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MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages
Author(s) -
DiegoAlvarez Dan,
de Alba Marta Rodriguez,
CarderoMerlo Rocio,
DiazRecasens Joaquin,
Ayuso Carmen,
Ramos Carmen,
LordaSanchez Isabel
Publication year - 2007
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1777
Subject(s) - multiplex ligation dependent probe amplification , subtelomere , aneuploidy , biology , cytogenetics , multiplex , miscarriage , genetics , microbiology and biotechnology , chromosome , pregnancy , gene , exon
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.