Progress of research on clinical use of non-invasive prenatal screening for special groups of pregnant women.
10.3760/cma.j.cn511374-20201103-00772
- VernacularTitle:无创产前检测在特殊人群中应用的研究进展
- Author:
Yousheng YAN
1
;
Yipeng WANG
;
Yan LIU
;
Chenghong YIN
Author Information
1. Prenatal Diagnostic Center, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing 100026, China. yinchh@ccmu.edu.cn.
- Publication Type:Journal Article
- MeSH:
China;
Chromosome Aberrations;
Female;
Humans;
Pregnancy;
Pregnant Women;
Prenatal Diagnosis;
Trisomy 13 Syndrome
- From:
Chinese Journal of Medical Genetics
2021;38(7):694-698
- CountryChina
- Language:Chinese
-
Abstract:
As a prenatal testing for chromosomal abnormalities, non-invasive prenatal testing (NIPT) has been integrated into prenatal healthcare service. NIPT has shown a high sensitivity and specificity for screening fetal trisomies 13, 18 and 21, and has attained excellent clinical results. With the propagation of the NIPT screening, international organizations have issued guidelines and comments for its clinical utility with regular updating. China has also developed guidelines for NIPT in 2016. NIPT guidelines in various countries have provided valuable guidance for its target diseases and suitable patient groups, but there has been few research data on its clinical application for special groups of patients. Based on the guidelines and comments of various professional bodies and published data on the clinical utility of NIPT, in addition with consideration of the conditions in China, clinical utility of NIPT for particular groups of pregnant women, including those with advanced maternal age, obesity, twin pregnancy and fetal ultrasonographic anomalies, are reviewed. The value of genetic counseling for NIPT is also emphasized, which is critical for the clinical application of NIPT.
