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Trisomy 18

MedGen UID:
1384417
•Concept ID:
C4317091
•
Disease or Syndrome
Synonyms: Chromosome 18 trisomy; Edwards syndrome
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:0018071
Orphanet: ORPHA3380

Definition

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations. [from ORDO]

Professional guidelines

PubMed

Gabapentin for treatment of apnea in infants with trisomy 13 and 18.
Yotani N, Isayama T, Ito Y
Pediatr Int 2023 Jan-Dec;65(1):e15646. doi: 10.1111/ped.15646. PMID: 37888534
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: [email protected]
Genet Med 2023 Feb;25(2):100336. Epub 2022 Dec 16 doi: 10.1016/j.gim.2022.11.004. PMID: 36524989
Society for Maternal-Fetal Medicine Consult Series #57: Evaluation and management of isolated soft ultrasound markers for aneuploidy in the second trimester: (Replaces Consults #10, Single umbilical artery, October 2010; #16, Isolated echogenic bowel diagnosed on second-trimester ultrasound, August 2011; #17, Evaluation and management of isolated renal pelviectasis on second-trimester ultrasound, December 2011; #25, Isolated fetal choroid plexus cysts, April 2013; #27, Isolated echogenic intracardiac focus, August 2013).
Society for Maternal-Fetal Medicine (SMFM). Electronic address: [email protected], Prabhu M, Kuller JA, Biggio JR
Am J Obstet Gynecol 2021 Oct;225(4):B2-B15. Epub 2021 Jun 23 doi: 10.1016/j.ajog.2021.06.079. PMID: 34171388

Curated

American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 18: Positive Cell Free DNA Screen, 2021

Recent clinical studies

Etiology

Maternal age and the risk of fetal aneuploidy: A nationwide cohort study of more than 500 000 singleton pregnancies in Denmark from 2008 to 2017.
Elmerdahl Frederiksen L, Ølgaard SM, Roos L, Petersen OB, Rode L, Hartwig T, Ekelund CK; Danish Central Cytogenetics Registry Study Group, Vogel I
Acta Obstet Gynecol Scand 2024 Feb;103(2):351-359. Epub 2023 Nov 20 doi: 10.1111/aogs.14713. PMID: 37986093Free PMC Article
Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: [email protected]
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
Prenatally Diagnosed Fetal Aneuploidy: Natural History and Subsequent Management.
Murphy NC, Dunne H, Flood K
Ir Med J 2020 Mar 13;113(3):34. PMID: 32815676
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, Bilardo CM, Boon EMJ, Boter M, Diderich KEM, de Die-Smulders CEM, Duin LK, Faas BHW, Feenstra I, Haak MC, Hoffer MJV, den Hollander NS, Hollink IHIM, Jehee FS, Knapen MFCM, Kooper AJA, van Langen IM, Lichtenbelt KD, Linskens IH, van Maarle MC, Oepkes D, Pieters MJ, Schuring-Blom GH, Sikkel E, Sikkema-Raddatz B, Smeets DFCM, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Ven AJEM, van Zelderen-Bhola SL, Henneman L, Galjaard RH, Van Opstal D, Weiss MM; Dutch NIPT Consortium
Am J Hum Genet 2019 Dec 5;105(6):1091-1101. Epub 2019 Nov 7 doi: 10.1016/j.ajhg.2019.10.005. PMID: 31708118Free PMC Article
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Diagnosis

Surveillance guidelines for children with trisomy 18.
Kepple JW, Fishler KP, Peeples ES
Am J Med Genet A 2021 Apr;185(4):1294-1303. Epub 2021 Feb 2 doi: 10.1002/ajmg.a.62097. PMID: 33527722
Trisomies.
Levy PA, Marion R
Pediatr Rev 2018 Feb;39(2):104-106. doi: 10.1542/pir.2016-0198. PMID: 29437136
Non-invasive prenatal testing.
Harraway J
Aust Fam Physician 2017 Oct;46(10):735-739. PMID: 29036772
Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.
Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA
Rev Paul Pediatr 2013 Jan-Mar;31(1):111-20. doi: 10.1590/s0103-05822013000100018. PMID: 23703053
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Therapy

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: [email protected]
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
Radial Ray Malformation.
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis.
Gil MM, Accurti V, Santacruz B, Plana MN, Nicolaides KH
Ultrasound Obstet Gynecol 2017 Sep;50(3):302-314. Epub 2017 Jul 27 doi: 10.1002/uog.17484. PMID: 28397325
An ounce of prevention.
Randis TM, Polin RA
Curr Opin Pediatr 2014 Apr;26(2):137-8. doi: 10.1097/MOP.0000000000000079. PMID: 24535493
Neoplasia of early life and its relationships to teratogenesis.
Bolande RP
Perspect Pediatr Pathol 1976;3:145-83. PMID: 184428

Prognosis

Dandy-Walker Malformation.
Society for Maternal-Fetal Medicine (SMFM), Monteagudo A
Am J Obstet Gynecol 2020 Dec;223(6):B38-B41. Epub 2020 Nov 7 doi: 10.1016/j.ajog.2020.08.184. PMID: 33168220
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
Edwards' syndrome.
Crawford D, Dearmun A
Nurs Child Young People 2016 Dec 8;28(10):17. doi: 10.7748/ncyp.28.10.17.s19. PMID: 27927129
Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.
Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA
Rev Paul Pediatr 2013 Jan-Mar;31(1):111-20. doi: 10.1590/s0103-05822013000100018. PMID: 23703053
The trisomy 18 syndrome.
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Clinical prediction guides

Human Genetics of Ventricular Septal Defect.
Perrot A, Rickert-Sperling S
Adv Exp Med Biol 2024;1441:505-534. doi: 10.1007/978-3-031-44087-8_27. PMID: 38884729
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.
van der Meij KRM, Sistermans EA, Macville MVE, Stevens SJC, Bax CJ, Bekker MN, Bilardo CM, Boon EMJ, Boter M, Diderich KEM, de Die-Smulders CEM, Duin LK, Faas BHW, Feenstra I, Haak MC, Hoffer MJV, den Hollander NS, Hollink IHIM, Jehee FS, Knapen MFCM, Kooper AJA, van Langen IM, Lichtenbelt KD, Linskens IH, van Maarle MC, Oepkes D, Pieters MJ, Schuring-Blom GH, Sikkel E, Sikkema-Raddatz B, Smeets DFCM, Srebniak MI, Suijkerbuijk RF, Tan-Sindhunata GM, van der Ven AJEM, van Zelderen-Bhola SL, Henneman L, Galjaard RH, Van Opstal D, Weiss MM; Dutch NIPT Consortium
Am J Hum Genet 2019 Dec 5;105(6):1091-1101. Epub 2019 Nov 7 doi: 10.1016/j.ajhg.2019.10.005. PMID: 31708118Free PMC Article
National population-based estimates for major birth defects, 2010-2014.
Mai CT, Isenburg JL, Canfield MA, Meyer RE, Correa A, Alverson CJ, Lupo PJ, Riehle-Colarusso T, Cho SJ, Aggarwal D, Kirby RS; National Birth Defects Prevention Network
Birth Defects Res 2019 Nov 1;111(18):1420-1435. Epub 2019 Oct 3 doi: 10.1002/bdr2.1589. PMID: 31580536Free PMC Article
Trisomy 18: review of the clinical, etiologic, prognostic, and ethical aspects.
Rosa RF, Rosa RC, Zen PR, Graziadio C, Paskulin GA
Rev Paul Pediatr 2013 Jan-Mar;31(1):111-20. doi: 10.1590/s0103-05822013000100018. PMID: 23703053
Outcomes for fetal echogenic bowel during the second trimester ultrasound.
Iruretagoyena JI, Bankowsky H, Heiser T, Birkeland L, Grady M, Shah D
J Matern Fetal Neonatal Med 2010 Nov;23(11):1271-3. doi: 10.3109/14767050903551442. PMID: 20059439

Recent systematic reviews

Systematic evidence-based review: The application of noninvasive prenatal screening using cell-free DNA in general-risk pregnancies.
Rose NC, Barrie ES, Malinowski J, Jenkins GP, McClain MR, LaGrave D, Leung ML; ACMG Professional Practice and Guidelines Committee. Electronic address: [email protected]
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
Fetal megacystis: A systematic review.
Taghavi K, Sharpe C, Stringer MD
J Pediatr Urol 2017 Feb;13(1):7-15. Epub 2016 Oct 8 doi: 10.1016/j.jpurol.2016.09.003. PMID: 27889224
A tumor profile in Edwards syndrome (trisomy 18).
Satgé D, Nishi M, Sirvent N, Vekemans M
Am J Med Genet C Semin Med Genet 2016 Sep;172(3):296-306. Epub 2016 Jul 30 doi: 10.1002/ajmg.c.31511. PMID: 27474103
Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis.
Taylor-Phillips S, Freeman K, Geppert J, Agbebiyi A, Uthman OA, Madan J, Clarke A, Quenby S, Clarke A
BMJ Open 2016 Jan 18;6(1):e010002. doi: 10.1136/bmjopen-2015-010002. PMID: 26781507Free PMC Article
Systematic review of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using free fetal DNA in maternal plasma.
Yang H, Xu HB, Liu TT, He XL
Genet Mol Res 2015 Sep 9;14(3):10603-8. doi: 10.4238/2015.September.9.1. PMID: 26400291

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    Curated

    • ACMG ACT, 2021
      American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 18: Positive Cell Free DNA Screen, 2021

    Reviews

    Related information

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    • GTR
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      Clinical tests in GTR
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      Related information in PubMed Central Links
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