Objective: To establish the national reference materials for the fetal chromosomal aneuploidies(trisomy 21,trisomy 18,and trisomy 13),and evaluate the performance of detection kits baseed on single nucleotide polymorphism(SNP)method. Methods: Tissue samples of abortion were collected and DNA was extracted. Samples with different fetal DNA concentrations of 10%,5% and 3.5% were prepared and then repackaged. 3 companies participated in collaborative calibration to evaluate the national reference material. Results: 104 samples of the national reference materials were tested,among which the positive reference samples with 10% concentration were all corresponding trisomy. For samples with normal or other chromosomal abnormalities,the results were not trisomy 21,18 or 13. The detection rate of detection limit reference samples with 5% and 3.5% concentration was not less than 87.5%(21/24)and 58.0%(14/24),respectively. Among the reference samples with microdeletion and microduplication,the samples with microduplication of chromosome 18 were trisomy 18 by 2 companies,while the results of the other samples were not trisomy 21,18 or 13. Conclusion: The developed national reference materials cover chromosome aneuploidy,microdeletion and microduplication and normal samples,and can be used for the performance evaluation of the relevant kits and the supervision and management after it comes into the market.
ZHANG Wen-xin, HUANG Chuan-feng, JIA Zheng, SUN Nan, HUANG Jie, QU Shou-fang
. Establishment of the national reference materials for the fetal chromosomal aneuploidies(trisomy 21,trisomy 18 and trisomy 13)*[J]. Chinese Journal of Pharmaceutical Analysis, 2021
, 41(9)
: 1550
-1564
.
DOI: 10.16155/j.0254-1793.2021.09.08
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