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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

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
Routine prenatal diagnosis of aneuploidy by FISH studies in high-risk pregnancies.
Feldman B, Ebrahim SA, Hazan SL, Gyi K, Johnson MP, Johnson A, Evans MI
Am J Med Genet 2000 Jan 31;90(3):233-8. PMID: 10678661
The use of second-trimester genetic sonogram in guiding clinical management of patients at increased risk for fetal trisomy 21.
Vintzileos AM, Campbell WA, Rodis JF, Guzman ER, Smulian JC, Knuppel RA
Obstet Gynecol 1996 Jun;87(6):948-52. doi: 10.1016/0029-7844(96)00053-1. PMID: 8649704

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
Obstetric complications in pregnancies with life-limiting malformations.
Quaresima P, Homfray T, Greco E
Curr Opin Obstet Gynecol 2019 Dec;31(6):375-387. doi: 10.1097/GCO.0000000000000583. PMID: 31693566
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
Hydatidiform molar pregnancy following assisted reproduction.
Nickkho-Amiry M, Horne G, Akhtar M, Mathur R, Brison DR
J Assist Reprod Genet 2019 Apr;36(4):667-671. Epub 2019 Jan 5 doi: 10.1007/s10815-018-1389-9. PMID: 30612209Free PMC Article
Sphenofrontal distance in euploid and aneuploid fetuses.
Abele H, Sonek J, Goldschmid D, Wagner P, Hoopmann M, Kagan KO
Ultrasound Obstet Gynecol 2017 Aug;50(2):187-191. Epub 2017 Jul 9 doi: 10.1002/uog.17284. PMID: 27550089
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

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
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
Maternal complications in molecularly confirmed diandric and digynic triploid pregnancies: single institution experience and literature review.
Massalska D, Bijok J, Kucińska-Chahwan A, Zimowski JG, Ozdarska K, Raniszewska A, Panek GM, Roszkowski T
Arch Gynecol Obstet 2020 May;301(5):1139-1145. Epub 2020 Mar 26 doi: 10.1007/s00404-020-05515-4. PMID: 32219520Free PMC Article
Sphenofrontal distance in euploid and aneuploid fetuses.
Abele H, Sonek J, Goldschmid D, Wagner P, Hoopmann M, Kagan KO
Ultrasound Obstet Gynecol 2017 Aug;50(2):187-191. Epub 2017 Jul 9 doi: 10.1002/uog.17284. PMID: 27550089
Origin and ploidy of multipronuclear zygotes.
Tarin JJ, Trounson AO, Sathananthan H
Reprod Fertil Dev 1999;11(4-5):273-9. doi: 10.1071/rd99057. PMID: 10898292

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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