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Aneuploidy

MedGen UID:
294
•Concept ID:
C0002938
•
Cell or Molecular Dysfunction
Synonyms: Aneuploid; Aneuploidies; Aneuploids
SNOMED CT: Aneuploidy (80056000); Alteration of chromosome number (80056000)
 
Monarch Initiative: MONDO:0700064

Definition

A chromosomal abnormality in which there is an addition or loss of chromosomes within a set (e.g., 23 + 22 or 23 + 24). [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAneuploidy

Professional guidelines

PubMed

Noninvasive prenatal screening (NIPS) for fetal chromosome abnormalities in a general-risk population: An evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Dungan JS, Klugman S, Darilek S, Malinowski J, Akkari YMN, Monaghan KG, Erwin A, Best RG; ACMG Board of Directors. Electronic address: documents@acmg.net
Genet Med 2023 Feb;25(2):100336. Epub 2022 Dec 16 doi: 10.1016/j.gim.2022.11.004. PMID: 36524989
PGDIS position statement on the transfer of mosaic embryos 2021.
Leigh D, Cram DS, Rechitsky S, Handyside A, Wells D, Munne S, Kahraman S, Grifo J, Katz-Jaffe M, Rubio C, Viotti M, Forman E, Xu K, Gordon T, Madjunkova S, Qiao J, Chen ZJ, Harton G, Gianaroli L, Simon C, Scott R, Simpson JL, Kuliev A
Reprod Biomed Online 2022 Jul;45(1):19-25. Epub 2022 Mar 20 doi: 10.1016/j.rbmo.2022.03.013. PMID: 35523707
Prenatal Diagnosis: Screening and Diagnostic Tools.
Carlson LM, Vora NL
Obstet Gynecol Clin North Am 2017 Jun;44(2):245-256. doi: 10.1016/j.ogc.2017.02.004. PMID: 28499534Free PMC Article

Curated

National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening

Recent clinical studies

Etiology

Mechanisms of oocyte aneuploidy associated with advanced maternal age.
Mikwar M, MacFarlane AJ, Marchetti F
Mutat Res Rev Mutat Res 2020 Jul-Sep;785:108320. Epub 2020 Jul 4 doi: 10.1016/j.mrrev.2020.108320. PMID: 32800274
Practice Bulletin No. 163: Screening for Fetal Aneuploidy.
Obstet Gynecol 2016 May;127(5):e123-e137. doi: 10.1097/AOG.0000000000001406. PMID: 26938574
The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening.
Franasiak JM, Forman EJ, Hong KH, Werner MD, Upham KM, Treff NR, Scott RT Jr
Fertil Steril 2014 Mar;101(3):656-663.e1. Epub 2013 Dec 17 doi: 10.1016/j.fertnstert.2013.11.004. PMID: 24355045
Mechanisms of mosaicism, chimerism and uniparental disomy identified by single nucleotide polymorphism array analysis.
Conlin LK, Thiel BD, Bonnemann CG, Medne L, Ernst LM, Zackai EH, Deardorff MA, Krantz ID, Hakonarson H, Spinner NB
Hum Mol Genet 2010 Apr 1;19(7):1263-75. Epub 2010 Jan 6 doi: 10.1093/hmg/ddq003. PMID: 20053666Free PMC Article
To err (meiotically) is human: the genesis of human aneuploidy.
Hassold T, Hunt P
Nat Rev Genet 2001 Apr;2(4):280-91. doi: 10.1038/35066065. PMID: 11283700

Diagnosis

Chromosomal instability accelerates the evolution of resistance to anti-cancer therapies.
Lukow DA, Sausville EL, Suri P, Chunduri NK, Wieland A, Leu J, Smith JC, Girish V, Kumar AA, Kendall J, Wang Z, Storchova Z, Sheltzer JM
Dev Cell 2021 Sep 13;56(17):2427-2439.e4. Epub 2021 Aug 4 doi: 10.1016/j.devcel.2021.07.009. PMID: 34352222Free PMC Article
Preimplantation Genetic Testing for Aneuploidy - a Castle Built on Sand.
Gleicher N, Patrizio P, Brivanlou A
Trends Mol Med 2021 Aug;27(8):731-742. Epub 2021 Jan 11 doi: 10.1016/j.molmed.2020.11.009. PMID: 33446425
Non-invasive prenatal testing in the context of IVF and PGT-A.
Kimelman D, Pavone ME
Best Pract Res Clin Obstet Gynaecol 2021 Jan;70:51-62. Epub 2020 Jul 15 doi: 10.1016/j.bpobgyn.2020.07.004. PMID: 32739290
Prenatal Diagnosis: Screening and Diagnostic Tools.
Carlson LM, Vora NL
Obstet Gynecol Clin North Am 2017 Jun;44(2):245-256. doi: 10.1016/j.ogc.2017.02.004. PMID: 28499534Free PMC Article
Practice Bulletin No. 163: Screening for Fetal Aneuploidy.
Obstet Gynecol 2016 May;127(5):e123-e137. doi: 10.1097/AOG.0000000000001406. PMID: 26938574

Therapy

Mitigation of chromosome loss in clinical CRISPR-Cas9-engineered T cells.
Tsuchida CA, Brandes N, Bueno R, Trinidad M, Mazumder T, Yu B, Hwang B, Chang C, Liu J, Sun Y, Hopkins CR, Parker KR, Qi Y, Hofman L, Satpathy AT, Stadtmauer EA, Cate JHD, Eyquem J, Fraietta JA, June CH, Chang HY, Ye CJ, Doudna JA
Cell 2023 Oct 12;186(21):4567-4582.e20. Epub 2023 Oct 3 doi: 10.1016/j.cell.2023.08.041. PMID: 37794590Free PMC Article
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.
Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Simón C
Am J Hum Genet 2021 Dec 2;108(12):2238-2247. Epub 2021 Nov 18 doi: 10.1016/j.ajhg.2021.11.002. PMID: 34798051Free PMC Article
The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.
Treff NR, Marin D
Fertil Steril 2021 Nov;116(5):1205-1211. Epub 2021 Jul 23 doi: 10.1016/j.fertnstert.2021.06.027. PMID: 34304887
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
To err (meiotically) is human: the genesis of human aneuploidy.
Hassold T, Hunt P
Nat Rev Genet 2001 Apr;2(4):280-91. doi: 10.1038/35066065. PMID: 11283700

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
Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study.
Heesterbeek CJ, Aukema SM, Galjaard RH, Boon EMJ, Srebniak MI, Bouman K, Faas BHW, Govaerts LCP, Hoffer MJV, den Hollander NS, Lichtenbelt KD, van Maarle MC, van Prooyen Schuurman L, van Rij MC, Schuring-Blom GH, Stevens SJC, Tan-Sindhunata G, Zamani Esteki M, de Die-Smulders CEM, Tjan-Heijnen VCG, Henneman L, Sistermans EA, Macville MVE; Dutch NIPT Consortium
J Clin Oncol 2022 Aug 1;40(22):2426-2435. Epub 2022 Apr 8 doi: 10.1200/JCO.21.02260. PMID: 35394817
Mosaic human preimplantation embryos and their developmental potential in a prospective, non-selection clinical trial.
Capalbo A, Poli M, Rienzi L, Girardi L, Patassini C, Fabiani M, Cimadomo D, Benini F, Farcomeni A, Cuzzi J, Rubio C, Albani E, Sacchi L, Vaiarelli A, Figliuzzi M, Findikli N, Coban O, Boynukalin FK, Vogel I, Hoffmann E, Livi C, Levi-Setti PE, Ubaldi FM, Simón C
Am J Hum Genet 2021 Dec 2;108(12):2238-2247. Epub 2021 Nov 18 doi: 10.1016/j.ajhg.2021.11.002. PMID: 34798051Free PMC Article
Delayed child-bearing.
Johnson JA, Tough S; SOGC GENETICS COMMITTEE
J Obstet Gynaecol Can 2012 Jan;34(1):80-93. doi: 10.1016/S1701-2163(16)35138-6. PMID: 22260768
Congenital heart disease and aneuploidy.
Wimalasundera RC, Gardiner HM
Prenat Diagn 2004 Dec 30;24(13):1116-22. doi: 10.1002/pd.1068. PMID: 15614848

Clinical prediction guides

The "mosaic" embryo: misconceptions and misinterpretations in preimplantation genetic testing for aneuploidy.
Treff NR, Marin D
Fertil Steril 2021 Nov;116(5):1205-1211. Epub 2021 Jul 23 doi: 10.1016/j.fertnstert.2021.06.027. PMID: 34304887
Clinical management of mosaic results from preimplantation genetic testing for aneuploidy (PGT-A) of blastocysts: a committee opinion.
Practice Committee and Genetic Counseling Professional Group (GCPG) of the American Society for Reproductive Medicine. Electronic address: asrm@asrm.org
Fertil Steril 2020 Aug;114(2):246-254. doi: 10.1016/j.fertnstert.2020.05.014. PMID: 32741460
Preimplantation genetic testing for aneuploidy versus morphology as selection criteria for single frozen-thawed embryo transfer in good-prognosis patients: a multicenter randomized clinical trial.
Munné S, Kaplan B, Frattarelli JL, Child T, Nakhuda G, Shamma FN, Silverberg K, Kalista T, Handyside AH, Katz-Jaffe M, Wells D, Gordon T, Stock-Myer S, Willman S; STAR Study Group
Fertil Steril 2019 Dec;112(6):1071-1079.e7. Epub 2019 Sep 21 doi: 10.1016/j.fertnstert.2019.07.1346. PMID: 31551155
The use of preimplantation genetic testing for aneuploidy (PGT-A): a committee opinion.
Practice Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology. Electronic address: ASRM@asrm.org; Practice Committees of the American Society for Reproductive Medicine and the Society for Assisted Reproductive Technology
Fertil Steril 2018 Mar;109(3):429-436. doi: 10.1016/j.fertnstert.2018.01.002. PMID: 29566854
Prenatal diagnosis by chromosomal microarray analysis.
Levy B, Wapner R
Fertil Steril 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005. PMID: 29447663Free PMC Article

Recent systematic reviews

Does maternal age affect assisted reproduction technology success rates after euploid embryo transfer? A systematic review and meta-analysis.
Vitagliano A, Paffoni A, Viganò P
Fertil Steril 2023 Aug;120(2):251-265. Epub 2023 Mar 5 doi: 10.1016/j.fertnstert.2023.02.036. PMID: 36878347
Recurrent implantation failure: reality or a statistical mirage?: Consensus statement from the July 1, 2022 Lugano Workshop on recurrent implantation failure.
(The writing group) for the participants to the 2022 Lugano RIF Workshop, Pirtea P, Cedars MI, Devine K, Ata B, Franasiak J, Racowsky C, Toner J, Scott RT, de Ziegler D, Barnhart KT
Fertil Steril 2023 Jul;120(1):45-59. Epub 2023 Feb 22 doi: 10.1016/j.fertnstert.2023.02.014. PMID: 36822566
PGT-A: who and when? Α systematic review and network meta-analysis of RCTs.
Simopoulou M, Sfakianoudis K, Maziotis E, Tsioulou P, Grigoriadis S, Rapani A, Giannelou P, Asimakopoulou M, Kokkali G, Pantou A, Nikolettos K, Vlahos N, Pantos K
J Assist Reprod Genet 2021 Aug;38(8):1939-1957. Epub 2021 May 25 doi: 10.1007/s10815-021-02227-9. PMID: 34036455Free PMC Article
Discordant non-invasive prenatal testing (NIPT) - a systematic review.
Hartwig TS, Ambye L, Sørensen S, Jørgensen FS
Prenat Diagn 2017 Jun;37(6):527-539. Epub 2017 Jun 1 doi: 10.1002/pd.5049. PMID: 28382695
Society for maternal-fetal medicine (SMFM) clinical guideline #7: nonimmune hydrops fetalis.
Society for Maternal-Fetal Medicine (SMFM), Norton ME, Chauhan SP, Dashe JS
Am J Obstet Gynecol 2015 Feb;212(2):127-39. Epub 2014 Dec 31 doi: 10.1016/j.ajog.2014.12.018. PMID: 25557883

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NSGC, 2021
      National Society of Genetic Counselors Position Statement: Prenatal Cell-Free DNA Screening

    Consumer resources

    Reviews

    Related information

    • GTR
      Related information in GTR
    • GTR(Clinical)
      Clinical tests in GTR
    • MeSH
      Related Medical Subject Headings
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      Related information in PubMed Central Links
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