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Genetic Analysis of Products of Conception Using a HLPA/SNP-array Strategy

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Genetic Analysis of Products of Conception Using a HLPA/SNP-array Strategy

Jun Mao et al. Mol Cytogenet.

Abstract

Background: Fetal chromosomal abnormalities was the most frequent cause of miscarriage, and the traditional testing method G-banded karyotyping has limitations. Then high-throughput ligation-dependent probe amplification (HLPA) and single nucleotide polymorphism array (SNP-array) were introduced for genetic analysis on products of conception (POC).

Methods: HLPA and SNP-array analysis were combined. POC samples were initially tested using HLPA, followed by SNP-array analysis on samples that were found to be normal by HLPA.

Results: Of the 326 POC samples tested, the overall abnormality rate was 54.6% (178/326), including 44.8% (146/326) chromosomal abnormalities identified by HLPA and 9.8% (32/326) additional chromosomal abnormalities further detected by SNP-array.

Conclusions: The combination of HLPA and SNP-array analysis is an efficient and cost-effective strategy for genetic analysis of POC.

Keywords: HLPA; SNP-array; chromosomal abnormality; miscarriage; products of conception.

Conflict of interest statement

Competing interestsThe authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
The analysis strategy of spontaneous abortion specimens
Fig. 2
Fig. 2
Abnormal results of HPLA
Fig. 3
Fig. 3
Copy number variation measurements of five POC samples by HPLA. Chromosomal loci for probes were displayed in the x-axis, and y-axis showed the calculated copy number. CNVs were indicated by red arrows. (a) genetic mosaic 46,XX/46,XY or 69, XXY triploidy; (b) deletion of 8p; (c) duplication of 11q; (d) partial deletion of 8p and partial duplication of 8q; (e) partial duplication of 5p and partial deletion of 13q
Fig. 4
Fig. 4
Abnormal results of SNP-array

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