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*

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review


The characteristics of fetal acohol 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 68.089.2 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)254-260
JournalAmerican Journal of Medical Genetics Part A
Issue number2
Publication statusPublished - Feb 2013


  • fetal alcohol spectrum disorders
  • fetal alcohol syndrome
  • DNA micro array

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