分子生物研究組

組長   陳持平 醫師

進駐研究醫師：吳南霖 醫師

研究人員

邱鈴雅 博士
王偉信、邱千綾、楊正大、林谷倩、黃誼庭

臺灣族群常見遺傳疾病之產前分子診斷。 遺傳疾病基因體學研究，包括各類染色體不平衡(imbalance)之基因劑量異常，相關基因的座標定位等。 非侵襲性產前診斷基因體異常及遺傳疾病。 基因體異常之胎盤、臍帶間質細胞之收集與研究。 .

1. 胎兒外泌體微核醣核苷核酸之表觀遺傳調控及產前診斷之應用 (NSTC)
2. 小分子核糖核酸miR-191-5p做為母胎健康之標記以及其在胎盤發育的角色 (NSTC)
3. 鑲嵌型染色體之產前診斷與處置 (NSTC)

陳持平醫師投入產前診斷及遺傳諮詢三十餘年，守護孕婦及胎兒健康，榮獲第29屆醫療奉獻獎。

完成300例以上異倍體(aneuploidy)之分子核型(genotyping)分析，釐清其染色體不分離發生的來源與階段，從而瞭解各類基因體異常中其結構、組織等發育異常的特徵。 建構完整的產前診斷平台，結合傳統與分子細胞遺傳學分析，成果發表(1997-2022)相關領域論文達七百餘篇。 全球首例自孕婦週邊血液快速產前診斷出胎兒帶有源自其父親的染色體缺失。 發現產前檢查中鑲嵌性染色體異常羊水細胞，經過培養後細胞群的改變，改寫羊水染色體檢查常規產前檢查的標準方案，挽救羊水細胞為鑲嵌型染色體之胎兒。

Chen CP, Wang LK, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Pan CW, Wang W. Prenatal diagnosis and molecular cytogenetic characterization of a chromosome 15q24 microdeletion. Taiwanese Journal of Obstetrics and Gynecology 2020; 59:432-436. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%)

Chen CP, Hsu TY, Ko TM, Chern SR, Wu PS, Chen SW, Wu FT, Chen YY, Lee CC, Pan CW, Wang W. Cytogenetic discrepancy between uncultured amniocytes and cultured amniocytes in mosaic trisomy 15 at amniocentesis. Taiwanese Journal of Obstetrics and Gynecology 2020; 59:728-735. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%)

Chen CP, Chern SR, Wu FT, Chen YY, Lee MS, Wang W. Low-level mosaic trisomy 13 at amniocentesis associated with a favorable outcome in a pregnancy. Taiwanese Journal of Obstetrics and Gynecology 2020; 59:935-937. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%) 

Chen CP, Steven W. Shaw, Chern SR, Chen SW, Wu FT, Wang W. Prenatal diagnosis and management of monozygotic twins discordant for severe fetal abnormalities. Taiwanese Journal of Obstetrics and Gynecology 2020; 59:945-947. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%)

Chen CP. Low-level mosaic tetrasomy 18p at amniocentesis can be associated with a favorable pediatric outcome: the follow-ups of three consecutive cases. Taiwanese Journal of Obstetrics and Gynecology 2020; 59:985-986. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%) 

Chen CP, Chern SR, Wu PS, Chen SW, Wu FT, Wang W. Molecular cytogenetic characterization of a de novo chromosome 1q41-q42.11 microdeletion of paternal origin in a 15-year-old boy with mental retardation, developmental delay, autism and congenital heart defects. Taiwanese Journal of Obstetrics and Gynecology 2021; 60:341-344. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%)

Chen CP. Disappearance of the trisomy 15 cell line at long-term follow-up in mosaic trisomy 15 at amniocentesis. Taiwanese Journal of Obstetrics and Gynecology 2020; 59:373. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%) 

Chen CP. Low-level mosaic trisomy 17 at amniocentesis can be associated with a favorable pediatric outcome: the follow-ups of three consecutive cases. Taiwanese Journal of Obstetrics and Gynecology 2021; 60:794-795. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%)

Chen CP, Chern SR, Lin CH, Hsu CY, Lin HYu, Wu FT, Chen SW, Wang W. Detection of hypermethylation at H19DMR at amniocentesis in a fetus with overgrowth, distended abdomen and Beckwith-Wiedemann syndrome. Taiwanese Journal of Obstetrics and Gynecology 2021; 60:1103-1106. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%)

Chen CP, Chen SW, Wu PS, Wu FT, Wang W. A false-positive result at non-invasive prenatal testing due to maternal 17p12 microduplication. Taiwanese Journal of Obstetrics and Gynecology 2022; 61:532-534. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%) 

Chen SW, Chen CP, Chern SR, Kuo YL, Chiu CL. The significance of karyotyping and azoospermia factor analysis in patients with nonobstructive azoospermia or oligozoospermia. Taiwanese Journal of Obstetrics and Gynecology 2022; 61(5):800-805. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%)

Lee CL, Chuang CK, Tu RY, Chiu HC, Lo YT, Chang YH, Chen YJ, Chou CL, Wu PS, Chen CP, Lin HY, Lin SP. Increased diagnostic yield of array comparative genomic hybridization for autism spectrum disorder in one institution in Taiwan. Medicina (Kaunas) 2022; 58:15. (SCIE, MEDICINE, GENERAL & INTERNAL) (IF: 2.948, Ranking: 180/356=50.6%)

Chien SC, Chen CP, Liou JD. Prenatal diagnosis and genetic counseling of uniparental disomy. Taiwanese Journal of Obstetrics and Gynecology 2022; 61:210-215. (SCIE, OBS/GYN) (IF: 1.944, Ranking: 341/660=84.7%)