Craniosynostosis: prenatal diagnosis by 2D/3D ultrasound, magnetic resonance imaging and computed tomography.
Craniosynostosis is defined as the process of premature fusion of one or more of the cranial sutures. It is a common condition that occurs in about 1 to 2,000 live births. Craniosynostosis may be classified in primary or secondary. It is also classified as nonsyndromic or syndromic. According to suture commitment, craniosynostosis may affect a single suture or multiple sutures. There is a wide range of syndromes involving craniosynostosis and the most common are Apert, Pffeifer, Crouzon, Shaethre-Chotzen and Muenke syndromes. The underlying etiology of nonsyndromic craniosynostosis is unknown. Mutations in the fibroblast growth factor (FGF) signalling pathway play a crucial role in the etiology of craniosynostosis syndromes. Prenatal ultrasound`s detection rate of craniosynostosis is low. Nowadays, different methods can be applied for prenatal diagnosis of craniosynostosis, such as two-dimensional (2D) and three-dimensional (3D) ultrasound, magnetic resonance imaging (MRI), computed tomography (CT) scan and, finally, molecular diagnosis. The presence of craniosynostosis may affect the birthing process. Fetuses with craniosynostosis also have higher rates of perinatal complications. In order to avoid the risks of untreated craniosynostosis, children are usually treated surgically soon after postnatal diagnosis.
Department of Obstetrics, Paulista School of Medicine - Federal University of São Paulo, São Paulo-SP, Brazil.
Talita Micheletti
TM
Helfer
Department of Obstetrics, Paulista School of Medicine - Federal University of São Paulo, São Paulo-SP, Brazil.
Alberto Borges
AB
Peixoto
Department of Obstetrics and Gynecology, Guastalla Civil Hospital, AUSL Reggio Emilia, Italy.
Gabriele
G
Tonni
Department of Obstetrics, Paulista School of Medicine - Federal University of São Paulo, São Paulo-SP, Brazil. araujojred@terra.com.br.
Edward
E
Araujo Júnior
D003393:Cranial Sutures / Q000000981:diagnostic imaging; D003398:Craniosynostoses / Q000000981:diagnostic imaging*; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional / Q000379:methods*; D008279:Magnetic Resonance Imaging / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014057:Tomography, X-Ray Computed / Q000379:methods*; D014463:Ultrasonography / Q000379:methods*