Drug Discov Ther. 2023;17(5):365-367. (DOI: 10.5582/ddt.2023.01051)

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

Huang FX, Zhou J, Xu ZY, Qi Q, Sun HM, Chen L, Wang L


SUMMARY

Complete chromosome 9 trisomy (T9) is a rare and fatal chromosomal disorder. We performed noninvasive 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: noninvasive prenatal testing, amniocentesis, complete trisomy 9, early threatened abortion

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