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Minimal Aneuploidy

MedGen UID:
821807
•Concept ID:
C3829059
•
Cell or Molecular Dysfunction

Definition

A numerical chromosomal abnormality characterized by the presence of copy number variations in less than five percent of chromosomal arms. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMinimal Aneuploidy

Professional guidelines

PubMed

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
How should costs and cost-effectiveness be considered in prenatal genetic testing?
Sparks TN, Caughey AB
Semin Perinatol 2018 Aug;42(5):275-282. Epub 2018 Jul 26 doi: 10.1053/j.semperi.2018.07.003. PMID: 30173949Free PMC Article
Treatment and biology of pediatric acute lymphoblastic leukemia.
Kato M, Manabe A
Pediatr Int 2018 Jan;60(1):4-12. doi: 10.1111/ped.13457. PMID: 29143423

Recent clinical studies

Etiology

Noninvasive genetic screening: current advances in artificial intelligence for embryo ploidy prediction.
Jiang VS, Bormann CL
Fertil Steril 2023 Aug;120(2):228-234. Epub 2023 Jun 30 doi: 10.1016/j.fertnstert.2023.06.025. PMID: 37394089
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
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
Treatment and biology of pediatric acute lymphoblastic leukemia.
Kato M, Manabe A
Pediatr Int 2018 Jan;60(1):4-12. doi: 10.1111/ped.13457. PMID: 29143423
Perimenopausal conception.
Tarlatzis BC, Zepiridis L
Ann N Y Acad Sci 2003 Nov;997:93-104. doi: 10.1196/annals.1290.011. PMID: 14644814

Diagnosis

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
Chromosomal analysis in IVF: just how useful is it?
Griffin DK, Ogur C
Reproduction 2018 Jul;156(1):F29-F50. doi: 10.1530/REP-17-0683. PMID: 29945889
Treatment and biology of pediatric acute lymphoblastic leukemia.
Kato M, Manabe A
Pediatr Int 2018 Jan;60(1):4-12. doi: 10.1111/ped.13457. PMID: 29143423
Perimenopausal conception.
Tarlatzis BC, Zepiridis L
Ann N Y Acad Sci 2003 Nov;997:93-104. doi: 10.1196/annals.1290.011. PMID: 14644814
Lymphoid neoplasms.
Oscier DG, Gardiner AC
Best Pract Res Clin Haematol 2001 Sep;14(3):609-30. doi: 10.1053/beha.2001.0157. PMID: 11640872

Therapy

Noninvasive genetic screening: current advances in artificial intelligence for embryo ploidy prediction.
Jiang VS, Bormann CL
Fertil Steril 2023 Aug;120(2):228-234. Epub 2023 Jun 30 doi: 10.1016/j.fertnstert.2023.06.025. PMID: 37394089
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
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA.
Huebner A, Black JRM, Sarno F, Pazo R, Juez I, Medina L, Garcia-Carbonero R, Guillén C, Feliú J, Alonso C, Arenillas C, Moreno-Cárdenas AB, Verdaguer H, Macarulla T, Hidalgo M, McGranahan N, Toledo RA
Genome Med 2023 Apr 20;15(1):27. doi: 10.1186/s13073-023-01171-w. PMID: 37081523Free PMC Article
Treatment and biology of pediatric acute lymphoblastic leukemia.
Kato M, Manabe A
Pediatr Int 2018 Jan;60(1):4-12. doi: 10.1111/ped.13457. PMID: 29143423
Perimenopausal conception.
Tarlatzis BC, Zepiridis L
Ann N Y Acad Sci 2003 Nov;997:93-104. doi: 10.1196/annals.1290.011. PMID: 14644814

Prognosis

Noninvasive genetic screening: current advances in artificial intelligence for embryo ploidy prediction.
Jiang VS, Bormann CL
Fertil Steril 2023 Aug;120(2):228-234. Epub 2023 Jun 30 doi: 10.1016/j.fertnstert.2023.06.025. PMID: 37394089
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
Tumor-Associated Retinal Pigmentation in Choroidal Melanoma.
Wallace A, Krishna Y, Coupland SE, Heimann H, Diafas A, Hussain RN
Ophthalmology 2023 Oct;130(10):1046-1052. Epub 2023 May 13 doi: 10.1016/j.ophtha.2023.05.009. PMID: 37182744
Perimenopausal conception.
Tarlatzis BC, Zepiridis L
Ann N Y Acad Sci 2003 Nov;997:93-104. doi: 10.1196/annals.1290.011. PMID: 14644814
Lymphoid neoplasms.
Oscier DG, Gardiner AC
Best Pract Res Clin Haematol 2001 Sep;14(3):609-30. doi: 10.1053/beha.2001.0157. PMID: 11640872

Clinical prediction guides

Noninvasive genetic screening: current advances in artificial intelligence for embryo ploidy prediction.
Jiang VS, Bormann CL
Fertil Steril 2023 Aug;120(2):228-234. Epub 2023 Jun 30 doi: 10.1016/j.fertnstert.2023.06.025. PMID: 37394089
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
Tumor-Associated Retinal Pigmentation in Choroidal Melanoma.
Wallace A, Krishna Y, Coupland SE, Heimann H, Diafas A, Hussain RN
Ophthalmology 2023 Oct;130(10):1046-1052. Epub 2023 May 13 doi: 10.1016/j.ophtha.2023.05.009. PMID: 37182744
ACT-Discover: identifying karyotype heterogeneity in pancreatic cancer evolution using ctDNA.
Huebner A, Black JRM, Sarno F, Pazo R, Juez I, Medina L, Garcia-Carbonero R, Guillén C, Feliú J, Alonso C, Arenillas C, Moreno-Cárdenas AB, Verdaguer H, Macarulla T, Hidalgo M, McGranahan N, Toledo RA
Genome Med 2023 Apr 20;15(1):27. doi: 10.1186/s13073-023-01171-w. PMID: 37081523Free PMC Article
Perimenopausal conception.
Tarlatzis BC, Zepiridis L
Ann N Y Acad Sci 2003 Nov;997:93-104. doi: 10.1196/annals.1290.011. PMID: 14644814

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
Is there an association between paternal age and aneuploidy? Evidence from young donor oocyte-derived embryos: a systematic review and individual patient data meta-analysis.
Dviri M, Madjunkova S, Koziarz A, Madjunkov M, Mashiach J, Nekolaichuk E, Trivodaliev K, Al-Asmar N, Moskovtsev SI, Librach C
Hum Reprod Update 2021 Apr 21;27(3):486-500. doi: 10.1093/humupd/dmaa052. PMID: 33355342
Risk for chromosomal aberrations in apparently isolated intrauterine growth restriction: A systematic review.
Sagi-Dain L, Peleg A, Sagi S
Prenat Diagn 2017 Nov;37(11):1061-1066. Epub 2017 Oct 15 doi: 10.1002/pd.5160. PMID: 28944967
Clinical benefit using sperm hyaluronic acid binding technique in ICSI cycles: a systematic review and meta-analysis.
Beck-Fruchter R, Shalev E, Weiss A
Reprod Biomed Online 2016 Mar;32(3):286-98. Epub 2015 Dec 23 doi: 10.1016/j.rbmo.2015.12.001. PMID: 26776822
Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis.
Akolekar R, Beta J, Picciarelli G, Ogilvie C, D'Antonio F
Ultrasound Obstet Gynecol 2015 Jan;45(1):16-26. doi: 10.1002/uog.14636. PMID: 25042845

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