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Antenatal ultrasonic findings of craniofacial malformations
1Department of Obstetrics and Gynecology, National Taiwan University Hospital, Taipei, R.O.C.
Insights
Prenatal ultrasound can detect fetal craniofacial malformations, often associated with polyhydramnios and chromosomal abnormalities like autosomal trisomy. Early identification aids in diagnosis and management.
Area of Science:
- Medical imaging
- Prenatal diagnosis
- Genetics
Background:
- Fetal craniofacial malformations are congenital conditions affecting facial development.
- Sonographic identification of these anomalies is crucial for prenatal assessment.
- Common findings include holoprosencephaly and median cleft syndrome.
Purpose of the Study:
- To report the sonographic findings in a cohort of fetuses with craniofacial malformations.
- To highlight associated anomalies and genetic findings.
- To emphasize the importance of antenatal diagnosis and management.
Main Methods:
- Retrospective sonographic review of 13 cases with fetal craniofacial malformations.
- Detailed fetal anomaly survey.
- Karyotyping via amniocentesis in selected cases.
Main Results:
- Craniofacial malformations were identified in 13 fetuses.
- Holoprosencephaly and median cleft syndrome were most frequent.
- Polyhydramnios occurred in 54% of cases; 5 of 12 fetuses studied had autosomal trisomy.
Conclusions:
- Antenatal recognition of craniofacial malformations warrants a thorough fetal survey for other anomalies.
- Cytogenetic studies are indicated for accurate diagnosis and management planning.
- Screening for fetal craniofacial malformations during mid-trimester ultrasound is recommended.
Abstract:
Fetal craniofacial malformations were identified sonographically in 13 cases. Holoprosencephaly and median cleft syndrome were the most frequent findings. Cleft lip, cleft palate, single nostril, cyclopia and hypotelorism were also seen. Seven of the 13 cases (54%) had polyhydramnios. Amniocentesis was performed on 12 fetuses, and 5 of them showed autosomal trisomy. Accordingly, when craniofacial malformation is recognized antenatally, a careful survey of the fetus for other associated structural anomalies and cytogenetic study are indicated to aid in diagnosis and subsequent obstetric and neonatal management. Also screening for fetal craniofacial malformation is recommended during mid-trimester ultrasound examinations.