Document Detail

Congenital microcephaly detected by prenatal ultrasound: genetic aspects and clinical significance.
MedLine Citation:
PMID:  10895445     Owner:  NLM     Status:  MEDLINE    
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. DESIGN: 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.
N S den Hollander; M W Wessels; F J Los; N T Ursem; M F Niermeijer; J W Wladimiroff
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology     Volume:  15     ISSN:  0960-7692     ISO Abbreviation:  Ultrasound Obstet Gynecol     Publication Date:  2000 Apr 
Date Detail:
Created Date:  2000-11-20     Completed Date:  2000-11-20     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9108340     Medline TA:  Ultrasound Obstet Gynecol     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  282-7     Citation Subset:  IM    
Department of Obstetrics and Gynaecology, Academic Hospital Rotterdam-Dijkzigt, The Netherlands.
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MeSH Terms
Abnormalities, Multiple / genetics,  ultrasonography
Chromosome Aberrations
Chromosome Disorders
Gestational Age
Microcephaly / complications,  genetics*,  ultrasonography*
Retrospective Studies
Ultrasonography, Prenatal*

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