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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

Levy B, Wapner R
Fertil Steril 2018 Feb;109(2):201-212. doi: 10.1016/j.fertnstert.2018.01.005. PMID: 29447663Free PMC Article
Kato M, Manabe A
Pediatr Int 2018 Jan;60(1):4-12. doi: 10.1111/ped.13457. PMID: 29143423
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

Yang H, DeWan AT, Desai MM, Vermund SH
Hum Genomics 2022 Dec 20;16(1):69. doi: 10.1186/s40246-022-00442-8. PMID: 36536471Free PMC Article
Capalbo A, Poli M, Jalas C, Forman EJ, Treff NR
Am J Hum Genet 2022 Sep 1;109(9):1572-1581. doi: 10.1016/j.ajhg.2022.07.009. PMID: 36055209Free PMC Article
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 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
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

Diagnosis

Capalbo A, Poli M, Jalas C, Forman EJ, Treff NR
Am J Hum Genet 2022 Sep 1;109(9):1572-1581. doi: 10.1016/j.ajhg.2022.07.009. PMID: 36055209Free PMC Article
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
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

Therapy

Yan J, Qin Y, Zhao H, Sun Y, Gong F, Li R, Sun X, Ling X, Li H, Hao C, Tan J, Yang J, Zhu Y, Liu F, Chen D, Wei D, Lu J, Ni T, Zhou W, Wu K, Gao Y, Shi Y, Lu Y, Zhang T, Wu W, Ma X, Ma H, Fu J, Zhang J, Meng Q, Zhang H, Legro RS, Chen ZJ
N Engl J Med 2021 Nov 25;385(22):2047-2058. doi: 10.1056/NEJMoa2103613. PMID: 34818479
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
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 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
Kato M, Manabe A
Pediatr Int 2018 Jan;60(1):4-12. doi: 10.1111/ped.13457. PMID: 29143423

Prognosis

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
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
Babariya D, Fragouli E, Alfarawati S, Spath K, Wells D
Hum Reprod 2017 Dec 1;32(12):2549-2560. doi: 10.1093/humrep/dex324. PMID: 29126206
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
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

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
Tiegs AW, Tao X, Zhan Y, Whitehead C, Kim J, Hanson B, Osman E, Kim TJ, Patounakis G, Gutmann J, Castelbaum A, Seli E, Jalas C, Scott RT Jr
Fertil Steril 2021 Mar;115(3):627-637. Epub 2020 Aug 28 doi: 10.1016/j.fertnstert.2020.07.052. PMID: 32863013
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
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
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

Bamford T, Barrie A, Montgomery S, Dhillon-Smith R, Campbell A, Easter C, Coomarasamy A
Hum Reprod Update 2022 Aug 25;28(5):656-686. doi: 10.1093/humupd/dmac022. PMID: 35613016
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
Ricci E, Viganò P, Cipriani S, Somigliana E, Chiaffarino F, Bulfoni A, Parazzini F
Nutr J 2017 Jun 24;16(1):37. doi: 10.1186/s12937-017-0257-2. PMID: 28646871Free PMC Article
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), 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

    • 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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