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Chromosomal defects and associated malformations in fetal cleft lip with or without cleft palate
F Perrotin1, L M de Poncheville, H Marret
1Department of Obstetrics and Gynecology, Fetal Medicine and Human Reproduction, Bretonneau University Hospital, F-37044 Tours Cedex, France. f.perr@infonie.fr
Insights
Isolated cleft lip and/or palate in fetuses do not indicate an increased risk for chromosomal defects. Karyotyping is recommended only when clefts present with additional ultrasonographic abnormalities.
Area of Science:
- Prenatal diagnosis
- Medical genetics
- Fetal medicine
Background:
- Facial clefts, including cleft lip and/or palate, are common congenital anomalies.
- Associated chromosomal defects can significantly impact fetal prognosis and management.
- Determining the necessity of karyotyping for fetuses with clefts is crucial for clinical decision-making.
Purpose of the Study:
- To investigate the incidence of chromosomal defects in fetuses diagnosed with cleft lip and/or palate.
- To identify associated features that may indicate underlying genetic abnormalities.
- To assess the clinical utility of karyotyping in cases of isolated versus non-isolated facial clefts.
Main Methods:
- Retrospective analysis of 62 prenatally diagnosed cases of facial cleft lip and/or palate.
- Karyotyping performed on fetuses with associated ultrasound findings and a subset with isolated clefts.
- Review of associated abnormalities, including central nervous system and limb malformations.
Main Results:
- 42% of fetuses with facial clefts had associated abnormalities, with 35% having multiple malformations.
- Isolated clefts were not associated with chromosomal abnormalities.
- 15 of 26 fetuses with additional abnormalities (24% of total) had chromosomal defects, including trisomy 13 and 18.
Conclusions:
- Isolated facial clefting does not warrant routine karyotyping due to a lack of increased chromosomal defect risk.
- Amniocentesis is recommended for fetuses with facial clefts accompanied by other ultrasonographic abnormalities.
- This finding aids in refining diagnostic protocols and genetic counseling for prenatal diagnosis of facial clefts.
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.
Conclusion:
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.