Is fetal cerebral MRI worthwhile in antenatally diagnosed isolated cleft lip with or without palate?
OBJECTIVE
This study aims to evaluate the use of fetal brain magnetic resonance imaging (MRI) following an antenatal sonographic diagnosis of isolated cleft lip with or without cleft palate (CL/P).


METHODS
This was a retrospective study of 92 fetuses antenatally diagnosed with isolated CL/P on screening ultrasound. All patients underwent expert diagnostic antenatal ultrasound, fetal brain MRI, and karyotype analysis.


RESULTS
Five cases were excluded from the study as associated abnormalities were detected on expert ultrasound: corpus callosum agenesis (n = 1), retrognathism (n = 3), and ectrodactyly (n = 1). Fetal MRI diagnosed unsuspected midline cerebral abnormalities in four out of the 87 remaining cases (4.6%): vermis agenesis (n = 1), isolated arhinencephaly (n = 2), and suspicion of pituitary abnormality (n = 1). All karyotype analyses were normal.


CONCLUSIONS
In CL/P, the incidence of associated cerebral abnormalities overlooked on ultrasound is 4.6%. Careful evaluation of midline structures by expert ultrasound in CL/P is necessary and may be sufficient. MRI can be useful if the US examination is limited or in case of family history. However, the choice to proceed to fetal MRI may vary from institution to institution.
Imagerie Pediatrique, Hopital Robert Debré, Paris, France. marie-noelle.de-milly@rdb.aphp.fr
Marie-Noëlle
MN
de Milly
Marianne
M
Alison
Owen
O
Arthurs
Edith
E
Vuillard
Jean-Francois
JF
Oury
Monique
M
Elmaleh-Berges
Guy
G
Sebag
Nadia
N
Belarbi
D000015:Abnormalities, Multiple; D002526:Cerebellar Diseases / Q000150:complications / Q000175:diagnosis*; D002531:Cerebellum / Q000002:abnormalities; D054022:Cerebrum / Q000002:abnormalities*; D002971:Cleft Lip / Q000150:complications* / Q000000981:diagnostic imaging; D002972:Cleft Palate / Q000150:complications* / Q000000981:diagnostic imaging; D005124:Eye Abnormalities / Q000150:complications / Q000175:diagnosis*; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D016142:Holoprosencephaly / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D052177:Kidney Diseases, Cystic / Q000150:complications / Q000175:diagnosis*; D008279:Magnetic Resonance Imaging; D010902:Pituitary Gland / Q000002:abnormalities; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012160:Retina / Q000002:abnormalities; D012189:Retrospective Studies; D014463:Ultrasonography