个人简述:

廖灿教授从事产前诊断、教学及科研工作近30年，擅长胎儿疾病的遗传咨询、各类产前诊断穿刺技术，一直致力于产前诊断与胎儿医学等疑难杂症诊治以及新技术研发与推广，是实施基于医院模式的地中海贫血和先天性结构发育畸形等出生缺陷疾病前瞻性人群预防的先进人物。最早在国内开展超声引导下脐经脉穿刺术；首次在国内建立标准化、规范化和系统化的唐氏综合征产前筛查体系；国内首创实施以医院为中心的预防重型α和β地贫患儿出生的孕前筛查及产前诊断的实践模式，成功达到了在医院水平有效杜绝重型地贫儿出生的目的并有效开展异常血红蛋白分子机制研究；所领导团队率先在国内建立染色体微阵列技术等分子细胞遗传学研究技术平台以及开展应用下一代高通量测序技术进行产前筛查和产前诊断胎儿疾病，研究水平在产前诊断领域属国内领先水平。

科研工作:

1. Fu F, Li R, Li Y, et al. Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.. Ultrasound Obstet Gynecol. 2018 Apr51(4):493-502. 2. Lei TY, Fu F, Li R, et al. Whole-exome sequencing for prenatal diagnosis of fetuses with congenital anomalies of the kidney and urinary tract. Nephrol Dial Transplant. 2017 Oct 132(10):1665-1675.3. Fu F, Deng Q, Lei TY, et al. Clinical application of SNP array analysis in fetuses with ventricular septal defects and normal karyotypes[J]. Arch Gynecol Obstet. 2017 Sep 13.4. Yang X, Li R, Fu F, Zhang Y, Li D, Liao C. Submicroscopic chromosomal abnormalities in fetuses with increased nuchal translucency and normal karyotype. J Matern Fetal Neonatal Med. 2017,30(2):194-198.5. Zequn L, Han J, Fang F, et al. Outcome of isolated enlarged cisterna magna identified in utero: experience at a single medical center in mainland China.[J]. Prenatal Diagnosis, 2017, 37.6. Li R, Wan J, Zhang Y, Fu F, Ou Y, Jing X, Li J, Li D, Liao C. Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies. Ultrasound Obstet Gynecol. 201647(1):53-7.7. Fu F, Chen F, Li R, Zhang Y, Pan M, Li D, Liao C. Prenatal diagnosis of fetal multicystic dysplastic kidney via high-resolution whole-genome array. Nephrol Dial Transplant. 2016 Feb 298. Liao C, Zhengfeng X, Zhang K..DNA sequencing versus standard prenatal aneuploidy screening[J]. N Engl J Med. 2014 Aug 7371(6):577-8.9. Liao C, Yin A H, Peng C F, et al. Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing. Proc Natl Acad Sci U S A,2014,111(20):7415-7420.10. Liao C, Fu F, Li R, et al. Implementation of high-resolution SNP arrays in the investigation of fetuses with ultrasound malformations: 5 years of clinical experience. Clin Genet,2014,86(3):264-269.