Diagnostic outcomes of 27 children referred by pediatricians to a genetics clinic in the Netherlands with suspicion of fetal alcohol spectrum disorders

Nadia Abdelmalik, Mieke van Haelst, Grazia Mancini, Connie Schrander-Stumpel, Dominique Marcus-Soekarman, Raoul Hennekam, Jan Maarten Cobben

Research output: Contribution to journalArticleAcademicpeer-review

13 Citations (Scopus)


The characteristics of fetal alcohol spectrum disorders (FASD) constitute a specific facial phenotype, growth failure and neurodevelopmental defects. Reported FASD prevalences vary widely from 0.08 per 1,000 up to 68.0-89.2 per 1,000. We aimed to evaluate to which extent children referred with a suspicion of FASD, indeed have FASD. We included all 27 children referred to our genetic department with a suspicion of FASD between 2005 and 2010. Nineteen children (70.3%) were of non-Dutch ancestry, and 24 (88.9%) had been adopted. We used both the 4-Digit Code and the Revised Institute of Medicine criteria. More than half of the children did not meet either criteria for the diagnosis of FASD. Of note, after evaluation 8/27 children appeared not to have confirmed prenatal alcohol exposure. Two children referred for suspicion of FASD (neither of which were exposed to alcohol or met the criteria for FASD) had a pathogenic microstructural chromosomal rearrangement (del16p11.2 of 542 KB and dup1q44 of 915 KB). In 22/24 children (91.7%) there were other factors that may have affected their intellectual abilities, such as familial intellectual disability and social deprivation. We recommend a critical approach towards the diagnosis FASD, and to investigate all patients suspected to have FASD for other causative factors including genetic abnormalities.

Original languageEnglish
Pages (from-to)254-60
Number of pages7
JournalAmerican Journal of Medical Genetics Part A
Issue number2
Publication statusPublished - Feb 2013


  • Abnormalities, Multiple/diagnosis
  • Adolescent
  • Child
  • Child, Preschool
  • Comparative Genomic Hybridization
  • Female
  • Fetal Alcohol Spectrum Disorders/diagnosis
  • Genetic Testing
  • Humans
  • Infant
  • Male
  • Molecular Diagnostic Techniques
  • Netherlands/epidemiology
  • Poland/ethnology
  • Pregnancy
  • Prevalence
  • Referral and Consultation
  • Risk Factors

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