Russia Archives - Global NIPT Consortium https://niptconsortium.com/category/russia/ Noninvasive Prenatal Testing (NIPT) Consortium Thu, 30 Nov 2023 18:30:15 +0000 en-US hourly 1 Prenatal Detection of Trisomy 2: Considerations for Genetic Counseling and Testing. https://niptconsortium.com/prenatal-detection-of-trisomy-2-considerations-for-genetic-counseling-and-testing/ Thu, 30 Nov 2023 16:06:53 +0000 https://niptconsortium.com/?p=9976 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 […]

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]]> 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.

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]]> Whole genome non-invasive prenatal testing in prenatal screening algorithm: clinical experience from 12,700 pregnancies. https://niptconsortium.com/whole-genome-non-invasive-prenatal-testing-in-prenatal-screening-algorithm-clinical-experience-from-12700-pregnancies/ Wed, 30 Nov 2022 16:33:26 +0000 https://niptconsortium.com/?p=10030 Baranova EE, Sagaydak OV, Galaktionova AM, et al. BMC Pregnancy Childbirth. 2022;22(1):633. Published 2022 Aug 9. doi:10.1186/s12884-022-04966-8. Open Access: Learn more Tags: Clinical Experience / Clinical Utility, 2022, Russia, RAAs, CNVs “258 (2.0%) samples with positive NIPT results were detected including 126 cases of trisomy 21 (T21), 40 cases of T18, 12 cases of T13, […]

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]]> Baranova EE, Sagaydak OV, Galaktionova AM, et al. BMC Pregnancy Childbirth. 2022;22(1):633. Published 2022 Aug 9. doi:10.1186/s12884-022-04966-8. Open Access: Learn more

Tags: Clinical Experience / Clinical Utility, 2022, Russia, RAAs, CNVs

  • “258 (2.0%) samples with positive NIPT results were detected including 126 cases of trisomy 21 (T21), 40 cases of T18, 12 cases of T13, 41 cases of sex chromosome aneuploidies (SCAs) and 39 cases of rare autosomal aneuploidies (RAAs) and significant copy number variations (CNVs).”
  • The most common RAAs were T7 (n=6), T16 (n=4), T8 (n=3) and T22 (n=3).

PPVs were 98.26% for T12, 91.67% for T18/13, 57.14% for SCAs, and 44.83% for RAAs/CNVs.

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