title: Maternal uniparental heterodisomy for chromosome 2: detection through 'atypical' maternal AFP/hCG levels, with an update on a previous case.
abstract: We report a case of maternal uniparental disomy 2, detected through routine screening of placental karyotypes following the finding of 'atypical' AFP/hCG levels in the second trimester, with intrauterine growth retardation (IUGR) but otherwise normal outcome at term. Although the child remained small, subsequent early physical and mental development has also been normal. Additionally, we report long-term follow-up of an earlier case, again with relatively normal physical and mental development. The significance of atypical AFP/hCG results and the predictive value of prenatal testing for UPD2 in trisomy 2 confined placental mosaicism (CPM) cases are discussed.
authors.affiliation: Northern Genetics Service, University of Newcastle upon Tyne, Newcastle upon Tyne NE2 4AA, UK. john.wolstenholme@ncl.ac.uk
authors.forename: J
authors.initials: J
authors.lastname: Wolstenholme
authors.forename: I
authors.initials: I
authors.lastname: White
authors.forename: S
authors.initials: S
authors.lastname: Sturgiss
authors.forename: J
authors.initials: J
authors.lastname: Carter
authors.forename: N
authors.initials: N
authors.lastname: Plant
authors.forename: J A
authors.initials: JA
authors.lastname: Goodship
mesh_terms: D000328:Adult; D006063:Chorionic Gonadotropin / Q000097:blood*; D002889:Chromosomes, Human, Pair 2; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008875:Middle Aged; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014314:Trisomy; D024182:Uniparental Disomy; D000509:alpha-Fetoproteins / Q000032:analysis*
chemical_list: D006063:Chorionic Gonadotropin; D000509:alpha-Fetoproteins