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Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception

BACKGROUND AND INTRODUCTION: Chromosomal abnormality is found in about half of first-trimester abortions. Karyotype is the gold standard to detect chromosomal abnormalities. Multiplex ligation-dependent probe amplification (MLPA) offers advantage over karyotype in terms of lower failure rate, faster...

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Detalles Bibliográficos
Autores principales: Saxena, D, Agarwal, M, Gupta, D, Agrawal, S, Das, V, Phadke, SR
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5105209/
https://www.ncbi.nlm.nih.gov/pubmed/27763481
http://dx.doi.org/10.4103/0022-3859.192664
Descripción
Sumario:BACKGROUND AND INTRODUCTION: Chromosomal abnormality is found in about half of first-trimester abortions. Karyotype is the gold standard to detect chromosomal abnormalities. Multiplex ligation-dependent probe amplification (MLPA) offers advantage over karyotype in terms of lower failure rate, faster turnaround time, and much higher resolution than conventional karyotyping and found to be 98% concordant with conventional karyotype. AIM: We performed this study to look for the utility of MLPA in diagnosing chromosomal abnormalities in first-trimester abortions. MATERIALS AND METHODS: MLPA using subtelomeric SALSA probe sets (P036 and P070) was used to detect cytogenetic abnormalities in products of conception in missed/spontaneous abortions. RESULTS: A total of ninety abortus samples were analyzed by MLPA. Successful results were provided in (67) 74.4% of the cases while no conclusion could be drawn in 25.6% (23) of the cases. Fifty-five (82.1%) cases were cytogenetically normal and 17.9% (12) had some abnormality. Aneuploidy was detected in 8 (66.7%) cases, 3 (25%) had double-segment imbalance, and one (8.3%) had partial aneuploidy. CONCLUSION: We suggest that MLPA is a good substitute to traditional karyotype.