胎儿颈项透明层增厚在产前诊断中的研究进展  

Research progress in prenatal diagnosis of fetal nuchal transparent layer thickening

作　　者：王墨涵 吴琦嫦 Wang Mohan;Wu Qichang(Center of Prenatal Diagnosis,Women and Children′s Hospital Affiliated to Xiamen University(Xiamen Maternal and Child Health Care Hospital),Xiamen 361001,China)

机构地区：[1]厦门大学附属妇女儿童医院(厦门市妇幼保健院)产前诊断中心,厦门361001

出　　处：《中国医师杂志》2023年第9期1430-1435,共6页Journal of Chinese Physician

基　　金：厦门市医疗卫生指导性项目(3502Z20214ZD1226)。

摘　　要：大量的临床实践与案例研究发现胎儿的颈项透明层(NT)增厚不仅与染色体病相关,还和胎儿的染色体微缺失/微重复综合征、胎儿结构异常、某些遗传综合征、胎死宫内等不良妊娠结局密切相关。随着新的基因检测技术的引入,对超声发现NT增厚的胎儿,在产前单基因层面发现胎儿NT增厚的遗传学发病原因,准确评估胎儿病情和预后,为夫妻的再次生育提供理论依据。为了进一步明确胎儿NT增厚在产前诊断中的临床意义以及相应的诊断路径,本文就国内外文献对胎儿NT增厚在产前诊断中的进展进行综述。Numerous clinical practices and case studies have found that thickening of the nuchal transparent layer(NT)in fetuses is not only related to chromosomal diseases,but also closely related to adverse pregnancy outcomes such as chromosomal microdeletion/microduplication syndrome,fetal structural abnormalities,certain genetic syndromes,and intrauterine fetal death.With the introduction of new genetic testing techniques,for fetuses with NT thickening detected by ultrasound,the genetic causes of NT thickening in fetuses can be identified at the prenatal single gene level,accurately assessing fetal condition and prognosis,and providing a theoretical basis for couples to have another child.In order to further clarify the clinical significance and corresponding diagnostic pathways of fetal NT thickening in prenatal diagnosis,this article reviews the progress of fetal NT thickening in prenatal diagnosis in domestic and foreign literature.

关 键 词：颈部透明带检查 产前诊断 染色体障碍 

分 类 号：R714.5[医药卫生—妇产科学]