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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

Preimplantation genetic testing in assisted reproduction technology.
Fesahat F, Montazeri F, Hoseini SM
J Gynecol Obstet Hum Reprod 2020 May;49(5):101723. Epub 2020 Feb 26 doi: 10.1016/j.jogoh.2020.101723. PMID: 32113002
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

Recent clinical studies

Etiology

Tumor-intrinsic and -extrinsic determinants of response to blinatumomab in adults with B-ALL.
Zhao Y, Aldoss I, Qu C, Crawford JC, Gu Z, Allen EK, Zamora AE, Alexander TB, Wang J, Goto H, Imamura T, Akahane K, Marcucci G, Stein AS, Bhatia R, Thomas PG, Forman SJ, Mullighan CG, Roberts KG
Blood 2021 Jan 28;137(4):471-484. doi: 10.1182/blood.2020006287. PMID: 32881995Free PMC Article
Preimplantation genetic testing in assisted reproduction technology.
Fesahat F, Montazeri F, Hoseini SM
J Gynecol Obstet Hum Reprod 2020 May;49(5):101723. Epub 2020 Feb 26 doi: 10.1016/j.jogoh.2020.101723. PMID: 32113002
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
Risk Factors for Birth Defects.
Harris BS, Bishop KC, Kemeny HR, Walker JS, Rhee E, Kuller JA
Obstet Gynecol Surv 2017 Feb;72(2):123-135. doi: 10.1097/OGX.0000000000000405. PMID: 28218773

Diagnosis

Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1301 human blastocysts.
Rubio C, Navarro-Sánchez L, García-Pascual CM, Ocali O, Cimadomo D, Venier W, Barroso G, Kopcow L, Bahçeci M, Kulmann MIR, López L, De la Fuente E, Navarro R, Valbuena D, Sakkas D, Rienzi L, Simón C
Am J Obstet Gynecol 2020 Nov;223(5):751.e1-751.e13. Epub 2020 May 26 doi: 10.1016/j.ajog.2020.04.035. PMID: 32470458
Preimplantation genetic testing in assisted reproduction technology.
Fesahat F, Montazeri F, Hoseini SM
J Gynecol Obstet Hum Reprod 2020 May;49(5):101723. Epub 2020 Feb 26 doi: 10.1016/j.jogoh.2020.101723. PMID: 32113002
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
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

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-intrinsic and -extrinsic determinants of response to blinatumomab in adults with B-ALL.
Zhao Y, Aldoss I, Qu C, Crawford JC, Gu Z, Allen EK, Zamora AE, Alexander TB, Wang J, Goto H, Imamura T, Akahane K, Marcucci G, Stein AS, Bhatia R, Thomas PG, Forman SJ, Mullighan CG, Roberts KG
Blood 2021 Jan 28;137(4):471-484. doi: 10.1182/blood.2020006287. PMID: 32881995Free PMC Article
The 2019 PGDIS position statement on transfer of mosaic embryos within a context of new information on PGT-A.
Gleicher N, Albertini DF, Barad DH, Homer H, Modi D, Murtinger M, Patrizio P, Orvieto R, Takahashi S, Weghofer A, Ziebe S, Noyes N; International Do No Harm Group in IVF (IDNHG-IVF)
Reprod Biol Endocrinol 2020 May 29;18(1):57. doi: 10.1186/s12958-020-00616-w. PMID: 32471441Free 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

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-intrinsic and -extrinsic determinants of response to blinatumomab in adults with B-ALL.
Zhao Y, Aldoss I, Qu C, Crawford JC, Gu Z, Allen EK, Zamora AE, Alexander TB, Wang J, Goto H, Imamura T, Akahane K, Marcucci G, Stein AS, Bhatia R, Thomas PG, Forman SJ, Mullighan CG, Roberts KG
Blood 2021 Jan 28;137(4):471-484. doi: 10.1182/blood.2020006287. PMID: 32881995Free PMC Article
Cardiac Surgery in Trisomy 13 and 18: A Guide to Clinical Decision-Making.
Carvajal HG, Callahan CP, Miller JR, Rensink BL, Eghtesady P
Pediatr Cardiol 2020 Oct;41(7):1319-1333. Epub 2020 Sep 14 doi: 10.1007/s00246-020-02444-6. PMID: 32924070
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

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-intrinsic and -extrinsic determinants of response to blinatumomab in adults with B-ALL.
Zhao Y, Aldoss I, Qu C, Crawford JC, Gu Z, Allen EK, Zamora AE, Alexander TB, Wang J, Goto H, Imamura T, Akahane K, Marcucci G, Stein AS, Bhatia R, Thomas PG, Forman SJ, Mullighan CG, Roberts KG
Blood 2021 Jan 28;137(4):471-484. doi: 10.1182/blood.2020006287. PMID: 32881995Free PMC Article
Cardiac Surgery in Trisomy 13 and 18: A Guide to Clinical Decision-Making.
Carvajal HG, Callahan CP, Miller JR, Rensink BL, Eghtesady P
Pediatr Cardiol 2020 Oct;41(7):1319-1333. Epub 2020 Sep 14 doi: 10.1007/s00246-020-02444-6. PMID: 32924070
Multicenter prospective study of concordance between embryonic cell-free DNA and trophectoderm biopsies from 1301 human blastocysts.
Rubio C, Navarro-Sánchez L, García-Pascual CM, Ocali O, Cimadomo D, Venier W, Barroso G, Kopcow L, Bahçeci M, Kulmann MIR, López L, De la Fuente E, Navarro R, Valbuena D, Sakkas D, Rienzi L, Simón C
Am J Obstet Gynecol 2020 Nov;223(5):751.e1-751.e13. Epub 2020 May 26 doi: 10.1016/j.ajog.2020.04.035. PMID: 32470458
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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