[Progress of research on clinical use of non-invasive prenatal screening for special groups of pregnant women]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jul 10;38(7):694-698. doi: 10.3760/cma.j.cn511374-20201103-00772.
[Article in 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.

MeSH terms

  • China
  • Chromosome Aberrations
  • Female
  • Humans
  • Pregnancy
  • Pregnant People*
  • Prenatal Diagnosis*
  • Trisomy 13 Syndrome