Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing.

Talantova OE, Koltsova AS, Tikhonov AV, et al. Genes (Basel). 2023;14(4):913. Published 2023 Apr 14. doi:10.3390/genes14040913. Open Access: Learn more

Tags: Case Report / Case Series, 2023, Russia, RAAs

  • Case report of a woman with a positive result for trisomy 2 by GW-NIPT following a negative targeted NIPT for common trisomies and subsequent abnormal ultrasounds at 13/14 and 16/17 weeks. Low-level true fetal mosaicism of trisomy 2 and multiple congenital anomalies were confirmed.