分子生物研究組

組長   陳持平 醫師

進駐團隊：
吳南霖 醫師
黃誼庭

研究人員

邱鈴雅 博士
王偉信、邱千綾、楊正大、林谷倩

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. 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。

2023-2024年連續入選全球頂尖2%科學家名單（Career Impact 1788-2023)。

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(1997-2022)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。

Syu YM, Ma JY, Ou TH, Lee CL, Lin HY, Lin SP, Lee CJ, Chen CP. De Novo Mosaic 6p23-p25.3 tetrasomy caused by a small supernumerary marker chromosome presenting trisomy distal 6p phenotype: A case report and literature review. Diagnostics 2022; 12:2306. (SCIE, MEDICINE, GENERAL & INTERNAL) (IF: 3.0, Ranking: 59/329 =17.9%)

Chen CP. Prenatal diagnosis of familial 266-kb 2q13 microquadruplication encompassing MALL and NPHP1 in a pregnancy associated with asymptomatic carrier parent. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:424-425. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

Chen CP. Prenatal diagnosis of familial 17q11.2 duplication encompassing NF1 in a pregnancy associated with asymptomatic carrier parent. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:426-427. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

Chen CP. Incidental detection of a de novo 16p13.3 microdeletion encompassing PKD1 and a familial Yq11.223 microdeletion encompassing DAZ1 in a fetus with encephalocele on prenatal ultrasound and amniotic band syndrome. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:428-430. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

Chen CP. Detection of digynic triploidy in a second-trimester fetus presenting syndactyly, relative macrocephaly, intrauterine growth restriction, cardiomegaly, pericardial effusion, Dandy-Walker malformation, double bubble sign and single umbilical artery on prenatal ultrasound and a false negative non-invasive prenatal testing result in the first trimester. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:431-434. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

Chen CP, Wu FT, Pan YT, Wu PS, Lee CC, Chen WL, Chiu CL, Wang WS. Mosaic distal 9p deletion or 46, XY, del(9)(p23)/46, XY at amniocentesis in a pregnancy associated with perinatal progressive decrease of the aneuploid cell line and a favorable fetal outcome. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:540-544. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

Chen CP, Wu FT, Pan YT, Wu PS, Lee MS, Wang WS. Low-level mosaic trisomy 7 at amniocentesis in a pregnancy associated with cytogenetic discrepancy between cultured amniocytes and uncultured amniocytes, perinatal progressive decrease of the trisomy 7 cell line and a favorable fetal outcome. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:549-551. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

Chen CP. Rapid detection of paternal origin of trisomy 18 by quantitative fluorescent polymerase chain reaction analysis in a fetus associated with increased nuchal translucency thickness and in a pregnancy without an advanced maternal age. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:565-567. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

Chen CP, Lin SY, Yuan TJ. Application of array comparative genomic hybridization on the DNA extracted from cultured amniocytes for rapid diagnosis of 22q11.2 microdeletion in a pregnancy with a normal karyotype at amniocentesis and double outlet right ventricle and transposition of great arteries on level II ultrasound. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:568-569. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

Chen CP. False negative non-invasive prenatal testing (NIPT) result for trisomy 7 and false positive NIPT result for trisomy 2 in a pregnancy associated with low-level mosaic trisomy 7 at amniocentesis and a favorable outcome. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:570-571. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

Chen CP. Balanced Robertsonian translocation mosaicism of mosaic 45, XY, der(13;21)(q10;q10)/46, XY at amniocentesis in a pregnancy with a favorable outcome and no perinatal decrease of the cell line with the balanced Robertsonian translocation. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:572-574. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

Chen CP. Mosaicism for 47, XXY or 47, XXY/46, XY at amniocentesis in a pregnancy with a favorable outcome and no prominent perinatal decrease of the 47, XXY cell line. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:578-580. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%) 

Chen CP. Detection of mosaic ring chromosome 12 or 46, XY, r(12)(p13.3q24.33)/46, XY in a 37-year-old male associated with oligospermia but no other apparently phenotypic abnormalities. Taiwanese Journal of Obstetrics and Gynecology 2024; 63:581-583. (SCIE, OBS/GYN) (IF: 2.0, Ranking: 63/136=46.3%)

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: 2.0, Ranking: 63/136=46.3%)