Trisomy 13.
Pereira EM.
Pediatr Rev. 2023 Jan 1;44(1):53-54. doi: 10.1542/pir.2022-005517.
A tumor profile in Patau syndrome (trisomy 13).
Satgé D, Nishi M, Sirvent N, Vekemans M, Chenard MP, Barnes A.
Am J Med Genet A. 2017 Aug;173(8):2088-2096. doi: 10.1002/ajmg.a.38294. Epub 2017 May 25.
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. doi: 10.1002/ajmg.a.61365. Epub 2019 Sep 30.
Non-invasive prenatal testing.
Harraway J.
Aust Fam Physician. 2017 Oct;46(10):735-739.
Trisomy 13 mosaicism.
Cammarata-Scalisi F, Araque D, Ramírez R, Guaran L, Silva GD.
Bol Med Hosp Infant Mex. 2019;76(5):246-250. doi: 10.24875/BMHIM.19000003.
Holoprosencephaly in Patau Syndrome.
Schlosser AS, Costa GJC, Silva HSD, Mello JLM, Gomes LO, Onoyama MMO, Costa TMC.
Rev Paul Pediatr. 2023 Mar 13;41:e2022027. doi: 10.1590/1984-0462/2023/41/2022027. eCollection 2023.
Evidence for the Oocyte Mosaicism Selection model on the origin of Patau syndrome (trisomy 13).
Babay LÉ, Horányi D, Győrffy B, Nagy GR.
Acta Obstet Gynecol Scand. 2019 Dec;98(12):1558-1564. doi: 10.1111/aogs.13694. Epub 2019 Aug 29.
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. doi: 10.1016/j.gim.2022.03.019. Epub 2022 May 24.
Trisomies.
Levy PA, Marion R.
Pediatr Rev. 2018 Feb;39(2):104-106. doi: 10.1542/pir.2016-0198.
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. doi: 10.1016/j.ajhg.2019.10.005. Epub 2019 Nov 7.
