Journal
MOLECULAR CYTOGENETICS
Volume 12, Issue 1, Pages -Publisher
BMC
DOI: 10.1186/s13039-019-0452-2
Keywords
HLPA; SNP-array; products of conception; chromosomal abnormality; miscarriage
Categories
Funding
- Jiangsu Province Association of Maternal and Child Health Project [FYX201603]
- Jiangsu Provincial commission of health and family planning [H2017073]
- Jiangsu Maternal and Children health care key discipline [FXK201748]
- Jiangsu Maternal and Children health care research project [F201603]
- Jiangsu Provincial Medical Innovation Team [CXTDB2017013]
- Suzhou Key Medical Center [SZZX201505]
- Suzhou Introduced Project of Clinical Medical Expert Team [SZYJTD201708]
- Suzhou Industry Technology Innovation Project [SYS201770, SS201873]
- Ningbo Health Branding Subject Fund [PPXK2018-06]
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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.
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