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.
© The Author(s). 2019.
Conflict of interest statement
Competing interestsThe authors declare that they have no competing interests.
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