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Preimplantation lethality

MedGen UID:
1689832
•Concept ID:
C5139371
•
Finding
Synonym: Preimplantation embryonic lethality
 
HPO: HP:0032479

Definition

It is estimated that about 40-70 percent of human embryos produced in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) are viable embryos, whereas others arrest at different early stages of development. The phenotype of preimplantation lethality is inferred if IVF and ICSI cycles fail because all of an individual's embryos are arrested at early stages of development. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPreimplantation lethality

Conditions with this feature

Preimplantation embryonic lethality 2
MedGen UID:
934626
•Concept ID:
C4310659
•
Disease or Syndrome
See: Condition Record
Preimplantation embryonic lethality 2

Professional guidelines

PubMed

A review on the motivations, decision-making factors, attitudes and experiences of couples using pre-implantation genetic testing for inherited conditions.
Hughes T, Bracewell-Milnes T, Saso S, Jones BP, Almeida PA, Maclaren K, Norman-Taylor J, Johnson M, Nikolaou D
Hum Reprod Update 2021 Aug 20;27(5):944-966. doi: 10.1093/humupd/dmab013. PMID: 33969393
The experience of Preimplantation Genetic Testing (PGT) among Muslim couples in Oman in the Middle East.
Al-Kharusi K, Bruwer Z, Wessels TM
J Genet Couns 2021 Feb;30(1):121-131. Epub 2020 Jun 23 doi: 10.1002/jgc4.1300. PMID: 32578356
Embryo aneuploidy and the role of morphological and genetic screening.
Wells D
Reprod Biomed Online 2010 Sep;21(3):274-7. Epub 2010 Jun 30 doi: 10.1016/j.rbmo.2010.06.035. PMID: 20688567

Recent clinical studies

Etiology

Knockdown of XAB2 enhances all-trans retinoic acid-induced cellular differentiation in all-trans retinoic acid-sensitive and -resistant cancer cells.
Ohnuma-Ishikawa K, Morio T, Yamada T, Sugawara Y, Ono M, Nagasawa M, Yasuda A, Morimoto C, Ohnuma K, Dang NH, Hosoi H, Verdin E, Mizutani S
Cancer Res 2007 Feb 1;67(3):1019-29. doi: 10.1158/0008-5472.CAN-06-1638. PMID: 17283134
Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality.
de Boer J, Donker I, de Wit J, Hoeijmakers JH, Weeda G
Cancer Res 1998 Jan 1;58(1):89-94. PMID: 9426063

Diagnosis

Knockdown of XAB2 enhances all-trans retinoic acid-induced cellular differentiation in all-trans retinoic acid-sensitive and -resistant cancer cells.
Ohnuma-Ishikawa K, Morio T, Yamada T, Sugawara Y, Ono M, Nagasawa M, Yasuda A, Morimoto C, Ohnuma K, Dang NH, Hosoi H, Verdin E, Mizutani S
Cancer Res 2007 Feb 1;67(3):1019-29. doi: 10.1158/0008-5472.CAN-06-1638. PMID: 17283134

Clinical prediction guides

Functional dissociation between PIKfyve-synthesized PtdIns5P and PtdIns(3,5)P2 by means of the PIKfyve inhibitor YM201636.
Sbrissa D, Ikonomov OC, Filios C, Delvecchio K, Shisheva A
Am J Physiol Cell Physiol 2012 Aug 15;303(4):C436-46. Epub 2012 May 23 doi: 10.1152/ajpcell.00105.2012. PMID: 22621786Free PMC Article

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    Related information

    • ClinVar
      Related medical variations
    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed

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