Evaluation of array comparative genomic hybridization for genetic analysis of chorionic villus sampling from pregnancy loss in comparison to karyotyping and multiplex ligation-dependent probe amplification.
OBJECTIVE
The aim of this study was to evaluate the use of array comparative genomic hybridization (aCGH) for genetic analysis of chorionic villus sampling (CVS) from pregnancy loss. aCGH results were compared with results from karyotyping and multiplex ligation-dependent probe amplification (MLPA) analysis to assess the suitability of aCGH as a method for detecting a variety of known chromosomal abnormalities. It was determined which technique gave the most valuable information.


METHODS
Twenty anonymised samples from CVS were analyzed by aCGH, MLPA, and karyotyping.


RESULTS
Ten cases were identified as normal by all three methods. Aneuploidy was detected in four cases by all three methods. Partial deletion and duplication was detected in two cases by aCGH and karyotyping but missed by MLPA. In addition, mosaicism was detected by aCGH in 3 of 20 cases missed by MLPA and karyotyping.


CONCLUSIONS
aCGH is a rapid, automated, reliable, high-resolution technique to diagnose unbalanced chromosomal abnormalities. In this study, aCGH analysis accurately identified all chromosomal abnormalities in CVS from pregnancy loss, suggesting that it is suitable in the clinical setting for prenatal diagnosis.
Deshpande
Maitreyee
M
UCL Centre for PG&D, Institute for Women's Health, University College London, London, United Kingdom.
Harper
Joyce
J
Holloway
Melissa
M
Palmer
Rodger
R
Wang
Rubin
R
D000022:Abortion, Spontaneous / Q000235:genetics*; D000782:Aneuploidy; D015193:Chorionic Villi Sampling / Q000379:methods*; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D006801:Humans; D007621:Karyotyping / Q000379:methods; D009030:Mosaicism; D021141:Nucleic Acid Amplification Techniques / Q000379:methods; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods*; D011247:Pregnancy