Эффективность неинвазивного пренатального тестирования при многоплодии: систематический обзор и метаанализ

1. Малышева О.В., Баранов В.С. Неинвазивная пренатальная диагностика. Проблемы, подходы и перспективы. Журнал акушерства и женских болезней. 2012; 61(3): 83-93.
2. Levy B., Stosic M. Traditional prenatal diagnosis: past to present. Methods Mol. Biol. 2018; 1885: 3-22. https://dx.doi.org/10.1007/978-1-4939-8889-1_1.
3. Министерство здравоохранения Российской Федерации. Клинические рекомендации. Нормальная беременность. 2020.
4. Mackie F., Hemming K., Allen S., Morris R., Kilby M. The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG. 2016; 124(1): 32-46. https://dx.doi.org/10.1111/1471-0528.14050.
5. Gil M.M., Galeva S., Jani J., Konstantinidou L., Akolekar R., Plana M.N., Nicolaides K.H. Screening for trisomies by cfdna testing of maternal blood in twin pregnancy: update of The Fetal Medicine Foundation results and meta‐analysis. Ultrasound Obstet. Gynecol. 2019; 53(6): 734-42. https://dx.doi.org/10.1002/uog.20284.
6. Santorum M., Wright D., Syngelaki A., Karagioti N., Nicolaides K.H. Accuracy of first-trimester combined test in screening for trisomies 21, 18 and 13. Ultrasound Obstet. Gynecol. 2017; 49(6): 714-20. https://dx.doi.org/10.1002/uog.17283.
7. Xue Y., Zhao G., Li H., Zhang Q., Lu J., Yu B., Wang T. Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies. Mol. Cytogen. 2019; 12: 29. https://dx.doi.org/10.1186/s13039-019-0441-5.
8. Bender W., Dugoff L. Screening for aneuploidy in multiple gestations. Obstet. Gynecol. Clin. North Am. 2018; 45(1): 41-53. https://dx.doi.org/10.1016/j.ogc.2017.10.004.
9. Zohav E., Segal O., Rabinson J., Meltcer S., Anteby E.Y., Orvieto R. Quality of nuchal translucency measurements in multifetal pregnancies. J. Matern. Fetal Neonatal Med. 2006; 19(10): 663-6. https://dx.doi.org/10.1080/14767050600849342.
10. Hedriana H., Martin K., Saltzman D., Billings P., Demko Z., Benn P. Cell-free DNA fetal fraction in twin gestations in single nucleotide polymorphism‐based non‐invasive prenatal screening. Prenat. Diagn. 2020; 40(2): 179-84. https://dx.doi.org/10.1002/pd.5609.
11. Canick J.A., Kloza E.M., Lambert-Messerlian G.M., Haddow J.E., Ehrich M., Boom D., Palomaki G.E. DNA sequencing of maternal plasma to identify Down syndrome and other trisomies in multiple gestations. Prenat. Diagn. 2012; 32(8): 730-4. https://dx.doi.org/10.1002/pd.3892.
12. Van Rhee H.J., Suurmond R., Hak T. User manual for meta-essentials: Workbooks for meta-analysis (Version 1.4) Rotterdam, The Netherlands: Erasmus Research Institute of Management. 2015. Retrieved from: www.erim.eur.nl/research-support/meta-essentials
13. Whiting P.F., Rutjes A.W.S., Westwood M.E., Mallett S., Deeks J.J., Reitsma J.B. et al. QUADAS-2: a revised tool for the quality assessment of diagnostic accuracy studies. Ann. Intern. Med. 2011; 155(8): 529-36. https://dx.doi.org/10.1059/0003-4819-155-8-201110180-00009.
14. Yu W., Lv Y., Yin S., Liu H., Li X., Liang B., Kong L., Liu C. Screening of fetal chromosomal aneuploidy diseases using noninvasive prenatal testing in twin pregnancies. Expert Rev. Mol. Diagn. 2019; 19(2): 189-96. https://dx.doi.org/10.1080/14737159.2019.1562906.
15. Gil M.M., Galeva S., Jani J., Konstantinidou L., Akolekar R., Plana M.N., Nicolaides K.H. Screening for trisomies by cfdna testing of maternal blood in twin pregnancy: update of The Fetal Medicine Foundation results and meta‐analysis. Ultrasound Obstet. Gynecol. 2019; 53(6): 734-42. https://dx.doi.org/10.1002/uog.20284.
16. Norwitz E.R., McNeill G., Kalyan A., Rivers E., Ahmed E., Meng L. et al. Validation of a single-nucleotide polymorphism-based non-invasive prenatal test in twin gestations: determination of zygosity, individual fetal sex, and fetal aneuploidy. J. Clin. Med. 2019; 8(7): 937. https://dx.doi.org/10.3390/jcm8070937.
17. Chen M., Jiang F., Guo Y., Yan H., Wang J., Zhang L. et al. Validation of fetal DNA fraction estimation and its application in noninvasive prenatal testing for aneuploidy detection in multiple pregnancies. Prenat. Diagn. 2019; 39(13): 1273-82. https://dx.doi.org/10.1002/pd.5597.
18. Yang J., Qi Y., Hou Y., Guo F., Peng H., Wang D. et al. Performance of non-invasive prenatal testing for trisomies 21 and 18 in twin pregnancies. Mol. Cytogen. 2018: 11: 47. https://dx.doi.org/10.1186/s13039-018-0392-2.
19. Motevasselian M., Gargari S.S., Younesi S., Pooransari P., Saadati P., Mirzamoradi M. et al. Non-invasive prenatal test to screen common trisomies in twin pregnancies. Mol. Cytogen. 2020; 13: 5. https://dx.doi.org/10.1186/s13039-020-0475-8.
20. Fosler L., Winters P., Jones K.W., Curnow K.J., Sehnert A.J., Bhatt S., Platt L.D. Aneuploidy screening by non-invasive prenatal testing in twin pregnancy. Ultrasound Obstet. Gynecol. 2017; 49(4): 470-7. https://dx.doi.org/10.1002/uog.15964.
21. Sarno L., Revello R., Hanson E., Akolekar R., Nicolaides K.H. Prospective first-trimester screening for trisomies by cell-free DNA testing of maternal blood in twin pregnancy. Ultrasound Obstet. Gynecol. 2016; 47(6): 705-11. https://dx.doi.org/10.1002/uog.15913.
22. Khalil A., Archer R., Hutchinson V., Mousa H.A., Johnstone E.D., Cameron M.J. et al. Noninvasive prenatal screening in twin pregnancies with cell-free DNA using the IONA test: a prospective multicenter study. Am. J. Obstet. Gynecol. 2021; 225(1): 79. e1-79. e13. https://dx.doi.org/10.1016/j.ajog.2021.01.005.
23. Le Conte G., Letourneau A., Jani J., Kleinfinger P., Lohmann L., Costa J.-M., Benachi A. Cell-free fetal DNA analysis in maternal plasma as screening test for trisomies 21, 18 and 13 in twin pregnancy. Ultrasound Obstet. Gynecol. 2018; 52(3): 318-24. https://dx.doi.org/10.1002/uog.18838.
24. Du E., Feng C., Cao Y., Yao Y., Lu J., Zhang Y. Massively Parallel Sequencing (MPS) of cell-free fetal DNA (cffDNA) for trisomies 21, 18, and 13 in twin pregnancies. Twin Res. Hum. Genet. 2017; 20(3): 242-9. https://dx.doi.org/10.1017/thg.2017.23.
25. Huang X., Zheng J., Chen M., Zhao Y., Zhang C., Liu L. et al. Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies. Prenat. Diagn. 2014; 34(4): 335-40. https://dx.doi.org/10.1002/pd.4303.
26. Bevilacqua E., Gil M.M., Nicolaides K.H., Ordoñez E., Cirigliano V., Dierickx H. et al. Performance of screening for aneuploidies by cell-free DNA analysis of maternal blood in twin pregnancies. Ultrasound Obstet. Gynecol. 2014; 45(1): 61-6. https://dx.doi.org/10.1002/uog.14690.
27. Gil M.M., Quezada M.S., Bregant B., Syngelaki A., Nicolaides K.H. Cell-free DNA analysis for trisomy risk assessment in first-trimester twin pregnancies. Fetal Diagn. Ther. 2013; 35(3): 204-11. https://dx.doi.org/10.1159/000356495.
28. Galeva S., Konstantinidou L., Gil M.M., Akolekar R., Nicolaides K.H. Routine first-trimester screening for fetal trisomies in twin pregnancies: cell-free DNA test contingent on results from the combined test. Ultrasound Obstet. Gynecol. 2019; 53(2): 208-13. https://dx.doi.org/10.1002/uog.20160.
29. Zhang H., Gao Y., Jiang F., Fu M., Yuan Y., Guo Y. et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies. Ultrasound Obstet. Gynecol. 2015; 45(5): 530-8. https://dx.doi.org/10.1002/uog.14792.
30. Tan Y., Gao Y., Lin G., Fu M., Li X., Yin X. et al. Noninvasive prenatal testing (NIPT) in twin pregnancies with treatment of assisted reproductive techniques (ART) in a single center. Prenat. Diagn. 2016; 36(7): 672-9. https://dx.doi.org/10.1002/pd.4837.
31. Mackie F., Hemming K., Allen S., Morris R., Kilby M. The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG. 2016; 124(1): 32-46. https://dx.doi.org/10.1111/1471-0528.14050.
32. Struble C.A., Syngelaki A., Oliphant A., Song K., Nicolaides K.H. Fetal fraction estimate in twin pregnancies using directed cell-free DNA analysis. Fetal Diagn. Ther. 2014; 35(3): 199-293. https://dx.doi.org/10.1159/000355653.

Поступила 04.05.2021

Принята в печать 21.06.2021