Health and developmental outcome of children following prenatal diagnosis of confined placental mosaicism

• Published in: Prenatal diagnosis 2006-05, Vol.26 (5), p.443-448
• Main Authors: Amor, David J., Neo, Wee Thong, Waters, Elizabeth, Heussler, Helen, Pertile, Mark, Halliday, Jane
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Child; Child, Preschool; chorionic villus sampling; chromosomal mosaicism; Cohort Studies; cohort study; confined placental mosaicism; Congenital Abnormalities - diagnosis; Congenital Abnormalities - epidemiology; Congenital Abnormalities - genetics; Developmental Disabilities - diagnosis; Developmental Disabilities - epidemiology; Developmental Disabilities - genetics; Female; Fetal Growth Retardation - diagnosis; Fetal Growth Retardation - epidemiology; Fetal Growth Retardation - genetics; growth and development; Gynecology. Andrology. Obstetrics; Health Status; Humans; Incidence; Male; Management. Prenatal diagnosis; Medical sciences; Mosaicism; Placenta; Pregnancy; Pregnancy Outcome - epidemiology; Pregnancy Outcome - genetics; Pregnancy. Fetus. Placenta; Prenatal Diagnosis; Retrospective Studies; Risk Factors
• ISSN: 0197-3851; 1097-0223
• DOI: 10.1002/pd.1433

Objective To determine the long‐term health and development of a cohort of children in whom confined placental mosaicism (CPM) was diagnosed at prenatal diagnosis. Methods A retrospective cohort study was performed comparing 36 children in whom CPM had been diagnosed prenatally with 195 controls subjects in whom a normal karyotype had been detected prenatally. Data comprising birth information, health, health service utilisation, growth, development, behaviour, and the family were collected by a maternal questionnaire administered when the subjects were aged between 4 and 11 years. Results CPM cases did not differ from controls across a broad range of health measures and there were no major health problems or birth defects among the CPM group. No increase was detected in the incidence of intrauterine growth retardation (IUGR) among CPM cases; however, postnatal growth was reduced compared with controls (p = 0.047). Development and behaviour in CPM cases was similar to that of controls. Conclusions The prenatal diagnosis of CPM is not associated with an increased risk of birth defects or developmental problems, but may be associated with decreased growth. Copyright © 2006 John Wiley & Sons, Ltd.