title: Placental abnormalities detected by ultrasonography in a case of confined placental mosaicism for trisomy 2 with severe fetal growth restriction.
abstract: Clinical outcome of confined placental mosaicism (CPM) is varied, from normal pregnancy to intrauterine fetal death. It has been suggested that CPM for trisomy 2 is less likely to cause serious adverse effect on pregnancy. We hereby report a case of CPM for trisomy 2, which presented severe fetal growth restriction (FGR) and placental abnormalities. A 30-year-old woman was referred to our hospital at 17⁺² weeks because of marked FGR. Ultrasonography demonstrated prominent placental hypertrophy with multiple focal defects without any fetal structural abnormalities. Amniocentesis at 18⁺³ weeks revealed normal karyotype. Fetal growth rate worsened with gestational weeks, reaching -7 standard deviation at 36 weeks. At 37 weeks, the fetal condition suddenly deteriorated, ending in a stillbirth of a 756-g female baby. Postnatal cytogenetic analysis by array comparative genomic hybridization revealed trisomy 2 of the chorionic villi, and CPM for trisomy 2 was suggested as the cause of FGR and placental abnormalities.
authors.affiliation: Department of Obstetrics and Gynecology, The University of Tokyo Hospital, Tokyo, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Nagamatsu
authors.forename: Yoshimasa
authors.initials: Y
authors.lastname: Kamei
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yamashita
authors.forename: Tomoyuki
authors.initials: T
authors.lastname: Fujii
authors.forename: Shiro
authors.initials: S
authors.lastname: Kozuma
mesh_terms: D000328:Adult; D002889:Chromosomes, Human, Pair 2; D005260:Female; D047109:Fetal Development; D005317:Fetal Growth Retardation / Q000209:etiology*; D006801:Humans; D006984:Hypertrophy; D009030:Mosaicism; D010920:Placenta / Q000000981:diagnostic imaging* / Q000473:pathology; D010922:Placenta Diseases / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010929:Placentation; D011247:Pregnancy; D012720:Severity of Illness Index; D050497:Stillbirth; D014314:Trisomy; D014463:Ultrasonography
keywords: array comparative genomic hybridization; confined placental mosaicism; fetal growth restriction; trisomy 2; ultrasound