title: Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance.
abstract: OBJECTIVE
  The aim of this study was to analyze fetuses with prenatally diagnosed microcephaly including the nature of associated anomalies and the genetic-diagnostic implications.
  
  
  METHODS
  Retrospective study design.
  
  
  METHODS
  A total of 30 fetuses with reliable dates and with prenatally diagnosed microcephaly as a common feature were analyzed.
  
  
  RESULTS
  Microcephaly was diagnosed at a mean gestational age of 28 weeks. More than half of the fetuses were also small for gestational age. Five subsets of microcephaly emerged from this study: (1) isolated microcephaly (16.7%); (2) microcephaly due to holoprosencephaly (16.7%); (3) microcephaly associated with chromosomal disorders (23.3%); (4) microcephaly as part of a genetic syndrome (20.0%); and (5) microcephaly as part of multiple anomalies (23.3%).
  
  
  CONCLUSIONS
  In 25 out of 30 infants microcephaly proved to be part of a complex problem, emphasizing the need of a meticulous search for structural anomalies and fetal karyotyping when biometric data are not according to gestational age. The etiologic heterogeneity and variability of microcephaly in genetic syndromes are among the more difficult issues in prenatal ultrasound in pregnancies either with an incidental finding of this anomaly, or in cases with a recurrence risk. The complex situations described in this study demonstrate the importance of follow up, post-mortem investigation and careful genetic counseling.
authors.affiliation: Department of Obstetrics and Gynaecology, Academic Hospital Rotterdam-Dijkzigt, The Netherlands.
authors.forename: N S
authors.initials: NS
authors.lastname: den Hollander
authors.forename: M W
authors.initials: MW
authors.lastname: Wessels
authors.forename: F J
authors.initials: FJ
authors.lastname: Los
authors.forename: N T
authors.initials: NT
authors.lastname: Ursem
authors.forename: M F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: J W
authors.initials: JW
authors.lastname: Wladimiroff
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005865:Gestational Age; D006801:Humans; D007621:Karyotyping; D008831:Microcephaly / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics*; D011247:Pregnancy; D012189:Retrospective Studies; D013577:Syndrome; D016216:Ultrasonography, Prenatal