NIPT high-risk of trisomy 16 as a predictor of complicated pregnancy course
https://doi.org/10.25557/2073-7998.2026.06.26-35
Abstract
Fetal trisomy 16 is one of the frequent causes in first-trimester spontaneous pregnancy losses. Also, it is often found confined to the placenta (confined placental mosaicism), which, according to the literature, may be the cause of complicated pregnancy course. Currently, a noninvasive prenatal testing (NIPT) is widely used to detect risks of fetal chromosomal abnormalities (CA) based on the analysis of cell-free fetoplacental DNA. Whole-genome NIPT allows to determine the risks of rare CAs, including trisomy 16. Here we presented 5 NIPT high-risk cases of trisomy 16 with a complicated course of pregnancy.
Keywords
About the Authors
M. T. KaplanovaRussian Federation
20, 4th Roshchinsky Prospekt, Moscow, 115191
A. M. Galaktionova
Russian Federation
20, 4th Roshchinsky Prospekt, Moscow, 115191
A. A. Potapov
Russian Federation
20, 4th Roshchinsky Prospekt, Moscow, 115191
E. E. Baranova
Russian Federation
2/1-1, Barrikadnaya str., Moscow, 125993
O. V. Sagaydak
Russian Federation
20, 4th Roshchinsky Prospekt, Moscow, 115191
E. S. Kuznetsova
Russian Federation
20, 4th Roshchinsky Prospekt, Moscow, 115191
24/1 Sevastopolskiy Avenue, Moscow, 117209
M. S. Belenikin
Russian Federation
20, 4th Roshchinsky Prospekt, Moscow, 115191
V. A. Gnetetskaya
Russian Federation
20, 4th Roshchinsky Prospekt, Moscow, 115191
24/1 Sevastopolskiy Avenue, Moscow, 117209
I. S. Vlasov
Russian Federation
8, bldg.3 Sosensky Stan str., 8, Sosenskoye settlement, Kommunarka, Moscow, 108814
A. S. Olenev
Russian Federation
42, bldg. 1, Lobachevskogo str., Moscow, 119415
References
1. Wang Y., Zhou R., Jiang L., et al. Identification of Chromosomal Abnormalities in Early Pregnancy Loss Using a High-Throughput Ligation-Dependent Probe Amplification–Based Assay. The Journal of Molecular Diagnostics [Internet]. 2021;23(1):38–45. Available from: http://dx.doi.org/10.1016/j.jmoldx.2020.10.002
2. Langlois S., Yong P.J., Yong S.L., et al. Postnatal follow-up of prenatally diagnosed trisomy 16 mosaicism. Prenat Diagn. 2006;26(6):548-58. doi: 10.1002/pd.1457.
3. Yong P.J., Barrett I.J., Kalousek D.K., Robinson W.P. Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet. 2003;40(3):175-82. doi: 10.1136/jmg.40.3.175.
4. Grau Madsen S., Uldbjerg N., Sunde L., et al. Prognosis for pregnancies with trisomy 16 confined to the placenta: A Danish cohort study. Prenat Diagn. 2018;38(13):1103-1110. doi: 10.1002/pd.5370.
5. Dungan J.S., Klugman S., Darilek S., et al. Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2023;25(2):100336. doi: 10.1016/j.gim.2022.11.004
6. Moradkhani K., Puechberty J., Blanchet P., et al. Mosaic trisomy 16 in a fetus: the complex relationship between phenotype and genetic mechanisms. Prenatal Diagnosis. 2006; 26(12), 1179–1182. doi:10.1002/pd.1585;
7. Sparks T.N., Thao K., Norton M.E. Mosaic trisomy 16: what are the obstetric and long-term childhood outcomes? Genet Med. 2017;19(10):1164-1170. doi: 10.1038/gim.2017.23
8. Peng H., Yang J., Wang D., et al. Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports. Mol Cytogenet. 2021;14(1):44. doi: 10.1186/s13039-021-00559-w
9. Benn P. Trisomy 16 and trisomy 16 Mosaicism: a review. Am J Med Genet. 1998;79(2):121-33,
10. Gasymova Sh.R., Donnikov A.E Somaticheskiy tkanevoy mozaitsizm po khromosome 16 i yego svyaz’ s zaderzhkoy rosta ploda [Somatic tissue chromosome 16 mosaicism and its relationship to fetal growth retardation]. Akusherstvo i ginekologiya [Akusherstvo i Ginekologiya]. 2022; 7: 28-33 dx.doi:10.18565/aig.2022.7.28-33, (In Russ.)
11. Chen C.P., Lan F.H., Chern S.R., et al. Prenatal diagnosis of mosaic trisomy 16 by amniocentesis in a pregnancy associated with abnormal first-trimester screening result (low PAPP-A and low PlGF), intrauterine growth restriction and a favorable outcome. Taiwan J Obstet Gynecol. 2021;60(6):1107-1111. doi: 10.1016/j.tjog.2021.09.026
12. Panchenko E., Semenova N., Sereda O., et al. Clinical and Molecular Presentation of a Patient with Paternal Uniparental Isodisomy of Chromosome 16. International Journal of Molecular Sciences. 2025; 26(17):8521. https://doi.org/10.3390/ijms26178521
13. Genes by species [Электронный ресурс] // Geneimprint. URL: https://www.geneimprint.com/site/genes-by-species
14. Sachwitz J., Strobl-Wildemann G., Fekete G., et al. Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes. BMC Med Genet. 2016;17:20. doi: 10.1186/s12881-016-0280-8
15. Chen C.P., Ko T.M., Chern S.R., et al. Prenatal diagnosis of maternal uniparental disomy 16 associated with mosaic trisomy 16 at amniocentesis, and pericardial effusion and intrauterine growth restriction in the fetus. Taiwan J Obstet Gynecol. 2021;60(3):534-539. doi: 10.1016/j.tjog.2021.03.027
16. Inoue T., Yagasaki H., Nishioka J., et al. Molecular and clinical analyses of two patients with UPD(16)mat detected by screening 94 patients with Silver-Russell syndrome phenotype of unknown aetiology. J Med Genet. 2019;56(6):413-418. doi: 10.1136/jmedgenet-2018-105463
17. Grau Madsen S., Uldbjerg N., Sunde L., et al. Prognosis for pregnancies with trisomy 16 confined to the placenta: A Danish cohort study. Prenat Diagn. 2018;38(13):1103-1110. doi: 10.1002/pd.5370
18. Verwoerd-Dikkeboom C.M., van Heesch P.N., Koning A.H., et al. Embryonic delay in growth and development related to confined placental trisomy 16 mosaicism, diagnosed by I-Space Virtual Reality. Fertil Steril. 2008;90(5):2017.e19-22. doi: 10.1016/j.fertnstert.2008.07.1721
19. Petracchi F., Igarzabal L., Crespo M.L., Gadow E. Trisomy 16 detected by first trimester screening. Prenat Diagn. 2009;29(12):1175-6. doi: 10.1002/pd.2369
20. Zimmermann R., Lauper U., Streicher A., et al. Elevated alpha-fetoprotein and human chorionic gonadotropin as a marker for placental trisomy 16 in the second trimester? Prenat Diagn. 1995;15(12):1121-4. doi: 10.1002/pd.1970151207
21. Spencer K., Pertile M.D., Bonacquisto L., et al. First trimester detection of trisomy 16 using combined biochemical and ultrasound screening. Prenat Diagn. 2014;34(3):291-5. doi: 10.1002/pd.4285
Review
For citations:
Kaplanova M.T., Galaktionova A.M., Potapov A.A., Baranova E.E., Sagaydak O.V., Kuznetsova E.S., Belenikin M.S., Gnetetskaya V.A., Vlasov I.S., Olenev A.S. NIPT high-risk of trisomy 16 as a predictor of complicated pregnancy course. Medical Genetics. 2026;25(6):26-35. (In Russ.) https://doi.org/10.25557/2073-7998.2026.06.26-35
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