title: [Effectiveness of multiplex ligation dependent probe amplification (MLPA) in prenatal diagnosis of common aneuploidies].
abstract: OBJECTIVE
  To assess the effectiveness of the MLPA method (multiplex ligation dependent probe amplification) in prenatal diagnosis of common aneuploidies and compare its concordance with traditional karyotyping.
  
  
  METHODS
  From October 2008 until July 2012 we performed 195 MLPA (MRC-Holland) tests with the P095 probe mix on DNA extracted from chorionic villi or amniotic fluid from pregnant women with elevated risk for abnormal fetal karyotype and 5 tests on miscarriage DNA samples. Cell culture and traditional karyotyping were performed in parallel.
  
  
  RESULTS
  Traditional karyotyping was successfully performed in 192 cases (98.5%; 192/195). In 52 cases the fetal karyotype was abnormal (26.8%). The most common findings included aneuploidies of the following chromosomes: 13, 18, 21, X, Y (86.5%, 45/52). There were 179 conclusive and 1 inconclusive MLPA result (92.3%; 180/195). The absolute specificity and sensitivity of the MLPA test were 100%. In 9 cases traditional karyotyping revealed aberrations impossible to detect with the MLPA P095 kit. The MLPA reaction was successfully performed on all miscarriage DNA samples.
  
  
  CONCLUSIONS
  MLPA is an effective method for detecting common aneuploidies. Its effectiveness for miscarriage DNA samples remains to be elucidated in further studies.
authors.affiliation: Zakład Genetyki Instytutu Psychiatrii i Neurologii w Warszawie, Polska.
authors.forename: Anna
authors.initials: A
authors.lastname: Jóźwiak
authors.forename: Julia
authors.initials: J
authors.lastname: Bijok
authors.forename: Diana
authors.initials: D
authors.lastname: Massalska
authors.forename: Barbara
authors.initials: B
authors.lastname: Pawłowska
authors.forename: Alicja
authors.initials: A
authors.lastname: Ilnicka
authors.forename: Joanna
authors.initials: J
authors.lastname: Bogdanowicz
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Masternak-Wasiuk
authors.forename: Grzegorz
authors.initials: G
authors.lastname: Jakiel
authors.forename: Tomasz
authors.initials: T
authors.lastname: Roszkowski
mesh_terms: D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis*; D000013:Congenital Abnormalities / Q000175:diagnosis; D005260:Female; D006801:Humans; D007621:Karyotyping; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*