Maxillary gap at 11-13 weeks' gestation: marker of cleft lip and palate.
OBJECTIVE
To describe a new sign of cleft lip and palate (CLP), the maxillary gap, which is visible in the mid-sagittal plane of the fetal face used routinely for measurement of nuchal translucency thickness.


METHODS
This was a retrospective study of stored images of the mid-sagittal view of the fetal face at 11-13 weeks' gestation in 86 cases of CLP and 86 normal controls. The images were examined to determine if a maxillary gap was present, in which case its size was measured.


RESULTS
In 37 (43.0%) cases of CLP the defect was isolated and in 49 (57.0%) there were additional fetal defects. In the isolated CLP group, the diagnosis of facial cleft was made in the first trimester in nine (24.3%) cases and in the second trimester in 28 (75.7%). In the group with additional defects, the diagnosis of facial cleft was made in the first trimester in 46 (93.9%) cases and in the second trimester in three (6.1%). A maxillary gap was observed in 96% of cases of CLP with additional defects, in 65% of those with isolated CLP and in 7% of normal fetuses. There was a large gap (>1.5 mm) or complete absence of signals from the maxilla in the midline in 69% of cases of CLP with additional defects, in 35% of those with isolated CLP and in none of the normal controls.


CONCLUSIONS
The maxillary gap is a new simple marker of possible CLP, which could increase the detection rate of CLP, especially in isolated cases.
Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
R
R
Chaoui
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
G
G
Orosz
Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
K S
KS
Heling
Center for Prenatal Diagnosis and Human Genetics, Berlin, Germany.
A
A
Sarut-Lopez
Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, London, UK.
K H
KH
Nicolaides
D000328:Adult; D002971:Cleft Lip / Q000000981:diagnostic imaging / Q000196:embryology*; D002972:Cleft Palate / Q000000981:diagnostic imaging / Q000196:embryology*; D005260:Female; D047109:Fetal Development; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005865:Gestational Age; D006801:Humans; D008437:Maxilla / Q000196:embryology*; D008445:Maxillofacial Development; D048208:Nuchal Translucency Measurement; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D012189:Retrospective Studies
cleft lip; cleft palate; maxillary gap