Genetic analysis of products of conception using a HLPA/SNP-array strategy

Jun Mao; Huiling Wang; Haibo Li; Xiaoyan Song; Ting Wang; Jingjing Xiang; Hong Li

doi:10.1186/s13039-019-0452-2

Genetic analysis of products of conception using a HLPA/SNP-array strategy

Mol Cytogenet. 2019 Sep 2:12:40. doi: 10.1186/s13039-019-0452-2. eCollection 2019.

Authors

Jun Mao^#^{1

2}, Huiling Wang^#³, Haibo Li^#⁴, Xiaoyan Song^{1

2}, Ting Wang^{1

2}, Jingjing Xiang^{1

2}, Hong Li^{1

2}

Affiliations

¹ 1Center for Reproduction and Genetics, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu China.
² 2Center for Reproduction and Genetics, Suzhou Municipal Hospital, Suzhou, Jiangsu China.
³ 3Department of Gynaecology, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, Jiangsu China.
⁴ Ningbo Municipal Key Laboratory of Comprehensive Prevention and Treatment of Birth Defects, Ningbo Women & Children's Hospital, Ningbo, Zhejiang, China.

^# Contributed equally.

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.