Enhancing chromosomal analysis efficiency through deep learning-based artificial intelligence graphic analysis

被引:0
作者
Zhou, Ying [1 ,2 ]
Xu, Lingling [1 ,2 ]
Zhang, Lichao [1 ,2 ]
Shi, Danhua [1 ,2 ]
Wu, Chaoyu [3 ]
Wei, Ran [3 ]
Song, Ning [3 ]
Wu, Shanshan [4 ]
Chen, Changshui [2 ]
Li, Haibo [1 ,2 ]
机构
[1] Ningbo Univ, Cent Lab Birth Defects Prevent & Control, Ningbo Key Lab Prevent & Treatment Embryogen Dis, Women & Childrens Hosp, Ningbo, Peoples R China
[2] Ningbo Univ, Ningbo Key Lab Prevent & Treatment Embryogen Dis, Women & Childrens Hosp, Ningbo, Peoples R China
[3] Diagens Biotechnol Ltd Co, Hangzhou, Peoples R China
[4] Ningbo Univ, Paediat Surg Ctr, Women & Childrens Hosp, Ningbo, Peoples R China
关键词
Deep learning; Artificial intelligence; Chromosomal karyotype; Chromosomal structural defects;
D O I
10.1007/s42452-024-05980-5
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
The objective of this study is to evaluate the efficacy and diagnostic utility of an advanced chromosomal analysis approach. A total of 2663 amniotic fluid samples were chosen for chromosomal karyotype profiling between January 2022 and June 2023. Two sets of tests were carried out: experiment 1 involved randomly selecting 1168 examples to test the accuracy of machine learning-based chromosomal karyotypes. The aim was to determine the method's general applicability when cases were naturally dispersed. Experiment 2 concentrated on randomly selecting the most common examples of chromosomal number anomalies and cases with structural defects that did not affect the visual assessment of chromosome categories. The goal was to investigate the diagnostic efficacy of the artificial intelligence (AI) analysis system in detecting these flaws. The results of experiment 1 demonstrated the resilience of the intelligent analysis system in cases with significant differences in chromosomal karyotypes, resulting from manual shooting and film-making. Experiment 2 results showed that the intelligent analysis system surpassed the standard chromosomal image analysis program in terms of automated analysis accuracy, for both normal and defect cases. Furthermore, the intelligent analysis system demonstrated detection and analysis speeds that were 3-15 times faster. The average speed of regular case analysis increased by a factor of 4-6, cases with quantitative defects increased by a factor of 3-5, and cases with structural defects increased by a factor of 5-7. Implementing a chromosome intelligence analysis system in clinical practice could improve the efficiency of chromosome identification and analysis, allow for more widespread chromosomal examination, and reduce the likelihood of congenital defects. The artificial intelligence (AI) analysis system demonstrates higher stability in analyzing normal chromosome karyotypes. The AI analysis system exhibits higher accuracy in automatic analysis of chromosome karyotypes. The AI analysis system significantly improves the speed of chromosome karyotype analysis, reduces manual workload, and enhances work efficiency.
引用
收藏
页数:12
相关论文
共 25 条
  • [1] A review of metaphase chromosome image selection techniques for automatic karyotype generation
    Arora, Tanvi
    Dhir, Renu
    [J]. MEDICAL & BIOLOGICAL ENGINEERING & COMPUTING, 2016, 54 (08) : 1147 - 1157
  • [2] Badawi AM, 2003, Proceedings of the 46th IEEE International Midwest Symposium on Circuits & Systems, Vols 1-3, P383
  • [3] Artificial intelligence to empower diagnosis of myelodysplastic syndromes by multiparametric flow cytometry
    Clichet, Valentin
    Lebon, Delphine
    Chapuis, Nicolas
    Zhu, Jaja
    Bardet, Valerie
    Marolleau, Jean-Pierre
    Garcon, Loic
    Caulier, Alexis
    Boyer, Thomas
    [J]. HAEMATOLOGICA, 2023, 108 (09) : 2435 - 2443
  • [4] Chromosome identification using hidden Markov models: Comparison with neural networks, singular value decomposition, principal components analysis, and Fisher discriminant analysis
    Conroy, JM
    Kolda, TG
    O'Leary, DP
    O'Leary, TJ
    [J]. LABORATORY INVESTIGATION, 2000, 80 (11) : 1629 - 1641
  • [5] Application of karyotype analysis combined with BACs-on-Beads for prenatal diagnosis
    Fang, Yuan
    Wang, Guangming
    Gu, Lize
    Wang, Jingjing
    Suo, Feng
    Gu, Maosheng
    Gou, Lingshan
    [J]. EXPERIMENTAL AND THERAPEUTIC MEDICINE, 2018, 16 (04) : 2895 - 2900
  • [6] A CYTOGENETIC STUDY OF 1000 SPONTANEOUS-ABORTIONS
    HASSOLD, T
    CHEN, N
    FUNKHOUSER, J
    JOOSS, T
    MANUEL, B
    MATSUURA, J
    MATSUYAMA, A
    WILSON, C
    YAMANE, JA
    JACOBS, PA
    [J]. ANNALS OF HUMAN GENETICS, 1980, 44 (OCT) : 151 - 178
  • [7] Highly accurate protein structure prediction with AlphaFold
    Jumper, John
    Evans, Richard
    Pritzel, Alexander
    Green, Tim
    Figurnov, Michael
    Ronneberger, Olaf
    Tunyasuvunakool, Kathryn
    Bates, Russ
    Zidek, Augustin
    Potapenko, Anna
    Bridgland, Alex
    Meyer, Clemens
    Kohl, Simon A. A.
    Ballard, Andrew J.
    Cowie, Andrew
    Romera-Paredes, Bernardino
    Nikolov, Stanislav
    Jain, Rishub
    Adler, Jonas
    Back, Trevor
    Petersen, Stig
    Reiman, David
    Clancy, Ellen
    Zielinski, Michal
    Steinegger, Martin
    Pacholska, Michalina
    Berghammer, Tamas
    Bodenstein, Sebastian
    Silver, David
    Vinyals, Oriol
    Senior, Andrew W.
    Kavukcuoglu, Koray
    Kohli, Pushmeet
    Hassabis, Demis
    [J]. NATURE, 2021, 596 (7873) : 583 - +
  • [8] Jung H., 2020, bioRxiv Bioeng, V5, P1
  • [9] Machine Learning Methods for Histopathological Image Analysis
    Komura, Daisuke
    Ishikawa, Shumpei
    [J]. COMPUTATIONAL AND STRUCTURAL BIOTECHNOLOGY JOURNAL, 2018, 16 : 34 - 42
  • [10] Karyotyping of comparative genomic hybridization human metaphases by using support vector machines
    Kou, ZZ
    Ji, L
    Zhang, XG
    [J]. CYTOMETRY, 2002, 47 (01): : 17 - 23