Comment on the Recent PGDIS Position Statement on the Transfer of Mosaic Embryos 2021

Overview

Journal J Assist Reprod Genet

Publisher Springer

Specialties Genetics
Reproductive Medicine

Date 2022 Sep 23

PMID 36149614

Authors

Maximilian Murtinger

Maximilian Schuff

Barbara Wirleitner

Susanna Miglar

Dietmar Spitzer

Affiliations

Soon will be listed here.

Abstract

The worldwide demand of preimplantation genetic testing for aneuploidy (PGT-A) is still growing. However, chromosomal mosaic results greatly challenge the clinical practice. The recently published PGDIS Position Statement on the Transfer of Mosaic Embryos is the third PGDIS position statement on how to deal with embryos diagnosed as chromosomal mosaics (CM) and, one of many attempts of different societies and working groups to provide a guideline for clinicians, laboratories, clinics, and genetic counselors. But still, as in previous statements, many issues remained unresolved. Moreover, from our point of view, the question how to deal with embryos diagnosed as CM, consisting of two or more karyological cell lines cannot be separated from all the other aspects of PGT-A including its accuracy. The paucity of clearcut indications for PGT-A and evidence of benefit as well as an overall cost-benefit assessment is given below.

Citing Articles

Evolution of Minimally Invasive and Non-Invasive Preimplantation Genetic Testing: An Overview.

Moustakli E, Zikopoulos A, Skentou C, Bouba I, Dafopoulos K, Georgiou I J Clin Med. 2024; 13(8).

PMID: 38673433 PMC: 11050362. DOI: 10.3390/jcm13082160.

Embryo drop-out rates in preimplantation genetic testing for aneuploidy (PGT-A): a retrospective data analysis from the DoLoRes study.

Wirleitner B, Hruba M, Schuff M, Hradecky L, Stecher A, Damko A J Assist Reprod Genet. 2023; 41(1):193-203.

PMID: 37878220 PMC: 10789689. DOI: 10.1007/s10815-023-02976-9.

A review of the 2021/2022 PGDIS Position Statement on the transfer of mosaic embryos.

Gleicher N, Mochizuki L, Barad D, Patrizio P, Orvieto R J Assist Reprod Genet. 2023; 40(4):817-826.

PMID: 36892704 PMC: 10224891. DOI: 10.1007/s10815-023-02763-6.

References

Somigliana E, Busnelli A, Paffoni A, Vigano P, Riccaboni A, Rubio C . Cost-effectiveness of preimplantation genetic testing for aneuploidies. Fertil Steril. 2019; 111(6):1169-1176. DOI: 10.1016/j.fertnstert.2019.01.025. View

Murugappan G, Ohno M, Lathi R . Cost-effectiveness analysis of preimplantation genetic screening and in vitro fertilization versus expectant management in patients with unexplained recurrent pregnancy loss. Fertil Steril. 2015; 103(5):1215-20. DOI: 10.1016/j.fertnstert.2015.02.012. View

Robinson R, Rippentrop S, McLaughlin J . What are the cost considerations for preimplantation genetic testing for aneuploidy?. Fertil Steril. 2019; 111(6):1115-1116. DOI: 10.1016/j.fertnstert.2019.02.022. View

Mochizuki L, Gleicher N . The PGS/PGT-A controversy in IVF addressed as a formal conflict resolution analysis. J Assist Reprod Genet. 2020; 37(3):677-687. PMC: 7125270. DOI: 10.1007/s10815-020-01688-8. View

Bolton H, Graham S, VAN DER Aa N, Kumar P, Theunis K, Fernandez Gallardo E . Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal developmental potential. Nat Commun. 2016; 7:11165. PMC: 4820631. DOI: 10.1038/ncomms11165. View

McCoy R, Demko Z, Ryan A, Banjevic M, Hill M, Sigurjonsson S . Common variants spanning PLK4 are associated with mitotic-origin aneuploidy in human embryos. Science. 2015; 348(6231):235-8. PMC: 5519344. DOI: 10.1126/science.aaa3337. View

Cornelisse S, Zagers M, Kostova E, Fleischer K, van Wely M, Mastenbroek S . Preimplantation genetic testing for aneuploidies (abnormal number of chromosomes) in in vitro fertilisation. Cochrane Database Syst Rev. 2020; 9:CD005291. PMC: 8094272. DOI: 10.1002/14651858.CD005291.pub3. View

Ata B, Popovic M, Fatemi H . Correct assessment and interpretation of results determines the accuracy of any diagnostic test, and PGT-A is no exception. Hum Reprod. 2022; 37(9):2214-2216. DOI: 10.1093/humrep/deac150. View

Leigh D, Cram D, Rechitsky S, Handyside A, Wells D, Munne S . PGDIS position statement on the transfer of mosaic embryos 2021. Reprod Biomed Online. 2022; 45(1):19-25. DOI: 10.1016/j.rbmo.2022.03.013. View

10.

Shahbazi M, Wang T, Tao X, Weatherbee B, Sun L, Zhan Y . Developmental potential of aneuploid human embryos cultured beyond implantation. Nat Commun. 2020; 11(1):3987. PMC: 7418029. DOI: 10.1038/s41467-020-17764-7. View

11.

Kermi C, Aze A, Maiorano D . Preserving Genome Integrity During the Early Embryonic DNA Replication Cycles. Genes (Basel). 2019; 10(5). PMC: 6563053. DOI: 10.3390/genes10050398. View

12.

Gleicher N, Albertini D, Barad D, Homer H, Modi D, Murtinger M . The 2019 PGDIS position statement on transfer of mosaic embryos within a context of new information on PGT-A. Reprod Biol Endocrinol. 2020; 18(1):57. PMC: 7257212. DOI: 10.1186/s12958-020-00616-w. View

13.

Munne S . Status of preimplantation genetic testing and embryo selection. Reprod Biomed Online. 2018; 37(4):393-396. DOI: 10.1016/j.rbmo.2018.08.001. View

14.

Verlinsky Y, Cieslak J, Freidine M, Ivakhnenko V, Wolf G, Kovalinskaya L . Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescent in-situ hybridization. Hum Reprod. 1995; 10(7):1923-7. DOI: 10.1093/oxfordjournals.humrep.a136207. View

15.

. The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion. Fertil Steril. 2018; 109(3):429-436. DOI: 10.1016/j.fertnstert.2018.01.002. View

16.

Schrurs B, Winston R, Handyside A . Preimplantation diagnosis of aneuploidy using fluorescent in-situ hybridization: evaluation using a chromosome 18-specific probe. Hum Reprod. 1993; 8(2):296-301. DOI: 10.1093/oxfordjournals.humrep.a138040. View

17.

Franasiak J, Forman E, Hong K, Werner M, Upham K, Treff N . The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril. 2013; 101(3):656-663.e1. DOI: 10.1016/j.fertnstert.2013.11.004. View

18.

Gleicher N, Barad D, Ben-Rafael Z, Glujovsky D, Mochizuki L, Modi D . Commentary on two recently published formal guidelines on management of "mosaic" embryos after preimplantation genetic testing for aneuploidy (PGT-A). Reprod Biol Endocrinol. 2021; 19(1):23. PMC: 7890905. DOI: 10.1186/s12958-021-00716-1. View

19.

McCoy R . Mosaicism in Preimplantation Human Embryos: When Chromosomal Abnormalities Are the Norm. Trends Genet. 2017; 33(7):448-463. PMC: 5484399. DOI: 10.1016/j.tig.2017.04.001. View

20.

Tocci A . Hypothesis: human trophectoderm biopsy downregulates the expression of the placental growth factor gene. J Assist Reprod Genet. 2021; 38(10):2575-2578. PMC: 8581080. DOI: 10.1007/s10815-021-02283-1. View