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

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...

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Detalles Bibliográficos
Autores principales: Mao, Jun, Wang, Huiling, Li, Haibo, Song, Xiaoyan, Wang, Ting, Xiang, Jingjing, Li, Hong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2019
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6822274/
https://www.ncbi.nlm.nih.gov/pubmed/31687045
http://dx.doi.org/10.1186/s13039-019-0452-2
Descripción
Sumario: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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