Research progress in prenatal diagnosis of fetal nuchal transparent layer thickening
10.3760/cma.j.cn431274-20221120-01202
- VernacularTitle:胎儿颈项透明层增厚在产前诊断中的研究进展
- Author:
Mohan WANG
1
;
Qichang WU
Author Information
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
- Keywords:
Nuchal translucency measurement;
Prenatal diagnosis;
Chromosome disorders
- From:
Journal of Chinese Physician
2023;25(9):1430-1435
- CountryChina
- Language:Chinese
-
Abstract:
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.
