title: First-trimester spontaneous pregnancy loss - molecular analysis using multiplex ligation-dependent probe amplification.
abstract: Spontaneous miscarriages are the most frequent complications of pregnancy and, in at least half of cases, are caused by chromosomal abnormalities, mainly aneuploidies. We present the preliminary results of the implementation of multiplex ligation-dependent probe amplification (MLPA) in the detection of chromosomal aberrations in the tissue derived from first-trimester miscarriage and evaluate the limitations and requirements of the method. We studied 181 MLPA analyses with subtelomeric and subcentromeric probe kits for all chromosomes (SALSA P070 and SALSA P181) performed on the first-trimester spontaneous miscarriage products in our Department of Genetics between September 2012 and December 2014. Conclusive MLPA results were obtained in 97.2% of samples. Chromosomal aberrations were detected in 40.3% of samples: 61.8% samples of good quality and 12.6% samples of poor quality (p < 0.001). The normal female karyotype was detected in 14.7% of good quality samples and 84.8% of poor quality samples (p < 0.001). MLPA is a useful tool for the detection of chromosomal aberrations in first-trimester miscarriage products. However, the tissue has to be well prepared before testing and the results 46,XX should be interpreted with caution.
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: J G
authors.initials: JG
authors.lastname: Zimowski
authors.affiliation: Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: D
authors.initials: D
authors.lastname: Massalska
authors.affiliation: Department of Genetics, Institute of Psychiatry and Neurology, Warsaw, Poland.
authors.forename: M
authors.initials: M
authors.lastname: Pawelec
authors.affiliation: Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: J
authors.initials: J
authors.lastname: Bijok
authors.affiliation: Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: A
authors.initials: A
authors.lastname: Michałowska
authors.affiliation: Department of Obstetrics and Gynecology, Centre of Postgraduate Medical Education, Warsaw, Poland.
authors.forename: T
authors.initials: T
authors.lastname: Roszkowski
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics*; D000782:Aneuploidy; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D007621:Karyotyping; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D011123:Polyploidy; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D015203:Reproducibility of Results
keywords: aneuploidies; miscarriage; molecular diagnosis; multiplex ligation-dependent probe amplification (MLPA)