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Fetal valproate syndrome(FVS)

MedGen UID:
65922
•Concept ID:
C0236026
•
Disease or Syndrome
Synonyms: Embryofoetal valproic acid syndrome; Valproic acid embryopathy; Valproic acid fetal effects from
SNOMED CT: Fetal valproate syndrome (17231009); Fetal valproate spectrum disorder (17231009)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
•Concept ID:
CN307044
•
Finding
Source: Orphanet
clinical entity without genetic inheritance.
See: This record
Not genetically inherited (Orphanet)
 
Monarch Initiative: MONDO:0012275
OMIM®: 609442
Orphanet: ORPHA1906

Definition

A rare teratogenic disease due to embryo/fetal exposure to valproic acid (VPA) and subsequently characterized by a distinct facial dysmorphism, congenital anomalies and developmental delay (especially in language and communication). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFetal valproate syndrome
Follow this link to review classifications for Fetal valproate syndrome in Orphanet.

Professional guidelines

PubMed

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.
Clayton-Smith J, Bromley R, Dean J, Journel H, Odent S, Wood A, Williams J, Cuthbert V, Hackett L, Aslam N, Malm H, James G, Westbom L, Day R, Ladusans E, Jackson A, Bruce I, Walker R, Sidhu S, Dyer C, Ashworth J, Hindley D, Diaz GA, Rawson M, Turnpenny P
Orphanet J Rare Dis 2019 Jul 19;14(1):180. doi: 10.1186/s13023-019-1064-y. PMID: 31324220Free PMC Article
A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound.
Kennelly MM, Moran P
Prenat Diagn 2007 Aug;27(8):730-7. doi: 10.1002/pd.1770. PMID: 17533626

Recent clinical studies

Etiology

Intellectual functioning in clinically confirmed fetal valproate syndrome.
Bromley RL, Baker GA, Clayton-Smith J, Wood AG
Neurotoxicol Teratol 2019 Jan-Feb;71:16-21. Epub 2018 Nov 16 doi: 10.1016/j.ntt.2018.11.003. PMID: 30453023
Fetal valproate syndrome: the Irish experience.
Mohd Yunos H, Green A
Ir J Med Sci 2018 Nov;187(4):965-968. Epub 2018 Feb 3 doi: 10.1007/s11845-018-1757-6. PMID: 29396778
Fetal Valproate Syndrome - Still a Problem Today!
Wiedemann K, Stüber T, Rehn M, Frieauff E
Z Geburtshilfe Neonatol 2017 Oct;221(5):243-246. Epub 2017 Oct 26 doi: 10.1055/s-0043-107619. PMID: 29073690
Syndromes, disorders and maternal risk factors associated with neural tube defects (I).
Chen CP
Taiwan J Obstet Gynecol 2008 Mar;47(1):1-9. doi: 10.1016/S1028-4559(08)60048-0. PMID: 18400576
Fetal valproate syndrome and autism: additional evidence of an association.
Williams G, King J, Cunningham M, Stephan M, Kerr B, Hersh JH
Dev Med Child Neurol 2001 Mar;43(3):202-6. PMID: 11263692

Diagnosis

Diagnosis and management of individuals with Fetal Valproate Spectrum Disorder; a consensus statement from the European Reference Network for Congenital Malformations and Intellectual Disability.
Clayton-Smith J, Bromley R, Dean J, Journel H, Odent S, Wood A, Williams J, Cuthbert V, Hackett L, Aslam N, Malm H, James G, Westbom L, Day R, Ladusans E, Jackson A, Bruce I, Walker R, Sidhu S, Dyer C, Ashworth J, Hindley D, Diaz GA, Rawson M, Turnpenny P
Orphanet J Rare Dis 2019 Jul 19;14(1):180. doi: 10.1186/s13023-019-1064-y. PMID: 31324220Free PMC Article
Intellectual functioning in clinically confirmed fetal valproate syndrome.
Bromley RL, Baker GA, Clayton-Smith J, Wood AG
Neurotoxicol Teratol 2019 Jan-Feb;71:16-21. Epub 2018 Nov 16 doi: 10.1016/j.ntt.2018.11.003. PMID: 30453023
Fetal valproate syndrome: the Irish experience.
Mohd Yunos H, Green A
Ir J Med Sci 2018 Nov;187(4):965-968. Epub 2018 Feb 3 doi: 10.1007/s11845-018-1757-6. PMID: 29396778
Fetal Valproate Syndrome - Still a Problem Today!
Wiedemann K, Stüber T, Rehn M, Frieauff E
Z Geburtshilfe Neonatol 2017 Oct;221(5):243-246. Epub 2017 Oct 26 doi: 10.1055/s-0043-107619. PMID: 29073690
Prenatal sonographic diagnosis of fetal valproate syndrome: a case report.
Kikuchi N, Ohira S, Asaka R, Tanaka K, Takatsu A, Shiozawa T
J Med Case Rep 2016 Nov 3;10(1):312. doi: 10.1186/s13256-016-1094-1. PMID: 27809899Free PMC Article

Therapy

Intellectual functioning in clinically confirmed fetal valproate syndrome.
Bromley RL, Baker GA, Clayton-Smith J, Wood AG
Neurotoxicol Teratol 2019 Jan-Feb;71:16-21. Epub 2018 Nov 16 doi: 10.1016/j.ntt.2018.11.003. PMID: 30453023
Fetal valproate syndrome: the Irish experience.
Mohd Yunos H, Green A
Ir J Med Sci 2018 Nov;187(4):965-968. Epub 2018 Feb 3 doi: 10.1007/s11845-018-1757-6. PMID: 29396778
Fetal Valproate Syndrome - Still a Problem Today!
Wiedemann K, Stüber T, Rehn M, Frieauff E
Z Geburtshilfe Neonatol 2017 Oct;221(5):243-246. Epub 2017 Oct 26 doi: 10.1055/s-0043-107619. PMID: 29073690
Fetal Valproate Syndrome.
Mutlu-Albayrak H, Bulut C, Çaksen H
Pediatr Neonatol 2017 Apr;58(2):158-164. Epub 2016 Jun 17 doi: 10.1016/j.pedneo.2016.01.009. PMID: 27422007
Fetal valproate syndrome.
Clayton-Smith J, Donnai D
J Med Genet 1995 Sep;32(9):724-7. doi: 10.1136/jmg.32.9.724. PMID: 8544193Free PMC Article

Prognosis

Severe fetal valproate syndrome: combination of complex cardiac defect, multicystic dysplastic kidney, and trigonocephaly.
Ozkan H, Cetinkaya M, Köksal N, Yapici S
J Matern Fetal Neonatal Med 2011 Mar;24(3):521-4. doi: 10.3109/14767058.2010.501120. PMID: 21291342
A clinical algorithm of prenatal diagnosis of Radial Ray Defects with two and three dimensional ultrasound.
Kennelly MM, Moran P
Prenat Diagn 2007 Aug;27(8):730-7. doi: 10.1002/pd.1770. PMID: 17533626
Multiple congenital malformations including generalized hypertrichosis with gum hypertrophy in a child exposed to valproic acid in utero.
Stoll C, Audeoud F, Gaugler C, Bernardin A, Messer J
Genet Couns 2003;14(3):289-98. PMID: 14577673
Fatal cardiac malformation in fetal valproate syndrome.
Sodhi P, Poddar B, Parmar V
Indian J Pediatr 2001 Oct;68(10):989-90. doi: 10.1007/BF02722604. PMID: 11758141
Fetal valproate syndrome and autism: additional evidence of an association.
Williams G, King J, Cunningham M, Stephan M, Kerr B, Hersh JH
Dev Med Child Neurol 2001 Mar;43(3):202-6. PMID: 11263692

Clinical prediction guides

Intellectual functioning in clinically confirmed fetal valproate syndrome.
Bromley RL, Baker GA, Clayton-Smith J, Wood AG
Neurotoxicol Teratol 2019 Jan-Feb;71:16-21. Epub 2018 Nov 16 doi: 10.1016/j.ntt.2018.11.003. PMID: 30453023
Prenatal sonographic diagnosis of fetal valproate syndrome: a case report.
Kikuchi N, Ohira S, Asaka R, Tanaka K, Takatsu A, Shiozawa T
J Med Case Rep 2016 Nov 3;10(1):312. doi: 10.1186/s13256-016-1094-1. PMID: 27809899Free PMC Article
Omphalocele and gastroschisis and associated malformations.
Stoll C, Alembik Y, Dott B, Roth MP
Am J Med Genet A 2008 May 15;146A(10):1280-5. doi: 10.1002/ajmg.a.32297. PMID: 18386803
Ophthalmic findings in fetal anticonvulsant syndrome(s).
Glover SJ, Quinn AG, Barter P, Hart J, Moore SJ, Dean JC, Turnpenny PD
Ophthalmology 2002 May;109(5):942-7. doi: 10.1016/s0161-6420(02)00959-4. PMID: 11986102
The fetal valproate syndrome.
DiLiberti JH, Farndon PA, Dennis NR, Curry CJ
Am J Med Genet 1984 Nov;19(3):473-81. doi: 10.1002/ajmg.1320190308. PMID: 6439041

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