziecka w Warszawie, Polska. ewa.bocian@imid.med.pl
authors.forename: Ewa
authors.initials: E
authors.lastname: Bocian
authors.forename: Justyna
authors.initials: J
authors.lastname: Kasprzycka
authors.forename: Krystyna
authors.initials: K
authors.lastname: Jakubów-Durska
authors.forename: Alicja
authors.initials: A
authors.lastname: Łuszczek
authors.forename: Joanna
authors.initials: J
authors.lastname: Bernaciak
mesh_terms: D000649:Amniocentesis / Q000379:methods*; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis*; D002882:Chromosomes, Human, Pair 13; D002887:Chromosomes, Human, Pair 18; D002891:Chromosomes, Human, Pair 21; D041321:Chromosomes, Human, X; D041322:Chromosomes, Human, Y; D005260:Female; D006801:Humans; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011044:Poland; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012307:Risk Factors