Complete trisomy 9 detected by noninvasive prenatal testing and confirmed by amniocentesis

Drug Discov Ther. 2023 Nov 18;17(5):365-367. doi: 10.5582/ddt.2023.01051. Epub 2023 Oct 11.

Abstract

Complete chromosome 9 trisomy (T9) is a rare and fatal chromosomal disorder. We performed non-invasive prenatal testing (NIPT) in a patient with threatened abortion symptoms and found that the fetal was at risk for complete chromosome 9 trisomy. This shows that NIPT has certain accuracy in detecting trisomy of chromosome 9, which provide options for prenatal diagnosis of rare chromosomal abnormalities.

Keywords: amniocentesis; complete trisomy 9; early threatened abortion; noninvasive prenatal testing.

MeSH terms

  • Amniocentesis*
  • Chromosomes, Human, Pair 9
  • Female
  • Humans
  • Noninvasive Prenatal Testing*
  • Pregnancy
  • Trisomy / diagnosis
  • Trisomy / genetics

Supplementary concepts

  • Chromosome 9, trisomy