[Effectiveness of multiplex ligation dependent probe amplification (MLPA) in prenatal diagnosis of common aneuploidies].

Abstract

OBJECTIVES:

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.

MATERIAL AND 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: Anna Jóźwiak, Julia Bijok, Diana Massalska, Barbara Pawłowska, Alicja Ilnicka, Joanna Bogdanowicz, Katarzyna Masternak-Wasiuk, Grzegorz Jakiel, Tomasz Roszkowski
• Journal: Ginekologia polska (Ginekol Pol) Vol. 84 Issue 8 Pg. 682-90 (Aug 2013) ISSN: 0017-0011 [Print] Poland
• Vernacular Title: Analiza efektywności techniki MLPA w inwazyjnej diagnostyce prenatalnej najczestszych aneuploidii.
• PMID: 24191501 (Publication Type: English Abstract, Journal Article)

Topics

• Aneuploidy
• Chromosome Aberrations
• Chromosome Disorders (diagnosis)
• Congenital Abnormalities (diagnosis)
• Female
• Humans
• Karyotyping
• Multiplex Polymerase Chain Reaction (methods)
• Pregnancy
• Prenatal Diagnosis (methods)