徐晨明

发布者：林佳丽发布时间：2023-02-22浏览次数：740

基本信息

姓名：

徐晨明

职称：

研究员

导师类型：

博导

专业：

妇产科学

研究方向：

生殖遗传

邮箱地址：

xuchenm@163.com

个人简介


从事生殖相关疾病发病机制研究，生殖遗传、产前诊断等出生缺陷防控相关领域的技术开发和临床转化应用研究，在辅助生殖和生殖遗传转化医学研究中具备丰富经验。兼任中国妇幼保健学会出生缺陷防治与分子遗传分会副主任委员、中国生物物理学会临床分子诊断分会常委、上海市医学会分子诊断专科分会副主任委员、上海市医师协会临床遗传专科分会副会长、上海市医师协会青春期健康与医学专业委员会副会长、中国医师协会医学遗传医师分会委员等多个学术兼职。近年来主持13项课题，包括国家重点研发计划项目1项，国家自然科学基金7项，省部级项目5项，作为课题骨干参加国家重点研发计划4项，973项目和863项目各1项；近年在Nature Medicine、Cell Discovery、Protein Cell、CLINICAL CHEMISTRY、THYROID等国内外学术刊物公开发表论文80余篇，作为成果的主要完成人获得国家科技进步二等奖2项，上海市科技进步一等奖1项，浙江省科技进步一等奖2项，全国妇幼健康科技进步一等奖1项。作为第二主编，编写了《临床检验一万个为什么--遗传检验分册》，作为副主编编写了国内唯一的PGT工具书《胚胎植入前遗传学诊断的临床实践》，参编《发育源性疾病》、《实用人类辅助生殖技术》、《今日遗传咨询》、《高危儿管理》、《代谢组学与精准医学》等专著6部。获国家发明专利5项.


主要科研项目

 1.国家重点研发计划，2023YFC2705600，多种类型遗传疾病的无创产前同步式筛查新技术与临床研究，2023.12-2026.11，2000万，项目首席

 2.国家自然科学基金面上项目，82571887，PCOS的遗传致病新机制：非AUG翻译产物FMRpolyG诱发FXPCOS的分子机制,2026.01-2029.12，49万，主持

3. RGS12在线粒体应激致细胞衰老及早产中的作用和机制,国家自然科学基金面上项目，82171677，课题负责人

4.FMR1基因前突变CGG重复序列介导的卵巢功能不全机制，国家自然科学基金面上项目，81971344，课题负责人

5.PKD1/NPHP4通路参与ADPKD男性患者精子鞭毛结构异常发生的分子机制，国家自然科学基金面上项目，81771638，课题负责人

6.重要罕见病的临床诊疗规范研究，国家重点研发计划，2016YFC0905103，课题骨干

7.基于NGS技术的遗传性多囊肾病植入前遗传学诊断研究，国家自然科学基金面上项目，81471506，课题负责人

8.胚胎体外培养致辅助生殖子代表观遗传修饰的影响及机制研究，国家自然科学基金面上项目，81170620，课题负责人

9.ART技术对子代生殖细胞印记基因的影响及其导致的遗传效应研究，国家自然科学基金面上项目，30772345，课题负责人

10.基于BDA技术的单基因病PGT检测试剂及体系研发项目，上海市科委，22S31901500，课题负责人

11.基于多学科联合诊疗建立儿童性发育异常的产前诊断与筛查体系，上海卫健委申康，21Y21901002，子课题负责人

12. 结构性出生缺陷遗传致病基因的识别和鉴定，国家重点研发计划，2021YFC2701002，课题骨干

13.基于DNA甲基化的无创产前筛查方法建立及临床评价，上海市科委，15411964000，课题负责人

14.新一代全基因组低覆盖度测序技术用于PGD的临床研究，上海市科委，14411965100，课题负责人


代表性论文（#第一作者，*通讯作者）1

  1. Songchang Chen#, Wenqiu Xu#, Li Zhang#, Xiaorui Luan,, Mengdi Liu, Hong You, Weihui Shi, Xuanyou Zhou,  Zhen Yang,Yun Yang, Chenming Xu*. Expanded Non-Invasive Prenatal Screening for Dominant Single-Gene Disorders: Proof-of-concept, Performance, and Challenges[J]. AmJ Obstet Gynecol. 2025 2025 Dec;233(6):673.e1-673.e21.

  2. Chen S#, Wang L#, Hu Y, Yao Y, Gao F, Chang C, Zhang L, Huang H, Lu D, Xu C*.Noninvasive preimplantation genetic testing for aneuploidy using blastocyst spent culture medium may serve as a backup of trophectoderm biopsy in conventional preimplantation genetic testing. BMC Med Genomics. 2025 Feb 21;18(1):34.

  3. Xu C#*, Chen S#, Zou Y, Chen Y, Wu Y, Xu C, Xia Y, Chen G, Jin L, Lu S, Huang H*. Preimplantation genetic testing for type 2 diabetes based on family-specific polygenic risk score: A proof-of-concept study. Diabetes Res Clin Pract. 2025 Jul;225:112226.

  4. Lu W, Li S, Chen S, Yang B, Qiu X, Cao X, Wang J, Huang HF, Xu C*, Zhang J*. Loss of function variants in TMPRSS7 linked to a neurodevelopmental disorder disrupt synaptic function. Hum Mol Genet. 2025 Oct 5;34(20):1705-1717.

  5. Chen S, Liu C, Luan X, Wang Y, Xu Y, Li Y, Zhang F, Shi W, Zhou X, Xu C*. Application and clinical utility assessment of natural language processing-based software for copy-number variants interpretation. J Transl Med. 2025 Oct 3;23(1):1052.

  6. Xuanyou Z, Naixin X, Xianling C, Weihui S, Shuyuan L, Songchang C, Chenming X. The association of CGG repeat length and AGG interruption patterns on FMR1 alleles with female infertility. Front Endocrinol (Lausanne). 2025 Jun 17;16:1609471.

  7. Jinglan Zhang#*, Yanting Wu#, Songchang Chen#, Qiong Luo#, Hui Xi，Hua Wang*, Dan Zhang*, Chenming Xu*, He-Feng Huang*. Prospective prenatal cell-free DNA screening for genetic conditions of heterogenous etiologies. Nature Medicine, 2024.30:470-479

  8. Chen Y, Yang B, Zhang XM, Chen S, Wang M, Hu L, Pan N, Li S, Shi W, Yang Z, Wang L, Tan Y, Wang J, Wang Y, Xing Q, Ma Z, Li J, Huang HF, Zhang J*, Xu C*. Biallelic variants in RBM42 cause a multisystem disorder with neurological, facial, cardiac, and musculoskeletal involvement. Protein Cell. 2024 Jan 3;15(1):52-68.

  9. Chen S, Wang L, Chen L, Shi W, Zhang J, Hu Y, Wang Y, Jin L, Sheng J, Zhang F, Wu Y, Huang H*, Xu C*. A novel preimplantation genetic testing strategy for a subtelomeric genetic disorder: A case study. Genes Dis. 2023 Jul 4;11(4):101014.

  10. Sun J, Wang WJ, Zhou X, Yang T, Ye M, Shi W, Liu Z, Zhang L, Zhou Q, Qin Y, Chen Y, Chen F, Huang H, Chen S*, Xu C*.Early characterisation and prediction of liver diseases in pregnancy by plasma cell-free RNAs. Clin Transl Med. 2023 Oct;13(10):e1439.

  11. Wang Y, Qiu X, Chen S, Pan D, Hua R, Li S, Chen Y, Pan N, Cai X, Li J, Zhao X, Wang J, Jing R, Xiang G, Zhang Z, Huang HF, Xu C, Zhang J*. Noninvasive Evaluation of Fetal Zygosity in Twin Pregnancies Involving a Binary Analysis of Single-Nucleotide Polymorphisms. J Mol Diagn. 2023 Sep;25(9):682-691.

  12. Chen SC, Zhou XY, Li SY, Zhao MM, Huang HF, Jia J*, Xu CM*.Carrier burden of over 300 diseases in Han Chinese identified by expanded carrier testing of 300 couples using assisted reproductive technology. J Assist Reprod Genet. 2023 Sep;40(9):2157-2173.

  13. Wang J, Zhou C, Chen S, Hu J, Wu M, Jiang X, Xu C*, Qian D*. Chromosome Detection in Metaphase Cell Images Using Morphological Priors. IEEE J Biomed Health Inform. 2023 Sep;27(9):4579-4590.

  14. Xu Chen-Ming, Lu Si-Jia; Chen Song-Chang; Zhang Jing-Lan, Xu Cong-Jian, Gao Yuan; Shen Yi-Ping, Cao Yun-Xia; Wu Ling-Qian; Jin Fan; Lin Ge; Liu Ping; Zhu Yi-Min; WuYan-Ting; Zhang Dan; Yee Bill; Kushnir Vitaly A.; Yang Zhi-Hong; Liu Jia-Yin; Chen Zi-Jiang; Thornhill Alan; Beltsos Angie N.; Smitz Johan; Frattarelli John; Handyside Alan*, Qiao Jie11*, Huang He-Feng*. Preimplantation genetic testing guidelines of International Society of Reproductive Genetics. Reproductive and Developmental Medicine. 2023 March; 7(1):p 3-11,

  15. Cao X, Chen S*, Xu C* Integration of transcriptomics and metabolomics reveals the responses of the maternal circulation and maternal-fetal interface to LPS-Induced Preterm Birth in Mice. Front Immunol. 2023 Aug 15:14:1213902.

  16. Shi WH, Zhou ZY, Ye MJ, Qin NX, Jiang ZR, Zhou XY, Xu NX, Cao XL, Chen SC, Huang HF, Xu CM*. Sperm morphological abnormalities in autosomal dominant polycystic kidney disease are associated with the Hippo signaling pathway via PC1.Front Endocrinol (Lausanne). 2023 Apr 19;14:1130536.

  17. Cao X, Chen S, Xu C*. Proinflammatory changes in the maternal circulation, maternal-fetal interface, and placental transcriptome in preterm birth: a comment. Am J Obstet Gynecol. 2023 Jun;228(6):763-764.

  18. Xu N, Shi W, Cao X, Zhou X, Huang H, Chen S, Xu C*. Preimplantation Genetic Testing (PGT) and Prenatal Diagnosis of Schaaf-Yang Syndrome: A Report of Three Families and a Research on Genotype-Phenotype Correlations. J Clin Med. 2023 Feb 20;12(4):1688. doi: 10.3390/jcm12041688

  19. Xu N, Shi W, Cao X, Zhou X, Jin L, Huang HF, Chen S*, Xu C*.Parental mosaicism detection and preimplantation genetic testing in families with multiple transmissions of de novo mutations.J Med Genet. 2023 Jan 27:jmg-2022-108920. doi: 10.1136/jmg-2022-108920.

  20. Xu C#*, Li J#, Chen S#, Cai X, Jing R, Qin X, Pan D, Zhao X, Ma D, Xu X, Liu X, Wang C, Yang B, Zhang L, Li S, Chen Y, Pan N, Tang P, Song J, Liu N, Zhang C, Zhang Z, Qiu X, Lu W, Ying C, Li X, Xu C, Wang Y, Wu Y*, Huang HF*, Zhang J*.Genetic deconvolution of fetal and maternal cell-free DNA in maternal plasma enables next-generation non-invasive prenatal screening.Cell Discov. 2022 Oct 13;8(1):109. doi: 10.1038/s41421-022-00457-4.

  21. Cao XL, Xu NX, Zhou XY, Xu CM*.Association of urinary bisphenol A concentrations with in vitro fertilisation outcomes: a systematic review and meta-analysis protocol.BMJ Open. 2022 Nov 1;12(11):e063930. doi: 10.1136/bmjopen-2022-063930.

  22. XuNaixin, Zhou Xuanyou, Shi Weihui, Ye Mujin, Cao Xianling, Chen Songchang*, Xu Chenming*. Integrative analysis of circulating microRNAs and the placental transcriptome in recurrent pregnancy loss. Frontiers in Physiology, 2022, 13(893744).

  23. Wu W, Zhou X, Jiang Z, Zhang D, Yu F, Zhang L, Wang X, Chen S, Xu C*.Noninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.Hum Genomics. 2022 Jul 27;16(1):28. doi: 10.1186/s40246-022-00400-4

  24. Cao XL, Zhou XY, Xu NX, Chen SC, Xu CM*.Association of IL-4 and IL-10 Polymorphisms With Preterm Birth Susceptibility: A Systematic Review and Meta-Analysis.Front Immunol. 2022 Jul 4;13:917383.

  25. Zhou X, Shi W, Ye M, Chen S, Xu N, Xu C*.High normal sized CGG repeat on the FMR1 gene reduces live birth rates after in vitro fertilization in Han Chinese.Gene. 2022 Apr 20;819:146204.

  26. Shi WH, Ye MJ, Qin NX, Zhou ZY, Zhou XY, Xu NX, Chen SC, Li SY, Xu CM*.Associations of Sperm mtDNA Copy Number, DNA Fragmentation Index, and Reactive Oxygen Species With Clinical Outcomes in ART Treatments.Front Endocrinol (Lausanne). 2022 Mar 23;13:849534.

  27. Chen S, Zhang Q, Chu L, Chang C, Chen Y, Bao Z, Peng W, Zhang L, Li S, Liu C, Zhu H, Yu F, Chen X, Jiang L, Lu D, Jiang Z, Jin L, Xu C*.Comprehensive copy number analysis of Y chromosome-linked loci for detection of structural variations and diagnosis of male infertility.J Hum Genet. 2022 Feb;67(2):107-114.

  28. Wang P, Hu W, Zhang J, Wen Y, Xu C*, Qian D*.Enhanced Rotated Mask R-CNN for Chromosome Segmentation.Annu Int Conf IEEE Eng Med Biol Soc. 2021 Nov;2021:2769-2772.

  29. Shi WH, Jiang ZR, Zhou ZY, Ye MJ, Qin NX, Huang HF, Chen SC, Xu CM*. Different Strategies of Preimplantation Genetic Testing for Aneuploidies in Women of Advanced Maternal Age: A Systematic Review and Meta-Analysis. J Clin Med. 2021 Aug 30;10(17):3895.

  30. Xu C, Cai X, Chen S, Luo Q, Xi H, Zhang D, Wang H, Wu Y, Huang HF, Zhang J*. Comprehensive non-invasive prenatal screening for pregnancies with elevated risks of genetic disorders: protocol for a prospective, multicentre study. BMJ Open. 2021 Aug 27;11(8):e053617.

  31. Chen S, Fei H, Zhang J, Chen Y, Huang H, Lu D, Xu C*. Classification and Interpretation for 11 FBN1 Variants Responsible for Marfan Syndrome and Pre-implantation Genetic Testing (PGT) for Two Families Successfully Blocked Transmission of the Pathogenic Mutations. Front Mol Biosci. 2021 Dec 10;8:749842.

  32. Zhou X, Liu X, Shi W, Ye M, Chen S*, Xu C*. Mitochondrial DNA Content May Not Be a Reliable Screening Biomarker for Live Birth After Single Euploid Blastocyst Transfer. Front Endocrinol (Lausanne). 2021 Nov 16;12:762976.

  33. Nina Pan, Songchang Chen, Xiaoqiang Cai, Jianli Li, Tao Yu, He-Feng Huang, Jinglan Zhang, Chenming Xu. Low-level germline mosaicism of a novel SMARCA2 missense variant: Expanding the phenotypic spectrum and mode of genetic transmission. Mol Genet Genomic Med. 2021 Jul 22;e1763. doi: 10.1002/mgg3.1763. Online ahead of print.

  34. Chen S, Zhang L, Gao J, Li S, Chang C, Chen Y, Fei H, Zhang J, Wang Y, Huang H, Xu C, Lu D.Expanding the Scope of Non-invasive Prenatal Testing to Detect Fetal Chromosomal Copy Number Variations.Front Mol Biosci. 2021 May 12;8:649169. doi: 10.3389/fmolb.2021.649169. eCollection 2021.

  35. Shi WH, Ye MJ, Chen SC, Zhang JY, Chen YY, Zhou ZY, Qin NX, Zhou XY, Xu NX, Jiang ZR, Lin J, Huang HF, Xu CM.Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome.Front Genet. 2021 Feb 9;12:633003. doi: 10.3389/fgene.2021.633003. eCollection 2021.

  36. Zhang J, Hu W, Li S, Wen Y, Bao Y, Huang H, Xu C, Qian D.Chromosome Classification and Straightening Based on an Interleaved and Multi-task Network.IEEE J Biomed Health Inform. 2021 Feb 25;PP. doi: 10.1109/JBHI.2021.3062234. Online ahead of print

  37. Ye M, Hu B, Shi W, Guo F, Xu C*, Li S*. Mitochondrial DNA 4977 bp Deletion in Peripheral Blood Is Associated With Polycystic Ovary Syndrome. Front Endocrinol (Lausanne). 2021 Jul 8;12:675581.

  38. Ye M, Shi W, Hao Y, Zhang L, Chen S, Wang L, He X, Li S, Xu C.Associations of mitochondrial DNA copy number and deletion rate with early pregnancy loss.Mitochondrion. 2020 Nov;55:48-53.

  39. Fei H, Chen S, Xu C.RNA-sequencing and microarray data mining revealing: the aberrantly expressed mRNAs were related with a poor outcome in the triple negative breast cancer patients.Ann Transl Med. 2020 Mar;8(6):363.

  40. Songchang Chen, Xuyang Yin, Sijia Zhang, Jun Xia, Ping Liu, Pingyuan Xie, Huijuan Yan, Xinming Liang, Junyu Zhang，Yiyao Chen, Hongjun Fei1, Lanlan Zhang, Yuting Hu, Hui Jiang, Ge Lin, Fang Chen*, Chenming Xu*, Comprehensive preimplantation genetic testing by massively parallel sequencing,Hum Reprod. 2021 Jan 1;36(1):236-247.

  41. Songchang Chen, Weihui Shi, Yeqing Qian, Liya Wang, Junyu Zhang, Shuyuan Li, Yiyao Chen, Chun-Xin Chang, Hongjun Fei, Lanlan Zhang, Hefeng Huang and Xu Chenming*, Preimplantation genetic testing for a Chinese family with X-linked lymphoproliferative syndrome type 1, Front Genet. 2020 Nov 4;11:550507.

  42. Chen Y, Liu X, Chen S, Zhang J, Xu C. Targeted Sequencing and RNA Assay Reveal a Noncanonical JAG1 Splicing Variant Causing Alagille Syndrome. Front Genet. 2020 Jan 24;10:1363.

  43. Li S, Han X, Ye M, Chen S, Shen Y, Niu J, Wang Y, Xu C. Prenatal Diagnosis of Microdeletions or Microduplications in the Proximal, Central, and Distal Regions of Chromosome 22q11.2: Ultrasound Findings and Pregnancy Outcome. Front Genet. 2019 Aug 30;10:813.

  44. Li S, Han X, Wang Y, Chen S, Niu J, Qian Z, Li P, Jin L, Xu C. Chromosomal microarray analysis in fetuses with congenital anomalies of the kidney and urinary tract: A prospective cohort study and meta-analysis. Prenat Diagn. 2019 Feb;39(3):165-174.

  45. Chen S#, Li S#, Zhang J, Zhang L, Chen Y, Wang L, Jin L, Hu Y, Qi X*, Huang H*, Xu CM*, Preimplantation Genetic Diagnosis of Multiple Endocrine Neoplasia Type 2A Using Informative Markers Identified by Targeted Sequencing, Thyroid, 2018 Mar,28(3):281-287.

  46. Xu C# ; Wang T# ; Liu C# ; Li H# ; Chen X; Zhu H; Chen S; Xin Q; Tao J; Huang L; Jiang Z*  , Noninvasive Prenatal Screening of Fetal Aneuploidy without Massively Parallel Sequencing, Clin Chem, 2017.4, 63(4): 861~869

  47. Jun-Yu Zhang# ; Song-Chang Chen# ; Yi-Yao Chen; Shu-Yuan Li; Lan-Lan Zhang; Ying-Hua Shen; Chun-Xin Chang; Yu-Qian Xiang; He-Feng Huang; Chen-Ming Xu* , Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family:Carrier screening and Prenatal genetic testing, PLoS One, 2017.2 .23, 12(2): e0172173

  48. Chen S, Liu D, Zhang J, Li S, Zhang L, Fan J, Luo Y, Qian Y, Huang H, Liu C, Zhu H, Jiang Z, Xu C. A copy number variation genotyping method for aneuploidy detection in spontaneous abortion specimens. Prenat Diagn. 2017 Feb;37(2):176-183.

  49. Chen SC, Xu XL, Zhang JY, Ding GL, Jin L, Liu B, Sun DM, Mei CL, Yang XN, Huang HF, Xu CM. Identification of PKD2 mutations in human preimplantation embryos in vitro using a combination of targeted next-generation sequencing and targeted haplotyping. Sci Rep. 2016 May 6;6:25488.

  50. Hou N ; Chen S; Chen F; Jiang M; Zhang J; Yang Y; Zhu B; Bai X; Hu Y;Huang H* ; Xu C*，Association between premature ovarian failure, polymorphisms in MTHFR and MTRR genes and serum homocysteine concentration, Reprod Biomed Online., 2016.4, 32(4): 407~13  

  51. Bei Liu#; Song-Chang Chen#; Yan-Mei Yang; Kai Yan; Ye-Qing Qian; Jun-Yu Zhang; Yu-Ting Hu; Min-Yue Dong; Fan Jin; He-Feng Huang; Chen-Ming Xu *，Identification of novel PKD1 and PKD2 mutations in a Chinese population with autosomal dominant polycystic kidney disease, Sci Rep, 2015.12.3, 5: 17468




代表性著作

  1. Ai-Xia Liu, Xin-Mei Liu, Yan-Ling Zhang, He-Feng Huang, Chen-Ming Xu, Gamete and Embryo-fetal Origins of Adult Diseases (chapter 2, Physiology of Embryonic Development), 专著，2014年，Springer, 参编

  2. 植入前遗传学诊断临床实践，专著，2018年，上海交通大学出版社，副主编

  3. 临床检验一万个为什么—遗传检验分册，专著，2018年，人民卫生出版社， 主编

  4. 实用人类辅助生殖技术，专著，2018年，人民卫生出版社，参编

  5. 今日遗传咨询，专著，2019年，人民卫生出版社，参编

  6. 高危儿管理，专著，2019年，人民卫生出版社，参编

  7. 代谢组学与精准医学，专著，2019年，上海交通大学出版社，参编

  8. 发育源性疾病，专著，2022年，人民卫生出版社，参编




获奖

  1. 发育源性疾病和遗传性出生缺陷的机制研究和临床精准防控，中华人民共和国国务院国家科学技术进步奖二等奖，第二完成人，2020年。

  2. 发育源性疾病和遗传性出生缺陷的机制研究和临床精准防控，上海市科学技术进步奖一等奖，第二完成人，2019年。

  3. 生殖过程调控及相关疾病分子机理，全国妇幼健康科技成果一等奖，第七完成人，2015年。

  4. 提高出生人口质量的生殖技术创建、体系优化与临床推广应用，中华人民共和国国务院国家科学技术进步奖二等奖，第九完成人，2010年。

  5. 阻断出生缺陷、促进子代健康关键技术体系的创建与推广应用，浙江省科学技术进步奖一等奖，第三完成人，2010年。




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