MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages
Objective The present study aims to validate multiplex ligation‐dependent probe amplification (MLPA) technique with subtelomeric probe mixes as a screening method to detect aneuploidy and unbalanced terminal chromosomal rearrangements in spontaneous abortions (SAs). Methods MLPA with P036B and P070...
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Published in | Prenatal diagnosis Vol. 27; no. 8; pp. 765 - 771 |
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Main Authors | , , , , , , |
Format | Journal Article |
Language | English |
Published |
Chichester, UK
John Wiley & Sons, Ltd
01.08.2007
Wiley |
Subjects | |
Online Access | Get full text |
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Summary: | Objective
The present study aims to validate multiplex ligation‐dependent probe amplification (MLPA) technique with subtelomeric probe mixes as a screening method to detect aneuploidy and unbalanced terminal chromosomal rearrangements in spontaneous abortions (SAs).
Methods
MLPA with P036B and P070 probe mixes was performed on 221 miscarriage DNA samples between the 5th and 24th week of gestation. Cytogenetic culture was attempted on 178 miscarriages. Karyotyped miscarriages served as controls in this blinded study. Results were confirmed by quantitative fluorescent‐PCR (QF–PCR).
Results
Among the karyotyped miscarriages, MLPA was able to detect all the expected aneuploidies, as well as an unbalanced product from a reciprocal translocation, and revealed cryptic deletions and duplications not visible at the 550‐band resolution level. In addition, chromosomal anomalies were found in ∼37% of cases that failed to grow or could not be cultivated. As expected, ploidy changes were not detected. Copy number variation was found for target sequences of P036B (CYFIP1, MRPL41, CAB45) and P070 (DECR2, TNFRSF18) probe mixes.
Conclusions
We propose the use of MLPA with subtelomeric probe mixes as a reliable, rapid and economical first approach to detect aneuploidy and unbalanced terminal chromosomal rearrangements in SAs. Copyright © 2007 John Wiley & Sons, Ltd. |
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Bibliography: | ark:/67375/WNG-PR72LCTJ-T ArticleID:PD1777 FIS - No. PI05/0263; No. PI05/0408; No. C03/05 istex:20A155A1B383049E28AEA4F99450051C20757EAE ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23 |
ISSN: | 0197-3851 1097-0223 |
DOI: | 10.1002/pd.1777 |