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Lookup NU author(s): Dr John Wolstenholme,
Dr Stephen Sturgiss,
Professor Judith Goodship
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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. Copyright © 2001 John Wiley & Sons, Ltd.
Author(s): Goodship JA; Sturgiss S; Wolstenholme J; White I; Carter J; Plant N
Publication type: Article
Publication status: Published
Journal: Prenatal Diagnosis
ISSN (print): 0197-3851
ISSN (electronic): 1097-0223
Publisher: John Wiley & Sons
PubMed id: 11746120
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