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Maternal hyperthermia induced birth defects

MedGen UID:
1631447
Concept ID:
C4707329
Congenital Abnormality
Synonyms: Birth defect due to maternal hyperthermia; hyperthermia induced defects; Maternal hyperthermia induced birth defect; maternal hyperthermia induced birth defects; Maternal hyperthermia-induced birth defects
SNOMED CT: Maternal hyperthermia induced birth defect (765138001); Birth defect due to maternal hyperthermia (765138001)
 
Monarch Initiative: MONDO:0016378
Orphanet: ORPHA2216

Definition

A rare maternal disease-related embryofetopathy with characteristics of variable developmental anomalies of the fetus due to teratogenic effect of elevated maternal body temperature (resulting from febrile illness or hot environment exposure). Reported developmental anomalies include neural tube defects (spina bifida, encephalocele, anencephaly), cardiac defects (transposition of great vessels), urogenital defects (hypospadias), abdominal wall defects, cleft lip/palate, eye defects (cataract, coloboma) or various minor anomalies (for example bifid uvula, preauricular pit or tag). Consensus regarding cause and effect relationship has not been reached. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMaternal hyperthermia induced birth defects

Recent clinical studies

Etiology

Graham JM Jr
Birth Defects Res 2020 Jul 15;112(12):943-952. doi: 10.1002/bdr2.1696. PMID: 32686349
Davenport MH, Yoo C, Mottola MF, Poitras VJ, Jaramillo Garcia A, Gray CE, Barrowman N, Davies GA, Kathol A, Skow RJ, Meah VL, Riske L, Sobierajski F, James M, Nagpal TS, Marchand AA, Slater LG, Adamo KB, Barakat R, Ruchat SM
Br J Sports Med 2019 Jan;53(2):116-123. Epub 2018 Oct 18 doi: 10.1136/bjsports-2018-099653. PMID: 30337347
Sass L, Urhoj SK, Kjærgaard J, Dreier JW, Strandberg-Larsen K, Nybo Andersen AM
BMC Pregnancy Childbirth 2017 Dec 8;17(1):413. doi: 10.1186/s12884-017-1585-0. PMID: 29221468Free PMC Article
Padmanabhan R
Congenit Anom (Kyoto) 2006 Jun;46(2):55-67. doi: 10.1111/j.1741-4520.2006.00104.x. PMID: 16732763
McMurray RG, Katz VL
Sports Med 1990 Sep;10(3):146-58. doi: 10.2165/00007256-199010030-00002. PMID: 2237032

Diagnosis

Gu B, Carstens KE, Judson MC, Dalton KA, Rougié M, Clark EP, Dudek SM, Philpot BD
J Clin Invest 2019 Jan 2;129(1):163-168. Epub 2018 Nov 19 doi: 10.1172/JCI120816. PMID: 30352049Free PMC Article
Sass L, Urhoj SK, Kjærgaard J, Dreier JW, Strandberg-Larsen K, Nybo Andersen AM
BMC Pregnancy Childbirth 2017 Dec 8;17(1):413. doi: 10.1186/s12884-017-1585-0. PMID: 29221468Free PMC Article
Hasegawa A, Hanaoka M, Murakoshi T
J Med Ultrason (2001) 2017 Jul;44(3):271-273. Epub 2016 Dec 16 doi: 10.1007/s10396-016-0766-1. PMID: 27987045

Therapy

Davenport MH, Yoo C, Mottola MF, Poitras VJ, Jaramillo Garcia A, Gray CE, Barrowman N, Davies GA, Kathol A, Skow RJ, Meah VL, Riske L, Sobierajski F, James M, Nagpal TS, Marchand AA, Slater LG, Adamo KB, Barakat R, Ruchat SM
Br J Sports Med 2019 Jan;53(2):116-123. Epub 2018 Oct 18 doi: 10.1136/bjsports-2018-099653. PMID: 30337347
Zhang J, Chen FZ, Gao Q, Sun JH, Tian GP, Gao YM
Birth Defects Res A Clin Mol Teratol 2012 Jan;94(1):16-21. Epub 2011 Sep 22 doi: 10.1002/bdra.22852. PMID: 21954174
Lancaster PA
Congenit Anom (Kyoto) 2011 Mar;51(1):2-5. doi: 10.1111/j.1741-4520.2010.00311.x. PMID: 21158952
Padmanabhan R
Congenit Anom (Kyoto) 2006 Jun;46(2):55-67. doi: 10.1111/j.1741-4520.2006.00104.x. PMID: 16732763
Saxén L, Holmberg PC, Nurminen M, Kuosma E
Teratology 1982 Jun;25(3):309-13. doi: 10.1002/tera.1420250307. PMID: 7112434

Prognosis

Hasegawa A, Hanaoka M, Murakoshi T
J Med Ultrason (2001) 2017 Jul;44(3):271-273. Epub 2016 Dec 16 doi: 10.1007/s10396-016-0766-1. PMID: 27987045

Clinical prediction guides

Davenport MH, Yoo C, Mottola MF, Poitras VJ, Jaramillo Garcia A, Gray CE, Barrowman N, Davies GA, Kathol A, Skow RJ, Meah VL, Riske L, Sobierajski F, James M, Nagpal TS, Marchand AA, Slater LG, Adamo KB, Barakat R, Ruchat SM
Br J Sports Med 2019 Jan;53(2):116-123. Epub 2018 Oct 18 doi: 10.1136/bjsports-2018-099653. PMID: 30337347
Suarez L, Felkner M, Hendricks K
Birth Defects Res A Clin Mol Teratol 2004 Oct;70(10):815-9. doi: 10.1002/bdra.20077. PMID: 15468073
Martínez-Frías ML, García Mazario MJ, Caldas CF, Conejero Gallego MP, Bermejo E, Rodríguez-Pinilla E
Am J Med Genet 2001 Jan 15;98(2):201-3. doi: 10.1002/1096-8628(20010115)98:2<201::aid-ajmg1031>3.0.co;2-p. PMID: 11223858
Saxén L, Holmberg PC, Nurminen M, Kuosma E
Teratology 1982 Jun;25(3):309-13. doi: 10.1002/tera.1420250307. PMID: 7112434

Recent systematic reviews

Davenport MH, Yoo C, Mottola MF, Poitras VJ, Jaramillo Garcia A, Gray CE, Barrowman N, Davies GA, Kathol A, Skow RJ, Meah VL, Riske L, Sobierajski F, James M, Nagpal TS, Marchand AA, Slater LG, Adamo KB, Barakat R, Ruchat SM
Br J Sports Med 2019 Jan;53(2):116-123. Epub 2018 Oct 18 doi: 10.1136/bjsports-2018-099653. PMID: 30337347

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