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Abnormal preimplantation embryonic development

MedGen UID:
1786809
•Concept ID:
C5539523
•
Congenital Abnormality
HPO: HP:0033335

Definition

An anomaly in the development of the embryo in a stage prior to implantation. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbnormal preimplantation embryonic development

Conditions with this feature

Oocyte maturation defect 12
MedGen UID:
1794273
•Concept ID:
C5562063
•
Disease or Syndrome
Oocyte/zygote/embryo maturation arrest-12 (OZEMA12) is characterized by female infertility due to early embryonic arrest (Wang et al., 2021). Mutation in the FBXO43 gene can also cause male infertility due to spermatogenic failure (see SPGF64, 619696). For a general phenotypic description and discussion of genetic heterogeneity of OZEMA, see 615774.
See: Condition Record
Oocyte maturation defect 12

Professional guidelines

PubMed

Preimplantation genetic testing in the current era, a review.
Tian Y, Li M, Yang J, Chen H, Lu D
Arch Gynecol Obstet 2024 May;309(5):1787-1799. Epub 2024 Feb 20 doi: 10.1007/s00404-024-07370-z. PMID: 38376520
Non-invasive preimplantation genetic testing (niPGT): the next revolution in reproductive genetics?
Leaver M, Wells D
Hum Reprod Update 2020 Jan 1;26(1):16-42. doi: 10.1093/humupd/dmz033. PMID: 31774124
Preimplantation genetic screening.
Harper JC
J Med Screen 2018 Mar;25(1):1-5. Epub 2017 Jun 14 doi: 10.1177/0969141317691797. PMID: 28614992

Recent clinical studies

Etiology

Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.
Cimadomo D, Rienzi L, Conforti A, Forman E, Canosa S, Innocenti F, Poli M, Hynes J, Gemmell L, Vaiarelli A, Alviggi C, Ubaldi FM, Capalbo A
Hum Reprod Update 2023 Sep 5;29(5):570-633. doi: 10.1093/humupd/dmad010. PMID: 37192834
Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use.
Viotti M, Victor AR, Barnes FL, Zouves CG, Besser AG, Grifo JA, Cheng EH, Lee MS, Horcajadas JA, Corti L, Fiorentino F, Spinella F, Minasi MG, Greco E, Munné S
Fertil Steril 2021 May;115(5):1212-1224. Epub 2021 Mar 6 doi: 10.1016/j.fertnstert.2020.11.041. PMID: 33685629
Non-invasive preimplantation genetic testing (niPGT): the next revolution in reproductive genetics?
Leaver M, Wells D
Hum Reprod Update 2020 Jan 1;26(1):16-42. doi: 10.1093/humupd/dmz033. PMID: 31774124
Preimplantation genetic screening.
Harper JC
J Med Screen 2018 Mar;25(1):1-5. Epub 2017 Jun 14 doi: 10.1177/0969141317691797. PMID: 28614992
Hereditary Renal Diseases.
Mehta L, Jim B
Semin Nephrol 2017 Jul;37(4):354-361. doi: 10.1016/j.semnephrol.2017.05.007. PMID: 28711074

Diagnosis

Preimplantation genetic testing in the current era, a review.
Tian Y, Li M, Yang J, Chen H, Lu D
Arch Gynecol Obstet 2024 May;309(5):1787-1799. Epub 2024 Feb 20 doi: 10.1007/s00404-024-07370-z. PMID: 38376520
Embryo Genetics.
Rubio C, Simón C
Genes (Basel) 2021 Jan 19;12(1) doi: 10.3390/genes12010118. PMID: 33477974Free PMC Article
Non-invasive preimplantation genetic testing (niPGT): the next revolution in reproductive genetics?
Leaver M, Wells D
Hum Reprod Update 2020 Jan 1;26(1):16-42. doi: 10.1093/humupd/dmz033. PMID: 31774124
Genetics of human female infertility†.
Yatsenko SA, Rajkovic A
Biol Reprod 2019 Sep 1;101(3):549-566. doi: 10.1093/biolre/ioz084. PMID: 31077289Free PMC Article
Hereditary Renal Diseases.
Mehta L, Jim B
Semin Nephrol 2017 Jul;37(4):354-361. doi: 10.1016/j.semnephrol.2017.05.007. PMID: 28711074

Therapy

Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.
Cimadomo D, Rienzi L, Conforti A, Forman E, Canosa S, Innocenti F, Poli M, Hynes J, Gemmell L, Vaiarelli A, Alviggi C, Ubaldi FM, Capalbo A
Hum Reprod Update 2023 Sep 5;29(5):570-633. doi: 10.1093/humupd/dmad010. PMID: 37192834
IVF outcomes of embryos with abnormal PGT-A biopsy previously refused transfer: a prospective cohort study.
Barad DH, Albertini DF, Molinari E, Gleicher N
Hum Reprod 2022 May 30;37(6):1194-1206. doi: 10.1093/humrep/deac063. PMID: 35413106
Preimplantation genetic screening.
Harper JC
J Med Screen 2018 Mar;25(1):1-5. Epub 2017 Jun 14 doi: 10.1177/0969141317691797. PMID: 28614992
Mitochondrial DNA quantity as a biomarker for blastocyst implantation potential.
Wells D
Fertil Steril 2017 Nov;108(5):742-747. doi: 10.1016/j.fertnstert.2017.10.007. PMID: 29101999
Preimplantation genetic testing.
Audibert F, Wilson RD, Allen V, Blight C, Brock JA, Désilets VA, Gagnon A, Johnson JA, Langlois S, Wyatt P; Genetics Committee
J Obstet Gynaecol Can 2009 Aug;31(8):761-75. doi: 10.1016/s1701-2163(16)34284-0. PMID: 19772712

Prognosis

Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts.
Chavli EA, Klaasen SJ, Van Opstal D, Laven JS, Kops GJ, Baart EB
J Clin Invest 2024 Jan 4;134(6) doi: 10.1172/JCI174483. PMID: 38175717Free PMC Article
Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.
Cimadomo D, Rienzi L, Conforti A, Forman E, Canosa S, Innocenti F, Poli M, Hynes J, Gemmell L, Vaiarelli A, Alviggi C, Ubaldi FM, Capalbo A
Hum Reprod Update 2023 Sep 5;29(5):570-633. doi: 10.1093/humupd/dmad010. PMID: 37192834
Using outcome data from one thousand mosaic embryo transfers to formulate an embryo ranking system for clinical use.
Viotti M, Victor AR, Barnes FL, Zouves CG, Besser AG, Grifo JA, Cheng EH, Lee MS, Horcajadas JA, Corti L, Fiorentino F, Spinella F, Minasi MG, Greco E, Munné S
Fertil Steril 2021 May;115(5):1212-1224. Epub 2021 Mar 6 doi: 10.1016/j.fertnstert.2020.11.041. PMID: 33685629
Artificial intelligence in human in vitro fertilization and embryology.
Zaninovic N, Rosenwaks Z
Fertil Steril 2020 Nov;114(5):914-920. doi: 10.1016/j.fertnstert.2020.09.157. PMID: 33160513
Recurrent miscarriage.
Horne AW, Alexander CI
J Fam Plann Reprod Health Care 2005 Apr;31(2):103-7. doi: 10.1783/1471189053629428. PMID: 15921544

Clinical prediction guides

Single-cell DNA sequencing reveals a high incidence of chromosomal abnormalities in human blastocysts.
Chavli EA, Klaasen SJ, Van Opstal D, Laven JS, Kops GJ, Baart EB
J Clin Invest 2024 Jan 4;134(6) doi: 10.1172/JCI174483. PMID: 38175717Free PMC Article
Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.
Cimadomo D, Rienzi L, Conforti A, Forman E, Canosa S, Innocenti F, Poli M, Hynes J, Gemmell L, Vaiarelli A, Alviggi C, Ubaldi FM, Capalbo A
Hum Reprod Update 2023 Sep 5;29(5):570-633. doi: 10.1093/humupd/dmad010. PMID: 37192834
Development of an artificial intelligence model for predicting the likelihood of human embryo euploidy based on blastocyst images from multiple imaging systems during IVF.
Diakiw SM, Hall JMM, VerMilyea MD, Amin J, Aizpurua J, Giardini L, Briones YG, Lim AYX, Dakka MA, Nguyen TV, Perugini D, Perugini M
Hum Reprod 2022 Jul 30;37(8):1746-1759. doi: 10.1093/humrep/deac131. PMID: 35674312Free PMC Article
Artificial intelligence in human in vitro fertilization and embryology.
Zaninovic N, Rosenwaks Z
Fertil Steril 2020 Nov;114(5):914-920. doi: 10.1016/j.fertnstert.2020.09.157. PMID: 33160513
Preimplantation genetic testing.
Audibert F, Wilson RD, Allen V, Blight C, Brock JA, Désilets VA, Gagnon A, Johnson JA, Langlois S, Wyatt P; Genetics Committee
J Obstet Gynaecol Can 2009 Aug;31(8):761-75. doi: 10.1016/s1701-2163(16)34284-0. PMID: 19772712

Recent systematic reviews

Opening the black box: why do euploid blastocysts fail to implant? A systematic review and meta-analysis.
Cimadomo D, Rienzi L, Conforti A, Forman E, Canosa S, Innocenti F, Poli M, Hynes J, Gemmell L, Vaiarelli A, Alviggi C, Ubaldi FM, Capalbo A
Hum Reprod Update 2023 Sep 5;29(5):570-633. doi: 10.1093/humupd/dmad010. PMID: 37192834
Morphological and morphokinetic associations with aneuploidy: a systematic review and meta-analysis.
Bamford T, Barrie A, Montgomery S, Dhillon-Smith R, Campbell A, Easter C, Coomarasamy A
Hum Reprod Update 2022 Aug 25;28(5):656-686. doi: 10.1093/humupd/dmac022. PMID: 35613016
Molecular Drivers of Developmental Arrest in the Human Preimplantation Embryo: A Systematic Review and Critical Analysis Leading to Mapping Future Research.
Sfakianoudis K, Maziotis E, Karantzali E, Kokkini G, Grigoriadis S, Pantou A, Giannelou P, Petroutsou K, Markomichali C, Fakiridou M, Koutsilieris M, Asimakopoulos B, Pantos K, Simopoulou M
Int J Mol Sci 2021 Aug 3;22(15) doi: 10.3390/ijms22158353. PMID: 34361119Free PMC Article
Low oxygen concentrations for embryo culture in assisted reproductive technologies.
Bontekoe S, Mantikou E, van Wely M, Seshadri S, Repping S, Mastenbroek S
Cochrane Database Syst Rev 2012 Jul 11;(7):CD008950. doi: 10.1002/14651858.CD008950.pub2. PMID: 22786519
Chromosomal mosaicism in human preimplantation embryos: a systematic review.
van Echten-Arends J, Mastenbroek S, Sikkema-Raddatz B, Korevaar JC, Heineman MJ, van der Veen F, Repping S
Hum Reprod Update 2011 Sep-Oct;17(5):620-7. Epub 2011 Apr 29 doi: 10.1093/humupd/dmr014. PMID: 21531753

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