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Fetal Diagn Ther ; 19(5): 421-30, 2004.
Article in English | MEDLINE | ID: mdl-15305099

ABSTRACT

This multicentric study presents 6 cases of Wolf-Hirschhorn syndrome (deletion of 4p) detected after a sonographic prenatal diagnosis of early intrauterine growth retardation with fetal abnormalities. Standard karyotyping on regular G-banding during pregnancy was normal in half of the cases. Fortunately, the associated sonographic signs of a typical face, cystic cerebral lesions, midline fusion defects and bilateral renal hypoplasia may help to refine specific indications for high-resolution banding and molecular analysis by in situ hybridization.


Subject(s)
Abnormalities, Multiple/diagnostic imaging , Abnormalities, Multiple/genetics , Chromosome Deletion , Chromosomes, Human, Pair 4/genetics , Adult , Brain/abnormalities , Craniofacial Abnormalities/diagnostic imaging , Craniofacial Abnormalities/genetics , Female , Fetal Growth Retardation/diagnostic imaging , Fetal Growth Retardation/genetics , Heart Defects, Congenital/genetics , Humans , In Situ Hybridization, Fluorescence , Infant , Infant, Newborn , Karyotyping , Kidney/abnormalities , Kidney/diagnostic imaging , Pregnancy , Syndrome , Ultrasonography, Prenatal
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