【个人简介】

万均辉，男，副主任技师，现就职于广州医科大学附属妇女儿童医疗中心产前诊断中心。2012年毕业于南方医科大学，获遗传学硕士学位，后一直在广州医科大学附属妇女儿童医疗中心工作至今，历任技师、主管技师、副主任技师。发表SCI论文10多篇，主持广州市卫健委课题1项，参与省市级课题多项，获广东省科技进步二等奖1项。广东省医学会生殖免疫与优生学分会第三届青委会委员。Email：wanjh0538@126.com

【研究方向】

遗传病的筛查、分子诊断及产前诊断

【科研项目】

1.广州市卫生健康科技项目,反相液相色谱技术用于地中海贫血和异常血红蛋白筛查的可行性研究，2020-05-01至2022-04-30，结题，3万，主持。

【代表性论文及著作】

1: Wan J, Li R, Li F, Yu Q, Wang D, Sun X, Zhang Y, Jing X, Tang X, Chen G, Jiang F, Li F, Fu F, Li Y, Zhang L, Yi C, Li J, Li D, Liao C. Contribution of maternal mosaicism to false-positive chromosome X loss associated with noninvasive prenatal testing. J Matern Fetal Neonatal Med. 2022 Dec;35(25):9647-9653. doi: 10.1080/14767058.2022.2050362.

2: Junhui W, Ru L, Qiuxia Y, Dan W, Xiuhong S, Yongling Z, Xiangyi J, Fatao L, Xuewei T, Guilan C, Fan J, Fucheng L, Fang F, Yan L, Lina Z, Cuixing Y, Jian L, Dongzhi L, Can L. Evaluation of the Z-score accuracy of noninvasive prenatal testing for fetal trisomies 13, 18 and 21 at a single center. Prenat Diagn. 2021 May;41(6):690-696. doi: 10.1002/pd.5908. Epub 2021 Feb 11. PMID: 33480032.

3: Wan JH, Li FT, Li R, Zhong HZ, Li DZ. Insufficient fetal fraction of cell-free DNA in non-invasive prenatal testing: Not always true. Eur J Obstet Gynecol Reprod Biol. 2021 Jun;261:245-247. doi: 10.1016/j.ejogrb.2021.04.026. Epub 2021 Apr 21. PMID: 33910769.

4: Wan JH, Zhen L, Han J, Pan M, Yang X, Li DZ. Use of noninvasive prenatal screening with cell-free DNA in late pregnancy with sonographic soft markers. Eur J Obstet Gynecol Reprod Biol. 2020 Sep;252:431-433. doi:10.1016/j.ejogrb.2020.07.036. Epub 2020 Jul 22. PMID: 32721841.

5: Wan JH, He P, Xu LL, Li DZ. Confined placental trisomy detection through non-invasive prenatal testing: benefit for pregnancy management. J Obstet Gynaecol. 2020 Oct;40(7):1020-1022. doi: 10.1080/01443615.2019.1665631. Epub 2019 Nov 26. PMID: 31769707.

6: Wan J, Li R, Zhang Y, Jing X, Yu Q, Li F, Li Y, Zhang L, Yi C, Li J, Li D, Liao C. Pregnancy outcome of autosomal aneuploidies other than common trisomies detected by noninvasive prenatal testing in routine clinical practice. Prenat Diagn. 2018 Oct;38(11):849-857. doi: 10.1002/pd.5340. Epub 2018 Sep 6. PMID: 30078205.

7: Wan JH, Han J, Yang YD, Li DZ. Detection of confined placental trisomy 16 using non-invasive prenatal testing in a pregnancy associated with intrauterine growth restriction and normal karyotype. Eur J Obstet Gynecol Reprod Biol. 2019 Feb;233:81-83. doi: 10.1016/j.ejogrb.2018.12.012. Epub 2018 Dec 16. PMID:30580228.

8: Wan JH, Tian PL, Yin H, Han Y, Wei XC, Pan T. A preliminary evaluation of attenuated total reflection Fourier transform infrared spectroscopy for the hematological analysis of thalassemias. Clin Biochem. 2013 Jan;46(1-2):128-32. doi: 10.1016/j.clinbiochem.2012.10.001. Epub 2012 Oct 9. PMID: 23063982.

9: Wan JH, Tian PL, Luo WH, Wu BY, Xiong F, Zhou WJ, Wei XC, Xu XM. Rapid determination of human globin chains using reversed-phase high-performance liquid chromatography. J Chromatogr B Analyt Technol Biomed Life Sci. 2012 Jul 15;901:53-8. doi: 10.1016/j.jchromb.2012.05.041. Epub 2012 Jun 9. PMID:22727753.

8: Jiang F, Zhou J, Zuo L, Tang X, Li J, Li F, Yang T, Qu Y, Wan J, Liao C, Li D. Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants. Front Genet. 2023 Jul 17;14:1208102. doi:10.3389/fgene.2023.1208102. PMID: 37529778; PMCID: PMC10387553.

9: Yu Q, Deng Q, Fu F, Li R, Zhang W, Wan J, Yang X, Wang D, Li F, Wu S, Li J, Li D, Liao C. A novel splicing mutation of <i>ARHGAP29</i> is associated with nonsyndromic cleft lip with or without cleft palate. J Matern Fetal Neonatal Med. 2022 Jul;35(13):2499-2506. doi: 10.1080/14767058.2020.1786523. Epub 2020 Jul 22. PMID: 32698641.

10: Tang XW, Jiang F, Li J, Lin XM, Zhou JY, Wan JH, Zuo LD, Qu YX, Li FT, Chen GL, Li DZ. Application of real-time PCR-based multicolor melting curve with automatic analysis system in pregestational and prenatal thalassemia diagnoses. Ann Hum Genet. 2023 Nov;87(6):316-325. doi: 10.1111/ahg.12531. Epub 2023 Sep 28.PMID: 37771257.

11: Jiang H, Liu S, Zhang YL, Wan JH, Li R, Li DZ. Association of an α-globin gene cluster duplication and heterozygous β-thalassemia in a patient with a severe thalassemia syndrome. Hemoglobin. 2015;39(2):102-6. doi: 10.3109/03630269.2015.1012678. Epub 2015 Feb 18. PMID: 25690803.

12: Lei TY, Li R, Fu F, Wan JH, Zhang YL, Jing XY, Liao C. Prenatal diagnosis of Smith-Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects. Taiwan J Obstet Gynecol. 2016 Dec;55(6):886-890. doi: 10.1016/j.tjog.2015.07.007. PMID: 28040141.

13: Xiang J, Li R, He J, Wang X, Yao L, Song N, Fu F, Zhou S, Wang J, Gao X, Peng J, Wan J, Hu L, Liu A, Guo Y, Peng C, Liu X, Lin J, Li S, Sun J, Li D, Peng Z, Liao C. Clinical impacts of genome-wide noninvasive prenatal testing for rare autosomal trisomy. Am J Obstet Gynecol MFM. 2023 Jan;5(1):100790. doi:10.1016/j.ajogmf.2022.100790. Epub 2022 Oct 29. PMID: 36377092.

14: Jiang F, Mao AP, Liu YY, Liu FZ, Li YL, Li J, Zhou JY, Tang XW, Ju AP, Li FT, Wan JH, Zuo LD, Li DZ. Detection of rare thalassemia mutations using long-read single-molecule real-time sequencing. Gene. 2022 May 30;825:146438. doi:10.1016/j.gene.2022.146438. Epub 2022 Mar 17. PMID: 35306112.

15: Chen C, Li R, Sun J, Zhu Y, Jiang L, Li J, Fu F, Wan J, Guo F, An X, Wang Y, Fan L, Sun Y, Guo X, Zhao S, Wang W, Zeng F, Yang Y, Ni P, Ding Y, Xiang B, Peng Z, Liao C. Noninvasive prenatal testing of α-thalassemia and β-thalassemia through population-based parental haplotyping. Genome Med. 2021 Feb 5;13(1):18.doi: 10.1186/s13073-021-00836-8. PMID: 33546747; PMCID: PMC7866698.

16: Zhang YL, Jing XY, Wan JH, Pan M, Li DZ. Prenatal Silver-Russell Syndrome in a Chinese Family Identified by Non-Invasive Prenatal Testing. Mol Syndromol. 2022 Jul;13(4):323-327. doi: 10.1159/000520389. Epub 2022 Feb 4. PMID: 36158051; PMCID: PMC9421674.

【所获荣誉和奖励】

2014年荣获广东省科技进步二等奖