About
The Journal "Obstetrics and Gynecology"Journal HistoryAims and ScopePolicies on Conflict of Interest, Human and Animal Rights, and Informed ConsentEditorial ProcessData sharing statementAdvertising PolicyThe Process for Handling Cases Requiring Corrections, Retractions, and Editorial Expressions of ConcernEditorial BoardEditorial CounsilInformation for ProfessionalsNewsContacts
ArchiveEthical StandardsSubscription
For authors
InstructionsInformed consent policyContract offerEASE GuidelinesICJME CriteriaWAME Recommendations on ChatGPT and Chatbots in Relation to Scholarly Publications
Reviewing
Procedure for reviewingReviewers 2023-2024
About
The Journal "Obstetrics and Gynecology"Journal HistoryAims and ScopePolicies on Conflict of Interest, Human and Animal Rights, and Informed ConsentEditorial ProcessData sharing statementAdvertising PolicyThe Process for Handling Cases Requiring Corrections, Retractions, and Editorial Expressions of ConcernEditorial BoardEditorial CounsilInformation for ProfessionalsNewsContacts
ArchiveEthical StandardsSubscription
For authors
InstructionsInformed consent policyContract offerEASE GuidelinesICJME CriteriaWAME Recommendations on ChatGPT and Chatbots in Relation to Scholarly Publications
Reviewing
Procedure for reviewingReviewers 2023-2024
Logout
Obstetrics and Gynegology2021№7
The effectiveness of non-invasive prenatal...

The effectiveness of non-invasive prenatal testing in multiple pregnancy: a systematic review and a meta-analysis

DOI
https://dx.doi.org/10.18565/aig.2021.7.10-18

Bespalova O.N., Butenko M.G., Pachulia O.V., Glotov A.S., Kogan I.Yu.

D.O. Ott Research Institute of Obstetrics, Gynecology, and Reproductology, Saint Petersburg, Russia
Objective. To study the effectiveness of non-invasive prenatal testing (NIPT) for trisomy 21, 18, and 13 in twin pregnancy, by using a meta-analysis.
Materials and methods. The meta-analysis was carried out in accordance with the user’s guide for writing a meta-analysis, which had been recommended by the Cochrane community 2016. The investigators analyzed the literature found in the largest databases: MEDLINE via PubMed, EMBASE, CENTRAL (Cochrane Library), ClinicalTrials.gov, and the World Health Organization International Clinical Trials Registry Platform (ICTRP). The indicators were estimated by the meta-analysis using Review Manager 5.4.1 (Cochrane col., UK).
Results. A total of 19 trials were selected and analyzed. A total of 7138 pregnant women were included in the meta-analysis. The latter revealed that the sensitivity and specificity of NIPT for trisomy 21, 18, and
13 in the fetus were 0.98 (95% CI 0.75–1.00), 0.99 (95% CI 0.99–1.00), and 0.97 (95% CI 0.5–1.00), and
0.99 (95% CI 0.99–1.00), 0.875 (95% CI 0–1.00), and 0.99 (95% CI 0.99–1.00), respectively.
Conclusion. NIPT demonstrates the high efficiency of detecting trisomy 21 and 18, which is comparable to singlet pregnancy. The authors could not significantly evaluate the effectiveness of NIPT for trisomy 13, due to the insufficient number of trials, in which the pregnancies at increased risk for trisomy 13 were identified.

Keywords

non-invasive prenatal test
non-invasive prenatal diagnosis
fetal DNA
fetal fraction
twin pregnancy
Full text (in Russian)

References

  1. Малышева О.В., Баранов В.С. Неинвазивная пренатальная диагностика. Проблемы, подходы и перспективы. Журнал акушерства и женских болезней. 2012; 61(3): 83-93. [Malysheva O.V., Baranov V.S. Noninvasive prenatal diagnostic. Problems, approaches and perspectives. Zhurnal akusherstva i zhenskih boleznej/ Journal of Obstetrics and Women's Diseases. 2012; 61(3): 83-93. (in Russian)].
  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. [Normal pregnancy. Clinical guidelines of Ministry of Health of the Russian Federation, 2020. (in Russian)].
  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.

Received 04.05.2021

Accepted 21.06.2021

About the Authors

Olesya N. Bespalova, PhD, Deputy Director, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology.
Tel.: +7(812)328-98-68. E-mail: bespalova.olesya.0308@gmail.com. ORCID: 0000-0002-6542-5953. 199034, Russia, St. Petersburg, Mendeleyevskaya Liniya, 3.
Maria G. Butenko, resident, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology. Tel.: +7(981)963-67-17. E-mail: butenkomariabutenko@gmail.com.
ORCID: 0000-0002-1404-371X. 199034, Russia, St. Petersburg, Mendeleyevskaya Liniya, 3.
Olga V. Pachuliya, obstetrician-gynecologist, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology. Tel.: +7(952)268-73-36.
E-mail: for.olga.kosyakova@gmail.com. ORCID: 0000-0003-4116-0222. 199034, Russia, St. Petersburg, Mendeleyevskaya Liniya, 3.
Andrey S. Glotov, PhD, Senior Researcher, Head of Department of Genomic Medicine, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology.
Tel.: +7(812)679-55-51. E-mail: anglotov@mail.ru. ORCID: 0000-0002-7465-4504. 199034, Russia, St. Petersburg, Mendeleyevskaya Liniya, 3.
Igor Yu. Kogan, Corresponding Member of RAS, Dr. Med. Sci., Professor, Director of D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology.
Tel.: +7(812)32-98-22. E-mail: ovrt@ott.ru. ORCID: 0000-0002-7351-6900. 199034, Russia, St. Petersburg, Mendeleyevskaya Liniya, 3.

For citation: Bespalova O.N., Butenko M.G., Pachulia O.V., Glotov A.S., Kogan I.Yu. The effectiveness of non-invasive prenatal testing in multiple pregnancy: a systematic review and a meta-analysis.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2021; 7: 10-18 (in Russian)
https://dx.doi.org/10.18565/aig.2021.7.10-18

Similar Articles

№11 / 2018
Tskhay V.B., Bazina M.I., Lobanova T.T.
The likelihood of a successful simultaneous twin pregnancy in two wombs in the congenital anomaly complete double uterus
№2 / 2017
Vinitskiy A.A., Shmakov R.G.
The modern concepts of etiology and pathogenesis placenta accreta and prospects of its prediction by molecular diagnostics
№10 / 2022
Tarasenko O.A., Vashukova E.S., Kozyulina P.Yu., Morshneva A.V., Maltseva A.R., Pachulia O.V., Talantova O.E., Koroteev A.L., Ivashchenko T.E., Bespalova O.N., Kogan I.Yu., Baranov V.S., Glotov A.S.
Experience of using high-throughput sequencing (NGS) for noninvasive prenatal screening of fetal aneuploidy at the D.O. Ott Research Institute of Obstetrics, Gynecology and Reproduction
By continuing to use our site, you consent to the processing of cookies that ensure the proper functioning of the site.