Chromosomal defects and associated malformations in fetal cleft lip with or without cleft palate.
OBJECTIVE
To describe the incidence, associated features including chromosomal defects in fetuses, with cleft lip and/or palate and assess the need for karyotyping.


METHODS
Retrospective study of 62 cases of prenatally diagnosed facial cleft lip and/or palate in a tertiary fetal medicine unit between January 1991 and December 1999. Chromosome analysis was performed in all fetuses with associated ultrasound findings and in 14 (39%) fetuses with isolated facial clefts.


RESULTS
Associated abnormalities were detected in 26 (42%) of the 62 fetuses of which 22 (35%) fetuses had multiple other abnormalities. Central nervous system abnormalities and limb malformations were the most common. Three fetuses had genetic syndromes confirmed after birth. All fetuses with isolated clefts were chromosomally normal, whereas 15 of the 26 with additional abnormalities (58 or 24% of the total group) had chromosomal defects (eight cases of trisomy 13, five of trisomy 18, one unbalanced translocation between chromosomes 7 and 8, and one deletion 4p-). All 22 women who chose not to undergo fetal karyotype analysis delivered phenotypically normal infants. There were five midline clefts; each of them was associated with additional sonographic findings and four were associated with holoprosencephaly.


CONCLUSIONS
Isolated facial clefting is not associated with an increased risk for chromosomal defect. Amniocentesis is recommended when facial cleft is found in association with additional ultrasonographic abnormalities as it is unnecessary for isolated clefts.
Perrotin
F
F
Department of Obstetrics and Gynecology, Fetal Medicine and Human Reproduction, Bretonneau University Hospital, F-37044 Tours Cedex, France. f.perr@infonie.fr
de Poncheville
L M
LM
Marret
H
H
Paillet
C
C
Lansac
J
J
Body
G
G
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D002869:Chromosome Aberrations; D025063:Chromosome Disorders / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics*; D002971:Cleft Lip / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D002972:Cleft Palate / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging* / Q000453:epidemiology / Q000235:genetics*; D006801:Humans; D015994:Incidence; D007621:Karyotyping; D011247:Pregnancy; D012189:Retrospective Studies; D014463:Ultrasonography