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The impact of preimplantation genetic testing for aneuploidy on prenatal screening

  • Moti Gulersen ORCID logo EMAIL logo , Alexandra Peyser , Jiyoung Kim , Amanda Ferraro , Randi Goldman , Christine Mullin , Xueying Li , David Krantz , Eran Bornstein and Burton Rochelson
Published/Copyright: November 26, 2021

Abstract

Objectives

To determine whether preimplantation genetic testing for aneuploidy (PGT-A) is associated with a reduced risk of abnormal conventional prenatal screening results in singleton pregnancies conceived using in vitro fertilization (IVF).

Methods

This was a retrospective cohort study of singleton IVF pregnancies conceived from a single tertiary care center between January 2014 and September 2019. Exclusion criteria included mosaic embryo transfers, vanishing twin pregnancies, and cycles with missing outcome data. Two cases of prenatally diagnosed aneuploidy that resulted in early voluntary terminations were also excluded. The primary outcome of abnormal first or second-trimester combined screening results was compared between two groups: pregnancy conceived after transfer of a euploid embryo by PGT-A vs. transfer of an untested embryo. Multivariable backwards-stepwise logistic regression with Firth method was used to adjust for potential confounders.

Results

Of the 419 pregnancies included, 208 (49.6%) were conceived after transfer of a euploid embryo by PGT-A, and 211 (50.4%) were conceived after transfer of an untested embryo. PGT-A was not associated with a lower likelihood of abnormal first-trimester (adjusted OR 1.64, 95% CI 0.82–3.39) or second-trimester screening results (adjusted OR 0.96, 95% CI 0.56–1.64). The incidences of cell-free DNA testing, fetal sonographic abnormalities, genetic counseling, and invasive prenatal diagnostic testing were similar between the two groups.

Conclusions

Our data suggest that PGT-A is not associated with a change in the likelihood of abnormal prenatal screening results or utilization of invasive prenatal diagnostic testing. Counseling this patient population regarding the importance of prenatal screening and prenatal diagnostic testing, where appropriate, remains essential.


Corresponding author: Moti Gulersen, MD, MSc, Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, North Shore University Hospital, 300 Community Drive, Manhasset, NY 11030, USA, Phone: +1 516 562 2892, E-mail:

  1. Research funding: None declared.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was not required for this study.

  5. Ethical approval: An Institutional Review Board approval was obtained.

References

1. American College of Obstetricians and Gynecologists. Screening for Fetal Chromosomal Abnormalities. ACOG practice bulletin number 226. Washington, DC: American College of Obstetricians and Gynecologists; 2020.Search in Google Scholar

2. Malone, FD, Canick, JA, Ball, RH, Nyberg, DA, Comstock, CH, Bukowski, R, et al.. First-trimester or second-trimester screening, or both, for Down’s syndrome. N Engl J Med 2005;353:2001–11. https://doi.org/10.1056/nejmoa043693.Search in Google Scholar

3. Breathnach, FM, Malone, FD, Lambert-Messerlian, G, Cuckle, HS, Porter, TF, Nyberg, DA, et al.. First- and second-trimester screening: detection of aneuploidies other than Down syndrome. Obstet Gynecol 2007;110:651–7. https://doi.org/10.1097/01.aog.0000278570.76392.a6.Search in Google Scholar

4. Wapner, R, Thom, E, Simpson, JL, Pergament, E, Silver, R, Filkins, K, et al.. First-trimester screening for trisomies 21 and 18. N Engl J Med 2003;349:1405–13. https://doi.org/10.1056/nejmoa025273.Search in Google Scholar

5. Practice Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology. The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion. Fertil Steril 2018;109:429–36. https://doi.org/10.1016/j.fertnstert.2018.01.002.Search in Google Scholar

6. American College of Obstetricians and Gynecologists. Preimplantation genetic testing. ACOG committee opinion number 799. Washington, DC: American College of Obstetricians and Gynecologists; 2020.Search in Google Scholar

7. Harper, JC, Wilton, L, Traeger-Synodinos, J, Goossens, V, Moutou, C, SenGupta, SB, et al.. The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update 2012;18:234–47. https://doi.org/10.1093/humupd/dmr052.Search in Google Scholar

8. Thornhill, AR, deDie-Smulders, CE, Geraedts, JP, Harper, JC, Harton, GL, Lavery, SA, et al.. ESHRE PGD Consortium ‘Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS)’. Hum Reprod 2005;20:35–48. https://doi.org/10.1093/humrep/deh579.Search in Google Scholar

9. Munne, S, Kaplan, B, Frattarelli, JL, Child, T, Nakhuda, G, Shamma, FN, et al.. Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial. Fertil Steril 2019;112:1071–9.e7. https://doi.org/10.1016/j.fertnstert.2019.07.1346.Search in Google Scholar

10. Schattman, GL. Preimplantation genetic testing for aneuploidy: It’s déjà vu all over again. Fertil Steril 2019;112:1046–7. https://doi.org/10.1016/j.fertnstert.2019.08.102.Search in Google Scholar

11. Orvieto, R, Gleicher, N. Preimplantation genetic testing for aneuploidy (PGT-A)- finally revealed. J Assist Reprod Genet 2020;37:669–72. https://doi.org/10.1007/s10815-020-.01705-w.Search in Google Scholar

12. Gardner, DK, Lane, M, Stevens, J, Schlenker, T, Schoolcraft, WB. Blastocyst score affects implantation and pregnancy outcome: towards a single blastocyst transfer. Fertil Steril 2000;73:1155–8. https://doi.org/10.1016/s0015-0282(00)00518-5.Search in Google Scholar

13. Markova, D, Kagan, O, Hoopmann, M, Abele, H, Coughlan, C, Abecia, E, et al.. Impact of preimplantation genetic testing for aneuploidies (PGT-A) on first trimester biochemical markers – PAPP-A (placenta-associated plasma protein) and free β-hCG (human chorionic gonadotropin). J Matern Fetal Neonatal Med 2021 Apr. [Epub ahead of print].10.1080/14767058.2021.1906857Search in Google Scholar PubMed

14. Swanson, K, Huang, D, Kaing, A, Blat, C, Rosenstein, MG, Mok-Lin, E, et al.. Is preimplantation genetic testing associated with increased risk of abnormal placentation after frozen embryo transfer? Am J Perinatol 2021;38:105–10. https://doi.org/10.1055/s-0040-1714681.Search in Google Scholar PubMed

15. Zhang, WY, von Versen-Hoynck, F, Kapphahn, KI, Fleischmann, RR, Zhao, Q, Baker, VL. Maternal and neonatal outcomes associated with trophectoderm biopsy. Fertil Steril 2019;112:283–90.e2. https://doi.org/10.1016/j.fertnstert.2019.03.033.Search in Google Scholar PubMed PubMed Central

16. Feldman, B, Orvieto, R, Weisel, M, Aizer, A, Meyer, R, Haas, J, et al.. Obstetric and perinatal outcomes in pregnancies conceived after preimplantation genetic testing for monogenetic diseases. Obstet Gynecol 2020;136:782–91. https://doi.org/10.1097/aog.0000000000004062.Search in Google Scholar

17. Riestenberg, CK, Mok, T, Ong, JR, Platt, LD, Han, CS, Quinn, MM. Sonographic abnormalities in pregnancies conceived following IVF with and without preimplantation genetic testing for aneuploidy (PGT-A). J Assist Reprod Genet 2021;38:865–71. https://doi.org/10.1007/s10815-021-02069-5.Search in Google Scholar PubMed PubMed Central

18. Kimelman, D, Confino, R, Confino, E, Shulman, LP, Zhang, JX, Pavone, ME. Do patients who achieve pregnancy using IVF-PGS do the recommended genetic diagnostic testing in pregnancy? J Assist Reprod Genet 2018;35:1881–5. https://doi.org/10.1007/s10815-018-1289-z.Search in Google Scholar PubMed PubMed Central

19. Arian, SE, Erfani, H, Westerfield, LE, Buffie, A, Nassef, S, Gibbons, WE, et al.. Prenatal testing in pregnancies conceived by in vitro fertilization with pre-implantation genetic testing. Prenat Diagn 2020;40:846–51. https://doi.org/10.1002/pd.5711.Search in Google Scholar PubMed

20. Gulersen, M, Baum, S, Bornstein, E, Krantz, D, Singer, T, Divon, MY. The impact of preimplantation genetic testing on prenatal diagnostic procedures. J Matern Fetal Neonatal Med 2021;34:3066–9. https://doi.org/10.1080/14767058.2019.1677598.Search in Google Scholar PubMed

21. Norton, ME, Jacobsson, B, Swamy, GK, Laurent, LC, Ranzini, AC, Brar, H, et al.. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015;372:1589–97. https://doi.org/10.1056/nejmoa1407349.Search in Google Scholar PubMed

22. Kagan, KO, Sroka, F, Sonek, J, Abele, H, Luthgens, K, Schmid, M, et al.. First-trimester risk assessment based on ultrasound and cell-free DNA vs combined screening: a randomized controlled trial. Ultrasound Obstet Gynecol 2018;51:437–44. https://doi.org/10.1002/uog.18905.Search in Google Scholar PubMed

Received: 2021-09-26
Accepted: 2021-10-22
Published Online: 2021-11-26
Published in Print: 2022-03-28

© 2021 Walter de Gruyter GmbH, Berlin/Boston

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