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Complete trisomy 13 syndrome(T13)

MedGen UID:
56261
•Concept ID:
C0152095
•
Disease or Syndrome
Synonyms: Chromosome 13, trisomy 13 complete; D trisomy syndrome (formerly); Patau syndrome; T13; Trisomy 13
SNOMED CT: Complete trisomy 13 syndrome (21111006); Patau syndrome (21111006); D>1< trisomy syndrome (21111006)
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:0018068
Orphanet: ORPHA3378

Definition

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year. [from MedlinePlus Genetics]

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
Management options and parental voice in the treatment of trisomy 13 and 18.
Pyle AK, Fleischman AR, Hardart G, Mercurio MR
J Perinatol 2018 Sep;38(9):1135-1143. Epub 2018 Jul 6 doi: 10.1038/s41372-018-0151-6. PMID: 29977011
ISUOG updated consensus statement on the impact of cfDNA aneuploidy testing on screening policies and prenatal ultrasound practice.
Salomon LJ, Alfirevic Z, Audibert F, Kagan KO, Paladini D, Yeo G, Raine-Fenning N; ISUOG Clinical Standards Committee
Ultrasound Obstet Gynecol 2017 Jun;49(6):815-816. doi: 10.1002/uog.17483. PMID: 28573775

Curated

American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 13: Positive Cell Free DNA Screen, 2020

Recent clinical studies

Etiology

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: documents@acmg.net
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
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
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
Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies.
Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, Zhu Z, Lin M, Liu Q, Tian Z, Zhang H, Chen F, Lau TK, Zhao L, Yi X, Yin Y, Wang W
Ultrasound Obstet Gynecol 2015 May;45(5):530-8. Epub 2015 Apr 8 doi: 10.1002/uog.14792. PMID: 25598039
Maternal serum analyte screening for fetal aneuploidy.
Chasen ST
Clin Obstet Gynecol 2014 Mar;57(1):182-8. doi: 10.1097/GRF.0000000000000017. PMID: 24488056

Diagnosis

Trisomy 13.
Pereira EM
Pediatr Rev 2023 Jan 1;44(1):53-54. doi: 10.1542/pir.2022-005517. PMID: 36587017
Interdisciplinary care of children with trisomy 13 and 18.
Weaver MS, Anderson V, Beck J, Delaney JW, Ellis C, Fletcher S, Hammel J, Haney S, Macfadyen A, Norton B, Rickard M, Robinson JA, Sewell R, Starr L, Birge ND
Am J Med Genet A 2021 Mar;185(3):966-977. Epub 2020 Dec 31 doi: 10.1002/ajmg.a.62051. PMID: 33381915
Polydactyly.
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
Non-invasive prenatal testing.
Harraway J
Aust Fam Physician 2017 Oct;46(10):735-739. PMID: 29036772
Pseudo-trisomy 13 syndrome.
Cohen MM Jr, Gorlin RJ
Am J Med Genet 1991 Jun 1;39(3):332-5; discussion 336-7. doi: 10.1002/ajmg.1320390316. PMID: 1867286

Therapy

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21.
Pandya P, Levy B, Sistermans EA
Prenat Diagn 2024 Apr;44(4):381-388. Epub 2023 Dec 4 doi: 10.1002/pd.6477. PMID: 38047733
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
The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis.
Acreman ML, Bussolaro S, Raymond YC, Fantasia I, Rolnik DL, Da Silva Costa F
Am J Obstet Gynecol 2023 Mar;228(3):292-305.e6. Epub 2022 Aug 24 doi: 10.1016/j.ajog.2022.08.034. PMID: 36027954
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: documents@acmg.net
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

Prognosis

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
Polydactyly.
Society for Maternal-Fetal Medicine, Rac MWF, McKinney J, Gandhi M
Am J Obstet Gynecol 2019 Dec;221(6):B13-B15. doi: 10.1016/j.ajog.2019.09.023. PMID: 31787158
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
Trisomy 13 and 18-Prevalence and mortality-A multi-registry population based analysis.
Goel N, Morris JK, Tucker D, de Walle HEK, Bakker MK, Kancherla V, Marengo L, Canfield MA, Kallen K, Lelong N, Camelo JL, Stallings EB, Jones AM, Nance A, Huynh MP, Martínez-Fernández ML, Sipek A, Pierini A, Nembhard WN, Goetz D, Rissmann A, Groisman B, Luna-Muñoz L, Szabova E, Lapchenko S, Zarante I, Hurtado-Villa P, Martinez LE, Tagliabue G, Landau D, Gatt M, Dastgiri S, Morgan M
Am J Med Genet A 2019 Dec;179(12):2382-2392. Epub 2019 Sep 30 doi: 10.1002/ajmg.a.61365. PMID: 31566869Free PMC Article
Common genetic and epigenetic syndromes.
Adams DJ, Clark DA
Pediatr Clin North Am 2015 Apr;62(2):411-26. Epub 2015 Jan 22 doi: 10.1016/j.pcl.2014.11.005. PMID: 25836705

Clinical prediction guides

Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21.
Pandya P, Levy B, Sistermans EA
Prenat Diagn 2024 Apr;44(4):381-388. Epub 2023 Dec 4 doi: 10.1002/pd.6477. PMID: 38047733
Cochlear Implantation in a Child with Patau Syndrome.
Çolpan B, Ulusoy B
J Int Adv Otol 2022 Nov;18(6):541-543. doi: 10.5152/iao.2022.20074. PMID: 36349678Free PMC Article
Non-invasive prenatal testing for aneuploidy screening.
Spencer R, Hewitt H, McCarthy L, Wimalasundera R, Pandya P
BMJ 2020 Oct 27;371:m3930. doi: 10.1136/bmj.m3930. PMID: 33109517
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

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
The predictive value of prenatal cell-free DNA testing for rare autosomal trisomies: a systematic review and meta-analysis.
Acreman ML, Bussolaro S, Raymond YC, Fantasia I, Rolnik DL, Da Silva Costa F
Am J Obstet Gynecol 2023 Mar;228(3):292-305.e6. Epub 2022 Aug 24 doi: 10.1016/j.ajog.2022.08.034. PMID: 36027954
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: documents@acmg.net
Genet Med 2022 Jul;24(7):1379-1391. Epub 2022 May 24 doi: 10.1016/j.gim.2022.03.019. PMID: 35608568
Clinical performance of non-invasive prenatal testing for trisomies 21, 18 and 13 in twin pregnancies: A cohort study and a systematic meta-analysis.
He Y, Wang Y, Li Z, Chen H, Deng J, Huang H, He X, Zeng W, Liu M, Huang B, Chen P
Acta Obstet Gynecol Scand 2020 Jun;99(6):731-743. Epub 2020 Apr 9 doi: 10.1111/aogs.13842. PMID: 32166736
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

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    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.

    Curated

    • ACMG ACT, 2020
      American College of Medical Genetics and Genomics Noninvasive Prenatal Screening via Cell-Free DNA ACT Sheet, Trisomy 13: Positive Cell Free DNA Screen, 2020

    Reviews

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      Clinical tests in GTR
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