title: Clinical outcome of infants with confined placental mosaicism and intrauterine growth restriction of unknown cause.
abstract: The purpose of this study was to know a role of confined placental mosaicism (CPM) in perinatal outcome and postnatal growth and development of infants with intrauterine growth restriction (IUGR). We selected 50 infants with IUGR (<-2.0 SD) from 3,257 deliveries in a regional medical center during the past 10-year period, and carried out cytogenetic and molecular analyses in their placenta and cord blood. Of the 50 infants, 8 had CPM (CPM group) and were composed of five single (CPM2, 7, 13, 22, and 22), one double (CPM7/13), and one quadruple trisomy (CPM2/7/15/20), and one partial monosomy [del(2)(p16)]. The origin of an extra chromosome of trisomy was maternal in six cases of CPM, paternal in one, and undetermined in one. Uniparental disomy in disomic cell lines was ruled out in all these mosaics. We also compared clinical parameters for perinatal outcome between CPM group and infants without evidence of CPM (non-CPM group), such as maternal and gestational age, birth weight, Apgar score, cord blood pH, gender, and uterine artery patterns by Doppler ultrasonography, as well as weight, height, and developmental quotient (DQ) by Denver Developmental Screening Test at age 12 months. Phenotypic abnormalities were noted in two infants with CPM and three infants of non-CPM group: One with CPM22 had ASD and hypospadias, one with CPM7/13 had Russell-Silver syndrome (RSS), and one without CPM had polydactyly, and two without CPM had RSS. All but one infant with CPM are alive at age 12 months. Among the clinical parameters, the detection rate of a notch waveform pattern of the uterine artery was significantly higher in the CPM group (P < 0.05). However, no significant difference was noted in perinatal outcome of pregnancy and in DQ at age 12 months between the two groups. Interestingly, short stature (<-2 SD) at age 12 months was more frequently seen in CPM group (7/8 infants with CPM vs. 8/15 infants without CPM), although no statistically significant difference was obtained. The information obtained will be useful for perinatal care and genetic counseling for infants with IUGR and CPM.
authors.affiliation: Department of Obstetrics and Gynecology, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors.forename: Kiyonori
authors.initials: K
authors.lastname: Miura
authors.forename: Koh-Ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.forename: Shoko
authors.initials: S
authors.lastname: Miura
authors.forename: Tatsuro
authors.initials: T
authors.lastname: Kondoh
authors.forename: Naoki
authors.initials: N
authors.lastname: Harada
authors.forename: Kentaro
authors.initials: K
authors.lastname: Yamasaki
authors.forename: Yoko
authors.initials: Y
authors.lastname: Fujimoto
authors.forename: Yoko
authors.initials: Y
authors.lastname: Yamasaki
authors.forename: Terumi
authors.initials: T
authors.lastname: Tanigawa
authors.forename: Yuriko
authors.initials: Y
authors.lastname: Kitajima
authors.forename: Takako
authors.initials: T
authors.lastname: Shimada
authors.forename: Atsushi
authors.initials: A
authors.lastname: Yoshida
authors.forename: Daisuke
authors.initials: D
authors.lastname: Nakayama
authors.forename: Masato
authors.initials: M
authors.lastname: Tagawa
authors.forename: Shuichiro
authors.initials: S
authors.lastname: Yoshimura
authors.forename: Joseph
authors.initials: J
authors.lastname: Wagstaff
authors.forename: Yoshihiro
authors.initials: Y
authors.lastname: Jinno
authors.forename: Tadayuki
authors.initials: T
authors.lastname: Ishimaru
authors.forename: Norio
authors.initials: N
authors.lastname: Niikawa
authors.forename: Hideaki
authors.initials: H
authors.lastname: Masuzaki
mesh_terms: D000328:Adult; D005260:Female; D005317:Fetal Growth Retardation / Q000175:diagnosis* / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D010920:Placenta / Q000648:ultrastructure*; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis; D012189:Retrospective Studies; D014314:Trisomy