Chromosomal defects and associated malformations in fetal cleft lip with or without cleft palate

Objective: To describe the incidence. associated features including chromos omal defects in fetuses, with cleft lip and/or palate and assess the need f or karyotyping. Methods: Retrospective study of 62 cases of prenatally diag nosed facial cleft lip and/or palate in a tertiary fetal medicine unit betw een January 1991 and December 1999. Chromosome analysis was performed in al l 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 abn ormalities. Central nervous system abnormalities and limb malformations wer e the most common. Three fetuses had genetic syndromes confirmed after birt h. All fetuses with isolated clefts were chromosomally normal, whereas 15 o f the 26 with additional abnormalities (58 or 24% of the total group) had c hromosomal defects (eight cases of trisomy 13, five of trisomy 18, one unba lanced translocation between chromosomes 7 and 8, and one deletion 4p-). Al l 22 women who chose not to undergo fetal karyotype analysis delivered phen otypically normal infants. There were five midline clefts; each of them was associated with additional sonographic findings and four were associated w ith holoprosencephaly. Conclusion: Isolated facial clefting is not associat ed with an increased risk for chromosomal defect. Amniocentesis is recommen ded when facial cleft is found in association with additional ultrasonograp hic abnormalities as it is unnecessary for isolated clefts. (C) 2001 Elsevi er Science Ireland Ltd. All rights reserved.