A Mini-Review Regarding the Clinical Outcomes of In Vitro Fertilization (IVF) Following Pre-Implantation Genetic Testing (PGT)-Next Generation Sequencing (NGS) Approach

Overview

Journal Diagnostics (Basel)

Specialty Radiology

Date 2022 Aug 26

PMID 36010262

Authors

Bogdan Doroftei

Ovidiu-Dumitru Ilie

Nicoleta Anton

Theodora Armeanu

Ciprian Ilea

Affiliations

Soon will be listed here.

Abstract

Background: PGT-based NGS revolutionized the field of reproductive medicine, becoming an integrated component within current assisted reproductive technology (ART) protocols.

Methods: We searched the literature published in the last half a decade in four databases (PubMed/Medline, ISI Web of Knowledge, ScienceDirect, and Scopus) between 2018 and 2022.

Results: A total of 1388 articles were filtered, from which 60 met, initially, the eligibility criteria, but only 42 were included (≥100 patients/couples-62,465 patients and 6628 couples in total) in the present mini-review. In total, forty-two (70.0%) reported reproductive outcomes, while eighteen (30.0%) had distinct objectives. Furthermore, = 1, 1.66% of the studies focused on PGT, = 1, 1.66% on pre-implantation genetic testing for monogenic disorders (PGT-M), = 3, 5.0% on pre-implantation genetic testing for structural rearrangements (PGT-SR) and = 55, 91.66% on pre-implantation genetic testing for aneuploidies (PGT-A).

Conclusions: PGT using NGS proved to be an excellent companion that folds within the current ascending tendency among couples that require specialty care. We strongly encourage future studies to provide a systematic overview expanded at a larger scale on the role of the PGT-NGS.

Citing Articles

Genetic counseling for pre-implantation genetic testing of monogenic disorders (PGT-M).

Parikh F, Athalye A, Madon P, Khandeparkar M, Naik D, Sanap R Front Reprod Health. 2024; 5:1213546.

PMID: 38162012 PMC: 10755023. DOI: 10.3389/frph.2023.1213546.

Preimplantation Genetic Testing for Genetic Diseases: Limits and Review of Current Literature.

Giuliano R, Maione A, Vallefuoco A, Sorrentino U, Zuccarello D Genes (Basel). 2023; 14(11).

PMID: 38003038 PMC: 10671162. DOI: 10.3390/genes14112095.

Chronic kidney disease, female infertility, and medically assisted reproduction: a best practice position statement by the Kidney and Pregnancy Group of the Italian Society of Nephrology.

Attini R, Cabiddu G, Ciabatti F, Montersino B, Carosso A, Gernone G J Nephrol. 2023; 36(5):1239-1255.

PMID: 37354277 PMC: 11081994. DOI: 10.1007/s40620-023-01670-4.

References

Simon A, Kiehl M, Fischer E, Proctor J, Bush M, Givens C . Pregnancy outcomes from more than 1,800 in vitro fertilization cycles with the use of 24-chromosome single-nucleotide polymorphism-based preimplantation genetic testing for aneuploidy. Fertil Steril. 2018; 110(1):113-121. DOI: 10.1016/j.fertnstert.2018.03.026. View

Yuan P, Zheng L, Ou S, Zhao H, Li R, Luo H . Evaluation of chromosomal abnormalities from preimplantation genetic testing to the reproductive outcomes: a comparison between three different structural rearrangements based on next-generation sequencing. J Assist Reprod Genet. 2021; 38(3):709-718. PMC: 7910334. DOI: 10.1007/s10815-020-02053-5. View

Wang A, Kort J, Westphal L . Miscarriage history association with euploid embryo transfer outcomes. Reprod Biomed Online. 2019; 39(4):617-623. DOI: 10.1016/j.rbmo.2019.05.011. View

Gazzo E, Pena F, Valdez F, Chung A, Velit M, Ascenzo M . Blastocyst contractions are strongly related with aneuploidy, lower implantation rates, and slow-cleaving embryos: a time lapse study. JBRA Assist Reprod. 2019; 24(1):77-81. PMC: 6993166. DOI: 10.5935/1518-0557.20190053. View

Riestenberg C, Kroener L, Quinn M, Ching K, Ambartsumyan G . Routine endometrial receptivity array in first embryo transfer cycles does not improve live birth rate. Fertil Steril. 2021; 115(4):1001-1006. DOI: 10.1016/j.fertnstert.2020.09.140. View

Macklon N, Geraedts J, Fauser B . Conception to ongoing pregnancy: the 'black box' of early pregnancy loss. Hum Reprod Update. 2002; 8(4):333-43. DOI: 10.1093/humupd/8.4.333. View

Dviri M, Madjunkova S, Koziarz A, Antes R, Abramov R, Mashiach J . Is there a correlation between paternal age and aneuploidy rate? An analysis of 3,118 embryos derived from young egg donors. Fertil Steril. 2020; 114(2):293-300. DOI: 10.1016/j.fertnstert.2020.03.034. View

Rubio C, Navarro-Sanchez L, Garcia-Pascual C, Ocali O, Cimadomo D, Venier W . Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1301 human blastocysts. Am J Obstet Gynecol. 2020; 223(5):751.e1-751.e13. DOI: 10.1016/j.ajog.2020.04.035. View

Lledo B, Ortiz J, Morales R, Garcia-Hernandez E, Ten J, Bernabeu A . Comprehensive mitochondrial DNA analysis and IVF outcome. Hum Reprod Open. 2019; 2018(4):hoy023. PMC: 6396640. DOI: 10.1093/hropen/hoy023. View

10.

He H, Jing S, Lu C, Tan Y, Luo K, Zhang S . Neonatal outcomes of live births after blastocyst biopsy in preimplantation genetic testing cycles: a follow-up of 1,721 children. Fertil Steril. 2019; 112(1):82-88. DOI: 10.1016/j.fertnstert.2019.03.006. View

11.

Niu W, Wang L, Xu J, Li Y, Shi H, Li G . Improved clinical outcomes of preimplantation genetic testing for aneuploidy using MALBAC-NGS compared with MDA-SNP array. BMC Pregnancy Childbirth. 2020; 20(1):388. PMC: 7333433. DOI: 10.1186/s12884-020-03082-9. View

12.

Zhou S, Cheng D, Ouyang Q, Xie P, Lu C, Gong F . Prevalence and authenticity of de-novo segmental aneuploidy (>16 Mb) in human blastocysts as detected by next-generation sequencing. Reprod Biomed Online. 2018; 37(5):511-520. DOI: 10.1016/j.rbmo.2018.08.006. View

13.

Cascales A, Lledo B, Ortiz J, Morales R, Ten J, Llacer J . Effect of ovarian stimulation on embryo aneuploidy and mosaicism rate. Syst Biol Reprod Med. 2021; 67(1):42-49. DOI: 10.1080/19396368.2020.1850908. View

14.

de Los Santos M, Diez Juan A, Mifsud A, Mercader A, Meseguer M, Rubio C . Variables associated with mitochondrial copy number in human blastocysts: what can we learn from trophectoderm biopsies?. Fertil Steril. 2018; 109(1):110-117. DOI: 10.1016/j.fertnstert.2017.09.022. View

15.

Di Resta C, Galbiati S, Carrera P, Ferrari M . Next-generation sequencing approach for the diagnosis of human diseases: open challenges and new opportunities. EJIFCC. 2018; 29(1):4-14. PMC: 5949614. View

16.

Hou W, Xu Y, Li R, Song J, Wang J, Zeng Y . Role of aneuploidy screening in preimplantation genetic testing for monogenic diseases in young women. Fertil Steril. 2019; 111(5):928-935. DOI: 10.1016/j.fertnstert.2019.01.017. View

17.

Handyside A, Kontogianni E, Hardy K, Winston R . Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature. 1990; 344(6268):768-70. DOI: 10.1038/344768a0. View

18.

Gorodeckaja J, Neumann S, McCollin A, Ottolini C, Wang J, Ahuja K . High implantation and clinical pregnancy rates with single vitrified-warmed blastocyst transfer and optional aneuploidy testing for all patients. Hum Fertil (Camb). 2019; 23(4):256-267. DOI: 10.1080/14647273.2018.1551628. View

19.

Karlikaya G, Boynukalin F, Gultomruk M, Kavrut M, Abali R, Demir B . Euploidy rates of embryos in young patients with good and low prognosis according to the POSEIDON criteria. Reprod Biomed Online. 2021; 42(4):733-741. DOI: 10.1016/j.rbmo.2021.01.001. View

20.

Vinals Gonzalez X, Odia R, Naja R, Serhal P, Saab W, Seshadri S . Euploid blastocysts implant irrespective of their morphology after NGS-(PGT-A) testing in advanced maternal age patients. J Assist Reprod Genet. 2019; 36(8):1623-1629. PMC: 6707991. DOI: 10.1007/s10815-019-01496-9. View