Fetal Valproate syndrome

Qu'est-ce que Fetal Valproate syndrome?

This rare disease is a condition that can develop when an unborn baby is exposed to valproic acid or sodium valproate in the first trimester. Sodium valproate is used in a common medication for epilepsy, migraine and bipolar disorder. Not all babies exposed are born affected by the syndrome, but exposure increases the risk.

Exposure to sodium valproate in utero increases the risk of an exposed fetus being born with congenital defects. These can include skull, facial and skeletal abnormalities.

This syndrome is also known as:
Fetal Valproate syndrome; Fvs Valproate

Quelles sont les causes des changements génétiques Fetal Valproate syndrome?

Le syndrome n'est pas causé par des modifications génétiques, il est causé par une exposition à l'acide valproïque ou au valproate de sodium au cours du premier trimestre.

Les causes environnementales ou l'exposition à des facteurs environnementaux externes peuvent parfois contribuer à la cause d'une maladie rare.

Quels sont les principaux symptômes de Fetal Valproate syndrome?

The main symptoms of the syndrome include neural tube defects- the most common being spina bifida in which the bones of the spine do not close properly. Babies exposed to sodium valproate have a 20% higher chance of developing Fetal Valproate syndrome.

Other symptoms include heart defects and musculoskeletal abnormalities. Developmental delay and other behavioral disorders, such as ADD and Autism Spectrum Disorder are also linked to the syndrome.

Babies are also at risk for being born with a cleft lip and palate, a small head, underdeveloped nails, a club foot and softening of the windpipe.

Comment quelqu'un se fait-il tester pour Fetal Valproate syndrome?

Les premiers tests de Fetal Valproate syndrome peut commencer par un dépistage par analyse faciale, en passant par le FDNA Telehealth plateforme de télégénétique, qui permet d'identifier les marqueurs clés de la syndrome et souligner la nécessité de tests supplémentaires. Une consultation avec un conseiller génétique puis un généticien suivra. 

Sur la base de cette consultation clinique avec un généticien, les différentes options pour les tests génétiques seront partagées et le consentement sera recherché pour des tests supplémentaires.

Informations médicales sur Fetal Valproate syndrome

The initial concern about maternal valproate ingestion in pregnancy was the increased frequency of neural tube defects, but a distinctive dysmorphic syndrome is seen in some cases (Clayton-Smith and Donnai, 1995). The proportion of infants affected when mother is on monotherapy is said to lie between 2.5 and 10%, however, risk figures at the lower end of the range where there has not been a previously affected child, would seem to be appropriate (Friedman and Polifka, 1994). Clayton-Smith and Donnai (1995) suggest that where one child has been affected subsequent sibs might have a higher recurrence risk. Christianson et al., (1994) reported two sets of affected siblings. Malm et al., et al., (2002) reported three sets of affected siblings and Schorry et al., (2005) reported 5 half-siblings. Williams and Hersh (1997) reported a case with features of autism and additional evidence of an association by Williams et al., (2001). McMahon and Braddock (2001) reported a case with septo-optic dysplasia. Santos de Oliveira et al., (2006) reported 3 cases with features of Baller-Gerold syndrome ie., radial defects and craniosynostosis. Shah et al., (2014) and Jackson et al., (2014) have reported cases with colobomata.
The craniofacial features consist of brachycephaly with a high forehead, shallow orbits and prominent eyes. The eyebrows are thin, arched or 'neat'. There is said to be an unusual fold of skin below the lower eyelid. The mouth is small, the upper lip long and thin and the lower lip prominent. The face is doll-like, the cheeks full, the chin relatively small and the philtrum well defined (Kini et al., 2006). Limb abnormalities can include postaxial polydactyly (Pandya and Jani 2000), preaxial polydactyly (Buntinx, 1992), radial defects (Verloes et al., 1990; Sharony et al., 1993; Espinasse et al., 1996) and ectrodactyly (Thomas et al., 2005). From an epidemiological study Rodriguez-Pinilla et al., (2000) estimated the risk of a limb abnormality to be 0.42%. Hubert et al., (1994) reported a case with a scalp defect. In one prospective series (Jager-Roman et al., 1986) a major malformation occurred in four out of fourteen cases. The other worrying feature has been the high frequency of fetal distress which seems to occur in just under half of the infants. Overall assessment of all the photographs of affected infants suggests that metopic ridging and a long philtrum with a shallow, but well-formed groove may be characteristic. Boussemart et al., (1995) reported a case with an omphalocele. Barrera et al., (1994) reported an exposed infant with partial hydranencephaly. Mo and Ladusans (1999) reported two cases with an anomalous right pulmonary artery. McMahon and Braddock (2001) reported a case with typical valproate embryopathy who had hypoplasia of the optic chiasm and absence of the septum pellucidum.
Kozma (2001) reported two affected siblings and provide a good review of the literature from 1978 to 2000. The author points out that neural tube defects are seen in 3% of reported cases, 12% of affected children die in infancy, and 29% of surviving patients have developmental deficits/mental retardation. Although 15% of patients have growth retardation, overgrowth can occur in 9%. In the study of Vajda and Eadie, (2005), 1400 mg per day was the cut-off point between a high and low fetal risk of malformation.
Laegreid et al., (1992) suggested that benzodiazepines given with valproate might accentuate the teratogenic effects of the latter. In mice, valproate-induced neural tube defects can be prevented by giving folic acid to the mother.
Dean et al., (1999) studied the incidence of the 677C-> T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene in 57 patients with features of anticonvulsant syndrome whose mothers had taken phenytoin, valproate or carbamazepine. There was a significant difference in 677C-> frequency in the mothers of affected children but not in the children or the fathers.
Faiella et al., (2000) showed that different mouse strains had variable teratogenicity for the effects of valproate. They also showed that the maternal genotype is more strongly associated than the paternal genotype with valproic acid-induced teratogenicity. Many of the malformations caused were homeotic transformations and it was shown that HOX gene expression was altered.
Dean et al., (2002) carried out a retrospective study of 149 mothers taking anti-epileptic drugs during pregnancy. After allowing for the family history, 19% of exposed children and 3 percent of controls had developmental delay. 31% of exposed children had either major malformations or developmental delay. 52% of exposed children had facial dysmorphism compared with 25 percent of those not exposed. The most common 'major malformation' appeared to be an inguinal hernia. The next most common were pyloric stenosis, talipes equinovarus, congenital dislocation of the hip, congenital heart disease and neural tube defects. Phenobarbitone appeared to give the lowest risk of developmental delay.
Dolk and McElhatton (2002), Holmes (2002) and Shorvon (2002) provide good reviews of the epidemiological aspects, teratogenic effects, and medication in pregnancy for anticonvulsant drugs. In a large American study (Wyszynski et al., 2005) found the risk of having an abnormality was 10.7% vs 2.9% in controls.
Information for 29 Irish patients was collected by Mohd-Yunos et. al. (2018). Most patients (76%) were diagnosed before the age of 5 years. Craniofacial features were prominent metopic ridge, midface hypoplasia, epicanthal folds, micrognathia, broad and flat nasal bridge and cleft palate (cleft palate was reported in 38% of the patients).

* This information is courtesy of the L M D.
If you find a mistake or would like to contribute additional information, please email us at: [email protected]

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