产前诊断胎儿单基因病及微缺失/微重复综合征的挑战  

Challenge in prenatal diagnosis of monogenic and microdeletion/microduplication disorders

作　　者：马京梅[1] 杨慧霞[1] Ma Jingmei;Yang Huixia(Department of Obstetrics and Gynecology,Peking University First Hospital Beijing Key Laboratory of Maternal Fetal Medicine of Gestational Diabetes Mellitus,Bejing 100034,China)

机构地区：[1]北京大学第一医院妇产科妊娠合并糖尿病母胎医学北京市重点实验室,100034

出　　处：《中华围产医学杂志》2021年第6期406-409,共4页Chinese Journal of Perinatal Medicine

基　　金：国家重点研发计划(2016YFC1000303)。

摘　　要：随着生物医学科学技术的进步,胎儿疾病谱不断扩展,临床诊疗过程中以下问题尤为突出:多学科协作模式的必要性、产前选取遗传学检测方法的复杂性、新技术转化应用中的不确定性、检测前后遗传咨询的全面性和客观性等。本文就上述问题进行论述,希望相关学科共同合理应对挑战,不断提高诊疗效率,迎接胎儿医学的飞跃发展。Along with the development of screening,diagnostic and therapeutic technologies,the spectrum of fetal abnormalities has been constantly expanded.This brings increasing challenges to the clinical diagnosis and treatment,including but not limited to optimizing multidisciplinary cooperation,options of prenatal genetic testing methods,the uncertainty in the transition period of new technology implementation,and the comprehensiveness of genetic counseling before and after testing.We discuss the above issues aiming to meet the dilemma and achieve the leap of fetal medicine to the advanced level through multidisciplinary collaboration resulting in the improvement of diagnosis and treatment efficiency.

关 键 词：遗传性疾病 先天性 染色体缺失 染色体重复 产前诊断 

分 类 号：R714.5[医药卫生—妇产科学]