title: Psychological consequences of prenatal diagnosis in a case of familial Angelman syndrome.
abstract: 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.
authors.affiliation: UO di Genetica Medica, Università di Bologna-Policlinico, S.Orsola-Malpighi, Bologna, Italy. danielat@med.unibo.it
authors.forename: Daniela
authors.initials: D
authors.lastname: Turchetti
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Razzaboni
authors.forename: Hila
authors.initials: H
authors.lastname: Zomer
authors.forename: Cesare
authors.initials: C
authors.lastname: Rossi
authors.forename: Simona
authors.initials: S
authors.lastname: Ferrari
authors.forename: Donatella
authors.initials: D
authors.lastname: Greco
authors.forename: Claudio
authors.initials: C
authors.lastname: Graziano
authors.forename: Giovanni
authors.initials: G
authors.lastname: Romeo
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
mesh_terms: D000028:Abortion, Induced / Q000523:psychology; D000328:Adult; D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D005190:Family; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics; D005817:Genetic Counseling; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods / Q000523:psychology*; D013315:Stress, Psychological; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
chemical_list: C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases