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Triploidy

MedGen UID:
90711
•Concept ID:
C0333693
•
Disease or Syndrome
Synonyms: Chromosome triploidy syndrome; Triploid syndrome; Triploidy syndrome
SNOMED CT: Triploidy syndrome (66651005); Triploidy (14847005); Triploidy (66651005)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Unknown inheritance (Orphanet)
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0018067
Orphanet: ORPHA3376

Definition

Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal. [from ORDO]

Term Hierarchy

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

Professional guidelines

PubMed

Improved clinical utility of preimplantation genetic testing through the integration of ploidy and common pathogenic microdeletions analyses.
Caroselli S, Figliuzzi M, Picchetta L, Cogo F, Zambon P, Pergher I, Girardi L, Patassini C, Poli M, Bakalova D, Cimadomo D, Findikli N, Coban O, Serdarogullari M, Favero F, Bortolato S, Anastasi A, Capodanno F, Gallinelli A, Brancati F, Rienzi L, Ubaldi FM, Jimenez-Almazán J, Blesa-Jarque D, Miravet-Valenciano J, Rubio C, Simòn C, Capalbo A
Hum Reprod 2023 Apr 3;38(4):762-775. doi: 10.1093/humrep/dead033. PMID: 36824049
Prenatal diagnosis of acrania/exencephaly/anencephaly sequence (AEAS): additional structural and genetic anomalies.
Bijok J, Dąbkowska S, Kucińska-Chahwan A, Massalska D, Nowakowska B, Gawlik-Zawiślak S, Panek G, Roszkowski T
Arch Gynecol Obstet 2023 Jan;307(1):293-299. Epub 2022 May 12 doi: 10.1007/s00404-022-06584-3. PMID: 35554661
Non-invasive prenatal screening for fetal triploidy using single nucleotide polymorphism-based testing: Differential diagnosis and clinical management in cases showing an extra haplotype.
Kantor V, Jelsema R, Xu W, DiNonno W, Young K, Demko Z, Benn P
Prenat Diagn 2022 Jul;42(8):994-999. Epub 2022 May 21 doi: 10.1002/pd.6169. PMID: 35574995Free PMC Article

Recent clinical studies

Etiology

Hydatidiform mole.
Daumová M, Hadravská Š, Putzová M
Cesk Patol 2023 Summer;59(2):50-54. PMID: 37468322
Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
Triploid pregnancy-Clinical implications.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Long-term follow-up of salvage therapy using a combination of inotuzumab ozogamicin and mini-hyper-CVD with or without blinatumomab in relapsed/refractory Philadelphia chromosome-negative acute lymphoblastic leukemia.
Jabbour E, Sasaki K, Short NJ, Ravandi F, Huang X, Khoury JD, Kanagal-Shamanna R, Jorgensen J, Khouri IF, Kebriaei P, Jain N, Alvarado Y, Kadia TM, Paul S, Garcia-Manero G, Dabaja BS, Burger JA, DiNardo CD, Daver NA, Montalban-Bravo G, Yilmaz M, Ohanian M, Ferrajoli A, Jacob J, Rostykus M, Garris R, O'Brien S, Kantarjian HM
Cancer 2021 Jun 15;127(12):2025-2038. Epub 2021 Mar 19 doi: 10.1002/cncr.33469. PMID: 33740268
Stillborn Infants: Associated Malformations.
Holmes LB, Nasri H, Beroukhim R, Hunt AT, Roberts DJ, Toufaily MH, Westgate MN
Birth Defects Res 2018 Jan;110(2):114-121. doi: 10.1002/bdr2.1097. PMID: 29377646

Diagnosis

Hydatidiform mole.
Daumová M, Hadravská Š, Putzová M
Cesk Patol 2023 Summer;59(2):50-54. PMID: 37468322
Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
Triploid pregnancy-Clinical implications.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Exencephaly-anencephaly Sequence.
Society for Maternal-Fetal Medicine, Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B5-B8. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.176. PMID: 33168213
Chromosomal microarray versus karyotyping for prenatal diagnosis.
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L
N Engl J Med 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382. PMID: 23215555Free PMC Article

Therapy

Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
Fetal fraction and noninvasive prenatal testing: What clinicians need to know.
Hui L, Bianchi DW
Prenat Diagn 2020 Jan;40(2):155-163. Epub 2019 Dec 10 doi: 10.1002/pd.5620. PMID: 31821597Free PMC Article
24-chromosome PCR for aneuploidy screening.
Werner MD, Scott RT Jr, Treff NR
Curr Opin Obstet Gynecol 2015 Jun;27(3):201-5. doi: 10.1097/GCO.0000000000000167. PMID: 25699477
Chromosomal microarray versus karyotyping for prenatal diagnosis.
Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L
N Engl J Med 2012 Dec 6;367(23):2175-84. doi: 10.1056/NEJMoa1203382. PMID: 23215555Free PMC Article
Fetal exomphalos and chromosomal defects: relationship to maternal age and gestation.
Snijders RJ, Sebire NJ, Souka A, Santiago C, Nicolaides KH
Ultrasound Obstet Gynecol 1995 Oct;6(4):250-5. doi: 10.1046/j.1469-0705.1995.06040250.x. PMID: 8590187

Prognosis

Prognostic impact of chromosomal abnormalities and copy number alterations in adult B-cell precursor acute lymphoblastic leukaemia: a UKALL14 study.
Moorman AV, Barretta E, Butler ER, Ward EJ, Twentyman K, Kirkwood AA, Enshaei A, Schwab C, Creasey T, Leongamornlert D, Papaemmanuil E, Patrick P, Clifton-Hadley L, Patel B, Menne T, McMillan AK, Harrison CJ, Rowntree CJ, Marks DI, Fielding AK
Leukemia 2022 Mar;36(3):625-636. Epub 2021 Oct 16 doi: 10.1038/s41375-021-01448-2. PMID: 34657128Free PMC Article
Triploid pregnancy-Clinical implications.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Long-term follow-up of salvage therapy using a combination of inotuzumab ozogamicin and mini-hyper-CVD with or without blinatumomab in relapsed/refractory Philadelphia chromosome-negative acute lymphoblastic leukemia.
Jabbour E, Sasaki K, Short NJ, Ravandi F, Huang X, Khoury JD, Kanagal-Shamanna R, Jorgensen J, Khouri IF, Kebriaei P, Jain N, Alvarado Y, Kadia TM, Paul S, Garcia-Manero G, Dabaja BS, Burger JA, DiNardo CD, Daver NA, Montalban-Bravo G, Yilmaz M, Ohanian M, Ferrajoli A, Jacob J, Rostykus M, Garris R, O'Brien S, Kantarjian HM
Cancer 2021 Jun 15;127(12):2025-2038. Epub 2021 Mar 19 doi: 10.1002/cncr.33469. PMID: 33740268
Holoprosencephaly.
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B13-B16. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.178. PMID: 33168217
Genome sequencing and implications for rare disorders.
Posey JE
Orphanet J Rare Dis 2019 Jun 24;14(1):153. doi: 10.1186/s13023-019-1127-0. PMID: 31234920Free PMC Article

Clinical prediction guides

Hydatidiform mole.
Daumová M, Hadravská Š, Putzová M
Cesk Patol 2023 Summer;59(2):50-54. PMID: 37468322
Non-invasive prenatal screening for fetal triploidy using single nucleotide polymorphism-based testing: Differential diagnosis and clinical management in cases showing an extra haplotype.
Kantor V, Jelsema R, Xu W, DiNonno W, Young K, Demko Z, Benn P
Prenat Diagn 2022 Jul;42(8):994-999. Epub 2022 May 21 doi: 10.1002/pd.6169. PMID: 35574995Free PMC Article
Triploid pregnancy-Clinical implications.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Panek G, Roszkowski T
Clin Genet 2021 Oct;100(4):368-375. Epub 2021 Jun 1 doi: 10.1111/cge.14003. PMID: 34031868
Genome sequencing and implications for rare disorders.
Posey JE
Orphanet J Rare Dis 2019 Jun 24;14(1):153. doi: 10.1186/s13023-019-1127-0. PMID: 31234920Free PMC Article
Triploidy and chromosomes.
Uchida IA, Freeman VC
Am J Obstet Gynecol 1985 Jan 1;151(1):65-9. doi: 10.1016/0002-9378(85)90426-0. PMID: 3966508

Recent systematic reviews

Association between low fetal fraction in cell-free DNA screening and fetal chromosomal aberrations: A systematic review and meta-analysis.
Becking EC, Schuit E, van Baar de Knegt SME, Sistermans EA, Henneman L, Bekker MN, Scheffer PG
Prenat Diagn 2023 Jun;43(7):838-853. Epub 2023 May 17 doi: 10.1002/pd.6366. PMID: 37143173
First-Trimester Crown-Rump Length and Risk of Chromosomal Aberrations-A Systematic Review and Meta-analysis.
Sagi-Dain L, Peleg A, Sagi S
Obstet Gynecol Surv 2017 Oct;72(10):603-609. doi: 10.1097/OGX.0000000000000490. PMID: 29059452
Sirenomelia: a review on embryogenic enviromental theories, novel three-dimensional ultrasound imaging and first trimester diagnosis in a case of mosaic 69,XXX/46,XX fetus.
Tonni G, Grisolia G
Arch Gynecol Obstet 2013 Jul;288(1):3-11. Epub 2013 Apr 27 doi: 10.1007/s00404-013-2847-3. PMID: 23625330

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