Informacja

Drogi użytkowniku, aplikacja do prawidłowego działania wymaga obsługi JavaScript. Proszę włącz obsługę JavaScript w Twojej przeglądarce.

Tytuł pozycji:

To mask or not to mask mosaicism? The impact of reporting embryo mosaicism on reproductive potential.

Tytuł:
To mask or not to mask mosaicism? The impact of reporting embryo mosaicism on reproductive potential.
Autorzy:
Armstrong A; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, UCLA, 200 Medical Plaza Driveway Suite 220, CA, 90095, Los Angeles, USA. .
Miller J; CooperSurgical, 3 Regent St, Livingston, NJ, 07039, USA.
Quinn M; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, Keck School of Medicine at University of Southern California, 2020 Zonal Avenue, IRD 534, CA, 90033, Los Angeles, USA.
Nguyen AV; Department of Urology, UCLA, 200 Medical Plaza Driveway Suite 140, CA, 90095, Los Angeles, USA.
Kwan L; Department of Urology, UCLA, 200 Medical Plaza Driveway Suite 140, CA, 90095, Los Angeles, USA.
Kroener L; Division of Reproductive Endocrinology and Infertility, Department of Obstetrics and Gynecology, UCLA, 200 Medical Plaza Driveway Suite 220, CA, 90095, Los Angeles, USA.
Źródło:
Journal of assisted reproduction and genetics [J Assist Reprod Genet] 2022 Sep; Vol. 39 (9), pp. 2035-2042. Date of Electronic Publication: 2022 Jul 20.
Typ publikacji:
Journal Article
Język:
English
Imprint Name(s):
Publication: <2004- >: Amsterdam : Springer
Original Publication: New York : Plenum Press, c1992-
MeSH Terms:
Mosaicism*
Preimplantation Diagnosis*
Adolescent ; Adult ; Aneuploidy ; Blastocyst/pathology ; Female ; Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Live Birth ; Middle Aged ; Pregnancy ; Young Adult
References:
Martín J, Cervero A, Mir P, Conejero Martinez JA, Pellicer A, Simón C. The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening. Fertil Steril. 2013;99(4):1054-1061.e3. https://doi.org/10.1016/j.fertnstert.2013.02.001 . (PMID: 10.1016/j.fertnstert.2013.02.00123499002)
Roche K, Racowsky C, Harper J. Utilization of preimplantation genetic testing in the USA. J Assist Reprod Genet. 2021;38:1045–53. https://doi.org/10.1007/s10815-021-02078-4 . (PMID: 10.1007/s10815-021-02078-4339040098190209)
Munné S, Kaplan B, Frattarelli JL, Child T, Nakhuda G, Shamma FN, Silverberg K, Kalista T, Handyside AH, Katz-Jaffe M, Wells D, Gordon T, Stock-Myer S, Willman S, Acacio B, Lavery S, Carby A, Boostanfar R, Forman R, … Alfarawati S. 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(6):1071–1079.e7. https://doi.org/10.1016/j.fertnstert.2019.07.1346.
Maxwell SM, Colls P, Hodes-Wertz B, McCulloh DH, McCaffrey C, Wells D, Munné S, Grifo JA. Why do euploid embryos miscarry? A case-control study comparing the rate of aneuploidy within presumed euploid embryos that resulted in miscarriage or live birth using next-generation sequencing. Fertil Steril. 2016;106(6):1414-1419.e5. https://doi.org/10.1016/j.fertnstert.2016.08.017 . (PMID: 10.1016/j.fertnstert.2016.08.01727692437)
Munné S, Wells D. Detection of mosaicism at blastocyst stage with the use of high-resolution next-generation sequencing. Fertil Steril. 2017;107(5):1085–91. https://doi.org/10.1016/j.fertnstert.2017.03.024 . (PMID: 10.1016/j.fertnstert.2017.03.02428390692)
Taylor TH, Gitlin SA, Patrick JL, Crain JL, Wilson JM, Griffin DK. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update. 2014;20(4):571–81. https://doi.org/10.1093/humupd/dmu016 . (PMID: 10.1093/humupd/dmu01624667481)
Reich J, Blakemore JK, Besser AG, Hodes-Wertz B, Grifo JA. The effect of maternal age on chromosomal mosaicism: an analysis by chromosome type and mosaic result. Fertil Steril. 2020;114(3):e419–20. https://doi.org/10.1016/j.fertnstert.2020.08.1221 . (PMID: 10.1016/j.fertnstert.2020.08.12217548645)
Coll L, Parriego M, Mateo S, García-Monclús S, Rodríguez I, Boada M, Coroleu B, Polyzos NP, Vidal F, Veiga A. Prevalence, types and possible factors influencing mosaicism in IVF blastocysts: results from a single setting. Reprod Biomed Online. 2021;42(1):55–65. https://doi.org/10.1016/j.rbmo.2020.09.025 . (PMID: 10.1016/j.rbmo.2020.09.02533153932)
Osman EK, Werner MD. Mosaic embryos present a challenging clinical decision. Fertil Steril. 2019;111(1):52–3. https://doi.org/10.1016/j.fertnstert.2018.10.032 . (PMID: 10.1016/j.fertnstert.2018.10.03230611416)
Viotti M, Victor A, Barnes F, Zouves C, Besser AG, Grifo JA, Cheng E-H, Lee M-S, Lin P-Y, Corti L, Fiorentino F, Spinella F, Minasi MG, Greco E, Munné S. New insights from one thousand mosaic embryo transfers: features of mosaicism dictating rates of implantation, spontaneous abortion, and neonate health. Fertil Steril. 2020;114(3):e1–2. https://doi.org/10.1016/j.fertnstert.2020.08.029 . (PMID: 10.1016/j.fertnstert.2020.08.029)
Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, et al. Mosaic human preimplantation embryoys and their developmental potential in a prospective, non-selection clinical trial. Am J Hum Genet. 2021;108:2238–47. (PMID: 10.1016/j.ajhg.2021.11.002)
Capalbo A, Ubaldi FM, Rienzi L, Scott R, Treff N. Detecting mosaicism in trophectoderm biopsies: current challenges and future possibilities. Hum Reprod. 2017;32(3):492–8. (PMID: 27738115)
Victor AR, Tyndall JC, Brake AJ, Lepkowsky LT, Murphy AE, Griffin DK, McCoy RC, Barnes FL, Zouves CG, Viotti M. One hundred mosaic embryos transferred prospectively in a single clinic: exploring when and why they result in healthy pregnancies. Fertil Steril. 2019;111(2):280–93. https://doi.org/10.1016/j.fertnstert.2018.10.019 . (PMID: 10.1016/j.fertnstert.2018.10.01930691630)
Kahraman S, Cetinkaya M, Yuksel B, Yesil M, PirketiCetinkaya C. The birth of a baby with mosaicism resulting from a known mosaic embryo transfer: a case report. Hum Reprod. 2020;35(3):727–33. (PMID: 10.1093/humrep/dez309)
Barad DH, Albertini DF, Molinari E, Gleicher N. IVF outcomes of embryos with abnormal PGT-A biopsy previously refused transfer: a prospective cohort study. Hum Reprod. 2022:deac063. https://doi.org/10.1093/humrep/deac063.
Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts: a committee opinion. In: Fertility and Sterility (Vol. 114, Issue 2). Elsevier BV; 2020. pp. 246–254. https://doi.org/10.1016/j.fertnstert.2020.05.014.
Kim TG, Neblett MF, Shandley LM, Omurtag K, Hipp HS, Kawwass JF. National mosaic embryo transfer practices: a survey. Am J Obstet Gynecol. 2018;219(6):602.e1-602.e7. https://doi.org/10.1016/j.ajog.2018.09.030 . (PMID: 10.1016/j.ajog.2018.09.030)
Munne S, Large M, Ribustello L, Blazek J, Gouw F, Grifo J, Haddad G, Chang W, Grunert GM, Huang A, Yelian F, Hughes M. PGS analysis of over 33,000 blastocysts using high resolution Next Generation Sequencing (HRNGS) of over 33,000 blastocysts using high resolution Next Generation Sequencing (HRNGS). Fertil Steril. 2016;106(3):e18–9. https://doi.org/10.1016/j.fertnstert.2016.07.063 . (PMID: 10.1016/j.fertnstert.2016.07.063)
Monahan D, Harton G, Griffin D, Angle M, Smikle C. 2. Clinical comparison of two PGT-A platforms utilizing different thresholds to determine ploidy status. In Reproductive BioMedicine Online (Vol. 39). Elsevier BV; 2019. pp. e27–e28. https://doi.org/10.1016/j.rbmo.2019.04.055.
Paulson RJ, Treff NR. Isn’t it time to stop calling preimplantation embryos “mosaic”? In F&S Reports (Vol. 1, Issue 3). Elsevier BV; 2020. pp. 164–165. https://doi.org/10.1016/j.xfre.2020.10.009.
Kim J, Tao X, Cheng M, Steward A, Guo V, Zhan Y, Jr. Scott RT, Jalas, C. The concordance rates of an initial trophectoderm biopsy with the rest of the embryo using PGTseq, a targeted next-generation sequencing platform for preimplantation genetic testing-aneuploidy. In Fertility and Sterility (Vol. 117, Issue 2). Elsevier BV; 2022. pp. 315–323. https://doi.org/10.1016/j.fertnstert.2021.10.011.
PGDIS Position Statement on the Transfer of Mosaic Embryos. PGDIS Policy Position. 2021. https://pgdis.org/pgd_position.html . Accessed 23 May  2022.
Contributed Indexing:
Keywords: Embryos for transfer; Mosaic rates; Reporting mosaicism
Entry Date(s):
Date Created: 20220720 Date Completed: 20220916 Latest Revision: 20230902
Update Code:
20240105
PubMed Central ID:
PMC9474961
DOI:
10.1007/s10815-022-02576-z
PMID:
35857256
Czasopismo naukowe
Purpose: To evaluate euploidy rates and probability of having at least one euploid embryo for transfer per cycle when mosaicism is reported compared to when it is masked.
Methods: Women age 18-46 years who underwent PGT-A with next generation sequencing of blastocyst biopsies were analyzed. When reported, mosaic embryos were classified as low-level, 20-40% mosaic, or high-level, 41-80% mosaic. When masked, low-level mosaics were categorized as euploid and high-level mosaics were considered aneuploid. Comparative analyses were performed with χ 2 tests and t-tests.
Results: A total of 22,504 PGT-A biopsy cycles from 18,401 patients were included. These cycles were from 293 different clinics with a mean of 1.22 cycles per patient. The majority of cycles (94.8%) reported mosaicism, and only 5.2% cycles were masked. The euploidy rate was significantly lower when mosaicism was reported versus masked (38.7% v 47.4%, p < 0.0001), which remained significant for age 40 years old and younger. The mosaic reporting cohort was less likely to have at least one euploid embryo for transfer (68.8%) compared to the masked cohort (75.7%) (p < 0.0001); however, this was no longer significant after stratification by age.
Conclusion: Mosaicism reporting shows an overall expected reduction in euploidy rate. In turn, the probability of having a euploid embryo to transfer depends on clinic transfer practices and patient preference. If mosaic embryos are not transferred, we observe a reduction in probability of having an embryo for transfer. Although the magnitude of these differences is small, our data show that mosaic reporting may contribute to embryo attrition rate.
(© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Ta witryna wykorzystuje pliki cookies do przechowywania informacji na Twoim komputerze. Pliki cookies stosujemy w celu świadczenia usług na najwyższym poziomie, w tym w sposób dostosowany do indywidualnych potrzeb. Korzystanie z witryny bez zmiany ustawień dotyczących cookies oznacza, że będą one zamieszczane w Twoim komputerze. W każdym momencie możesz dokonać zmiany ustawień dotyczących cookies