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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

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
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
Park HJ, Shim SS, Cha DH
Int J Mol Sci 2015 Aug 4;16(8):17952-74. doi: 10.3390/ijms160817952. PMID: 26247944Free PMC Article

Curated

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

Recent clinical studies

Etiology

Practice Committees of the American Society for Reproductive Medicine and the Genetic Counseling Professional Group. Electronic address: asrm@asrm.org
Fertil Steril 2023 Nov;120(5):973-982. Epub 2023 Sep 9 doi: 10.1016/j.fertnstert.2023.08.969. PMID: 37678731
Norton ME
Clin Obstet Gynecol 2023 Sep 1;66(3):557-567. Epub 2023 Jul 17 doi: 10.1097/GRF.0000000000000796. PMID: 37650668
Dunn TM, Subramaniam A
Obstet Gynecol Clin North Am 2023 Sep;50(3):493-507. Epub 2023 May 8 doi: 10.1016/j.ogc.2023.03.005. PMID: 37500212
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
Bender W, Dugoff L
Obstet Gynecol Clin North Am 2018 Mar;45(1):41-53. doi: 10.1016/j.ogc.2017.10.004. PMID: 29428285

Diagnosis

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
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
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
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
Lalioti MD
Minerva Ginecol 2010 Jun;62(3):213-23. PMID: 20595946

Therapy

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
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
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
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
Kitzen JJ, de Jonge MJ, Verweij J
Crit Rev Oncol Hematol 2010 Feb;73(2):99-110. Epub 2009 Apr 14 doi: 10.1016/j.critrevonc.2009.03.009. PMID: 19369091

Prognosis

Galbraith K, Garcia M, Wei S, Chen A, Schroff C, Serrano J, Pacione D, Placantonakis DG, William CM, Faustin A, Zagzag D, Barbaro M, Eibl MDPGP, Shirahata M, Reuss D, Tran QT, Alom Z, von Deimling A, Orr BA, Sulman EP, Golfinos JG, Orringer DA, Jain R, Lieberman E, Feng Y, Snuderl M
Neuro Oncol 2024 Jun 3;26(6):1042-1051. doi: 10.1093/neuonc/noae009. PMID: 38243818Free PMC Article
Jones KT
Hum Reprod Update 2008 Mar-Apr;14(2):143-58. Epub 2007 Dec 14 doi: 10.1093/humupd/dmm043. PMID: 18084010
Souka AP, Von Kaisenberg CS, Hyett JA, Sonek JD, Nicolaides KH
Am J Obstet Gynecol 2005 Apr;192(4):1005-21. doi: 10.1016/j.ajog.2004.12.093. PMID: 15846173
McFadden DE, Friedman JM
Mutat Res 1997 Dec 12;396(1-2):129-40. doi: 10.1016/s0027-5107(97)00179-6. PMID: 9434864
Hassold T, Abruzzo M, Adkins K, Griffin D, Merrill M, Millie E, Saker D, Shen J, Zaragoza M
Environ Mol Mutagen 1996;28(3):167-75. doi: 10.1002/(SICI)1098-2280(1996)28:3<167::AID-EM2>3.0.CO;2-B. PMID: 8908177

Clinical prediction guides

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
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
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
Kim J, Seli E
Reproduction 2019 Jun;157(6):R235-R242. doi: 10.1530/REP-18-0580. PMID: 30844752
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

Recent systematic reviews

Cascales A, Morales R, Castro A, Ortiz JA, Lledo B, Ten J, Bernabeu A, Bernabeu R
J Assist Reprod Genet 2023 Oct;40(10):2317-2324. Epub 2023 Aug 18 doi: 10.1007/s10815-023-02914-9. PMID: 37592098Free PMC Article
Cinnioglu C, Glessner H, Jordan A, Bunshaft S
Fertil Steril 2023 Aug;120(2):235-239. Epub 2023 Jun 24 doi: 10.1016/j.fertnstert.2023.06.013. PMID: 37356468
Reignier A, Lammers J, Barriere P, Freour T
Reprod Biomed Online 2018 Apr;36(4):380-387. Epub 2018 Feb 2 doi: 10.1016/j.rbmo.2018.01.001. PMID: 29398421
Sagi-Dain L, Sagi S
Eur J Med Genet 2015 Aug;58(8):409-15. Epub 2015 Jul 14 doi: 10.1016/j.ejmg.2015.06.010. PMID: 26186913
Chatziparasidou A, Christoforidis N, Samolada G, Nijs M
Andrologia 2015 Oct;47(8):847-60. Epub 2014 Oct 28 doi: 10.1111/and.12362. PMID: 25352353

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

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

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