Psychological consequences of prenatal diagnosis in a case of familial Angelman Syndrome

Daniela Turchetti, Elisabetta Razzaboni, Hila Zomer, Cesare Rossi, Simona Ferrari, Donatella Greco, Claudio Graziano, Giovanni Romeo, Marco Seri

Research output: Contribution to journalArticlepeer-review


Angelman Syndrome (AS), characterized by mental retardation, absence of speech, seizures and motor dysfunction, is caused by genetic defects leading to loss of expression of the maternal copy of the chromosome 15q11-13 imprinted region. Most cases are sporadic, being caused by de novo deletion of maternal chromosome 15q11-13 (75%) or by paternal uniparental disomy (3-4%). Familial cases can occur, due to mutations in the UBE3A gene or in the imprinting center. We describe the case of a pregnant woman having two nephews with AS caused by a UBE3A mutation; lack of communication within the family led the woman to be completely unaware of the risk of disease recurrence until 15 weeks of gestation. UBE3A genetic-testing revealed she carried the familial mutation 892-893delCT. Prenatal diagnosis was performed on amniotic fluid and demonstrated that the fetus had inherited the mutation. The unexpected diagnosis and the subsequent termination of the pregnancy caused the woman to undergo acute psychological distress showing relevant psychopathological symptoms. Nevertheless, at 2-year follow-up, adverse consequences were minimized, and the couple was planning a new pregnancy. Factors affecting the psychological outcome of abortion and the role of psychological support in reducing the risk of long-term unfavorable consequences are discussed.

Original languageEnglish
Pages (from-to)1156-1159
Number of pages4
JournalPrenatal Diagnosis
Issue number12
Publication statusPublished - Dec 2006


  • Angelman Syndrome
  • Prenatal diagnosis
  • Psychological outcome
  • Termination of pregnancy
  • UBE3A gene

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology


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