Confined placental mosaicism for trisomy 14 and maternal uniparental disomy in association with elevated second trimester maternal serum human chorionic gonadotrophin and third trimester fetal growth restriction

A case of confined placental mosaicism (CPM) and maternal uniparental isodi somy 14 identified after placental karyotype revealed trisomy 14 in a newbo rn with intrauterine growth restriction (IUGR) and minor dysmorphic feature s is reported. During the second trimester of the pregnancy, multiple marke r screening revealed an increased risk for Down syndrome of >1 in 10. The m aternal serum human chorionic gonadotrophin (MShCG) was markedly elevated a t 4.19 MoM. Amniocentesis revealed a normal 46,XX karyotype. Fetal growth r estriction has been associated with elevated MShCG and placental aneuploidy with CPM for chromosomes 2, 7, 9 and 16. The present case of CPM for chrom osome 14 was also associated with fetal growth restriction and elevated sec ond trimester MShCG, suggesting a common link. Further studies need to be d one to determine if indeed elevation of second trimester MShCG is associate d with increased risk of CPM. The present case again demonstrates the need to perform placental karyotype in unexplained fetal growth restriction. Cop yright (C) 2001 John Wiley & Sons, Ltd.