Valproate embryopathy in three sets of siblings: further proof of hereditary susceptibility

H Malm1, E Kajantie, S Kivirikko

  • 1Teratology Information Service, Department of Medical Genetics, Family Federation of Finland, Helsinki.

Neurology
|August 28, 2002
PubMed

Insights

Fetal valproate syndrome (FVS) may have a hereditary component. In three families, all siblings exposed to valproic acid experienced FVS, suggesting genetic susceptibility to this teratogen.

Area of Science:

  • Medical Genetics
  • Teratology
  • Pediatric Neurology

Background:

  • Fetal valproate syndrome (FVS) presents with distinct facial features, congenital malformations, and developmental delays.
  • Prenatal exposure to valproic acid typically affects only a small percentage of offspring.

Observation:

  • Three families demonstrated FVS in all siblings with prenatal valproic acid exposure.
  • This pattern suggests a potential hereditary predisposition to valproic acid's adverse effects.

Findings:

  • Hereditary susceptibility to valproic acid-induced teratogenicity is indicated by familial FVS occurrence.
  • The risk of recurrence in future pregnancies appears elevated in susceptible families.

Implications:

  • Genetic counseling for parents with prior exposure history is crucial.
  • Consideration of hereditary factors is vital when prescribing valproic acid during pregnancy.
  • Further research into genetic factors influencing FVS is warranted.

Related Concept Videos

Pedigree Analysis02:21

Pedigree Analysis

A pedigree is a diagram displaying a family’s history of a trait. Analyzing pedigrees can reveal (1) whether a trait is dominant or recessive, (2) the type of chromosome, autosomal or sex, a trait is linked to, (3) genotypes of family members, and (4) probabilities of phenotypes in future generations. For families with a history of autosomal or sex-linked diseases, this information can be crucial to family planning.Pedigrees Display Family HistoriesIn various plant and animal species,...
Probability Laws01:49

Probability Laws

Overview
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Pleiotropy01:47

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Teratogenicity01:07

Teratogenicity

The ability of a drug to produce structural deformations and functional abnormalities in the developing embryo or the fetus is called teratogenicity, and the drug producing this effect is known as a teratogen. Teratogenic effects include stillbirth, miscarriage, intrauterine growth restriction, and neurocognitive delay. A teratogen may affect the embryo at different stages of development, which is important in determining the type and extent of the damage. During blastocyst formation, the early...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...