分子生物研究組

組長   陳持平 醫師

研究人員

邱鈴雅 博士、吳佩珊 博士
王偉信、邱千綾、楊正大 、林谷倩、徐志遠

進駐團隊：

吳南霖 醫師
吳淑婷、林思維

1. 臺灣族群常見遺傳疾病之產前分子診斷。
2. 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。
3. 非侵襲性產前診斷基因體異常及遺傳疾病。
4. 基因體異常之胎盤、臍帶間質細胞之收集與研究。

1. 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)
2. 鑲嵌型染色體之產前診斷與處置 (NSTC)
3. 探討產前診斷中染色體鑲嵌變化之臨床分子檢測與潛在機制(NSTC)
   

1. 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。
2. 2023-2025年連續入選全球頂尖2%科學家名單。
   

1. 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。
2. 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(1997-2025)相關領域論文達七百餘篇。
3. 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。
4. 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. Prenatal diagnosis of SRY(+) 46, XX male and the confirmation of a de novo unbalanced Xp;Yp translocation with the karyotype of 46,X,der(X)t(X;Y)(p22.33;p11.2) in a fetus with a favorable fetal outcome. Taiwan J Obstet Gynecol. 2025 May;64(3):551-554. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Mosaic trisomy 18 at amniocentesis in a pregnancy associated with omphalocele, intrauterine growth restriction, trisomy 18 placenta, an elevated sFlt-1/PlGF ratio and an adverse perinatal outcome in the fetus. Taiwan J Obstet Gynecol. 2025 May;64(3):555-559. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. High-level mosaic trisomy 18 at amniocentesis in a pregnancy associated with congenital heart defect, intrauterine growth restriction, trisomy 18 placenta, oligohydramnios and an adverse perinatal outcome in the fetus. Taiwan J Obstet Gynecol. 2025 May;64(3):560-563. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Low-level mosaic trisomy 7 at amniocentesis in a pregnancy associated with postnatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome despite postnatal manifestation of patterned hypopigmentation of skin. Taiwan J Obstet Gynecol. 2025 May;64(3):564-566. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Detection of a whole-arm balanced X; autosome translocation of 46,X,t(X;4)(p10;p10) in a 39-year-old, gravida 4, para 1, woman with recurrent miscarriages. Taiwan J Obstet Gynecol. 2025 May;64(3):567-568. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Incidental detection of a balanced X; autosome translocation of 46,X,t(X;8)(q28;q24.22) in a 32-year-old, unmarried woman with irregular menstrual cycle. Taiwan J Obstet Gynecol. 2025 May;64(3):569-570. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Prenatal diagnosis of a 4p16.3 microdeletion and a 11p15.5p15.4 microduplication in a fetus with increased nuchal translucency. Dandy-Walker malformation and intrauterine growth restriction. Taiwan J Obstet Gynecol. 2025 May;64(3):571-575. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Detection of a disomy X cell line in uncultured amniocytes by fluorescence in situ hybridization in a pregnancy with 45,X/47,XXX at amniocentesis, cytogenetic discrepancy cultured amniocytes and uncultured amniocytes and a favorable fetal outcome. Taiwan J Obstet Gynecol. 2025 May;64(3):576-579. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Detection of mosaic 1q21.1 microdeletion in a fetus associated with megacystis and arthrogryposis of bilateral hands. Taiwan J Obstet Gynecol. 2025 Jul;64(4):716-717. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. 47,XYY/45,X at amniocentesis in a pregnancy associated with a favorable fetal outcome and perinatal progressive decrease of the 45,X cell line. Taiwan J Obstet Gynecol. 2025 Jul;64(4):718-720. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Low-level mosaic trisomy 12 at amniocentesis in a pregnancy associated with complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome. Taiwan J Obstet Gynecol. 2025 Jul;64(4):721-722. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 21 cell line and a favorable fetal outcome in a pregnancy with low-level mosaic trisomy 21 at amniocentesis. Taiwan J Obstet Gynecol. 2025 Jul;64(4):723-725. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Incidental detection of a familial 361-kb 9q34.3 microduplication encompassing EHMT1 and CACNA1B without apparently phenotypic abnormality. Taiwan J Obstet Gynecol. 2025 Jul;64(4):726-728. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Prenatal diagnosis of a familial Xq27.1-q28 deletion with an asymptomatic mother carrier and no abnormality in the female fetus. Taiwan J Obstet Gynecol. 2025 Jul;64(4):729-732. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Low-level mosaicism for 45,X in 45,X/46,XY at amniocentesis associated with complete cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the 45,X cell line and a favorable fetal outcome. Taiwan J Obstet Gynecol. 2025 Jul;64(4):733-734. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)

Chen CP. Low-level mosaic trisomy 21 at amniocentesis in a pregnancy associated with an abnormal first-trimester maternal serum screening result, a favorable fetal outcome and postnatal decrease of the aneuploid cell line. Taiwan J Obstet Gynecol. 2025 Jul;64(4):735-737. (OBS/GYN) (IF：2.2, Ranking：30/86=35%)