Reproductive biomedicine online · 2025
Algorithms to minimize the effect of maternal contamination in non-invasive chromosome screening.
СтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Chang Xiufeng, Yao Yaxin, Zou Yangyun, Lv Yandan, Qiao Yu, Wang Xin, Zhao Shengnan, Li Jiao, Zhao Dunmei, Lu Sijia, Yang Weimin, Cai Liyi
Аннотация
RESEARCH QUESTION: Can algorithms be developed to assess maternal contamination in the embryo spent culture medium without parental samples and correct copy number variations (CNV)?
DESIGN: An algorithm was developed to confirm the proportion of maternal contamination based on the mosaic ratios of X and Y chromosomes and an algorithm to correct copy number variation (CNV) in embryos with maternal contamination. Performance of algorithms was tested in 317 culture medium samples. A prospective clinical study was then conducted to validate the accuracy.
RESULTS: Among 55 male embryos with maternal contamination, the consistency of the corrected CNV results with the whole embryo results was higher than that of the CNV results before correction (69.1% versus 10.9%, P < 0.001). Among the 317 embryo culture medium samples, maternal contamination was identified in 88 (27.8%) samples through the algorithm based on the mosaic ratios of X and Y chromosomes and quantitative parental contamination test. Upon re-assessment using the CNV correction algorithm, two and five of the 19 samples deemed as euploid initially were re-classified as mosaic and aneuploid, respectively; 23 and three of the 36 samples deemed as mosaic initially were re-classified as aneuploid and euploid, respectively. In the clinical study, the live birth rate was 44.7%. Accuracy of the algorithms was assessed in 25 donated embryos and 47 cases with prenatal testing. The overall concordance rate was 95.8% (69/72).
CONCLUSIONS: The CNV correction algorithm could be used to minimize the effect of maternal contamination in culture medium and enhance the accuracy of non-invasive chromosome screening.
DESIGN: An algorithm was developed to confirm the proportion of maternal contamination based on the mosaic ratios of X and Y chromosomes and an algorithm to correct copy number variation (CNV) in embryos with maternal contamination. Performance of algorithms was tested in 317 culture medium samples. A prospective clinical study was then conducted to validate the accuracy.
RESULTS: Among 55 male embryos with maternal contamination, the consistency of the corrected CNV results with the whole embryo results was higher than that of the CNV results before correction (69.1% versus 10.9%, P < 0.001). Among the 317 embryo culture medium samples, maternal contamination was identified in 88 (27.8%) samples through the algorithm based on the mosaic ratios of X and Y chromosomes and quantitative parental contamination test. Upon re-assessment using the CNV correction algorithm, two and five of the 19 samples deemed as euploid initially were re-classified as mosaic and aneuploid, respectively; 23 and three of the 36 samples deemed as mosaic initially were re-classified as aneuploid and euploid, respectively. In the clinical study, the live birth rate was 44.7%. Accuracy of the algorithms was assessed in 25 donated embryos and 47 cases with prenatal testing. The overall concordance rate was 95.8% (69/72).
CONCLUSIONS: The CNV correction algorithm could be used to minimize the effect of maternal contamination in culture medium and enhance the accuracy of non-invasive chromosome screening.