Prenatal diagnosis of sporadic Apert syndrome: a sequential diagnostic approach combining three-dimensional computed tomography and molecular biology.
Apert syndrome is characterized by coronal craniosynostosis, midfacial hypoplasia, symmetrical syndactyly of the hands and feet described as 'mitten-like' with varying degrees of mental retardation. It results from a mutation of the fibroblast growth factor-2 (FGFR2) gene. In the absence of a family history, prenatal diagnosis may be difficult based on sonography alone. We report a case in which the prenatal diagnosis of Apert syndrome was suspected by ultrasonography, established by three-dimensional computed tomography scan (3DTS) and confirmed by the detection of a mutation on amniotic cells. This underscores the usefulness of a sequential diagnostic approach combining 3DTS and molecular biology in cases in which sonography alone is not con- clusive.
Mahieu-Caputo
D
D
Department of Obstetrics and Fetal Medicine, Hôpital Necker-Enfants-Malades and University Paris V, France. dominique.mahieu@nck.ap-hop-paris.fr
Sonigo
P
P
Amiel
J
J
Simon
I
I
Aubry
M C
MC
Lemerrer
M
M
Delezoïde
A L
AL
Gigarel
N
N
Dommergues
M
M
Dumez
Y
Y
D000168:Acrocephalosyndactylia / Q000000981:diagnostic imaging* / Q000235:genetics; D000328:Adult; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense / Q000235:genetics; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D014057:Tomography, X-Ray Computed / Q000379:methods*