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| ORIGINAL ARTICLE |
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| Year : 2016 | Volume
: 62
| Issue : 4 | Page : 239-241 |
Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception
D Saxena1, M Agarwal2, D Gupta1, S Agrawal3, V Das3, SR Phadke1
1 Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India
2 GenePath Dx Causeway Healthcare Ltd., Pune, Maharashtra, India
3 Department of Obstetrics and Gynaecology, King George's Medical University, Lucknow, Uttar Pradesh, India
Correspondence Address:
Dr. S R Phadke
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0022-3859.192664
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.
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