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F106Prenatal diagnosis of syndromic and nonsyndromic craniosynotosis by ultrasound
Author(s) -
Bernard J.P.,
Delahaye S.,
Senat M.V.,
De Keersmaecker B.,
Renier D.,
Ville Y.
Publication year - 2000
Publication title -
ultrasound in obstetrics and gynecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.202
H-Index - 141
eISSN - 1469-0705
pISSN - 0960-7692
DOI - 10.1046/j.1469-0705.2000.00015-1-105.x
Subject(s) - craniosynostosis , medicine , skull , synostosis , abnormality , fibrous joint , crouzon syndrome , craniosynostoses , prenatal diagnosis , fetus , ultrasound , surgery , radiology , pregnancy , psychiatry , biology , genetics
Background Prenatal diagnosis of cranyosynostosis are rare. Most of them are syndromic synsostosis (Apert, Crouzon.) and ultrasound diagnosis is done on associated lesions. Very few publications described nonsyndromic craniosynostosis and the diagnosis is made on skull deformation. Some animal experimentations have proven that synostosis have different sonographic features than normal sutures. Material For 5 years we examined 32 fetuses, referred in our institution with a high risk of craniosynostosis. Some because of a family history of previous craniosynostosis, others because of an abnormality of the cephalic index or skull deformations. The diagnosis of craniosynostosis was only made when the sutures seemed abnormal. Results Nine fetuses had a very high risk of craniosynostosis secondary to a previous autosomic craniosynostosis. In 5 of them, the sonographic appearance of the suture was abnormal and the newborn presented a recurrent craniosynostosis. In 4 of them, the sonographic appearance of the sutures was normal and the newborn were healthy. Twenty‐three fetuses had an increased risk of craniosynostotsis secondary to the appearance or biometry of the skull on the routine second trimester scan. In 20 of them, sutures were normal and newborns were healthy. Three fetuses presented abnormal sonographic features, two of them presented a craniosynostosis, however, one was a healthy newborn. Conclusion Ultrasound seems to be a very good tool for the diagnosis of craniosynostosis even isolated in a very high risk population (risk of 1/2). In lower risk the negative predictive value can be used to rassure parents when the biometry or the appearance of the skull seems abnormal.