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Undetected anomalies in foetuses with a prenatal diagnosis of isolated cleft
M Haj1, M J Koudstaal1, M S Ramcharan2
1Department of Maxillofacial Surgery, Erasmus MC - Sophia Children's Hospital, University Medical Centre Rotterdam, Rotterdam, The Netherlands.
Insights
Prenatal diagnosis of isolated oral clefts may miss additional anomalies. About 13.6% of infants had postnatal anomalies, including major ones, highlighting the need for careful genetic counseling.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Craniofacial Anomalies
Background:
- Prenatal diagnosis of isolated oral clefts is common.
- The occurrence of additional anomalies postnatally is a concern.
Purpose of the Study:
- To determine the rate of undetected additional anomalies after prenatal diagnosis of isolated oral cleft.
- To analyze the types and prevalence of these anomalies.
Main Methods:
- Retrospective study of infants with prenatal diagnosis of isolated oral cleft (2000-2015).
- Categorization of postnatal anomalies as minor or major (structural, chromosomal).
Main Results:
- 176 infants diagnosed prenatally with isolated oral cleft.
- 13.6% (24/176) had postnatal additional anomalies; 6.8% (12/176) were major.
- Major anomalies included submicroscopic chromosomal anomalies and gene mutations.
- Anomalies were more frequent in cleft lip and alveolus (CLA) and cleft lip, alveolus, and palate (CLAP) compared to cleft lip (CL), and in bilateral vs. unilateral clefts.
Conclusions:
- Major anomalies can be present even with a prenatal diagnosis of isolated oral cleft.
- The prevalence of additional anomalies is linked to cleft type and bilaterality.
- Consideration of these factors is crucial for prenatal counseling.
Abstract:
The aim of this study was to determine the rate of undetected additional anomalies following a prenatal diagnosis of isolated oral cleft. Data of all infants with a prenatal diagnosis of isolated oral cleft born between 2000 and 2015 were studied retrospectively. Additional anomalies detected after birth were categorized as minor or major and included structural and chromosomal anomalies. Isolated clefts of the lip (CL), lip and alveolus (CLA) and lip, alveolus, and palate (CLAP) were diagnosed prenatally in 176 live-born infants. The type of cleft was more extensive after birth in 34/176 (19.3%) and less extensive in 16/176 (9.1%) newborns. Additional anomalies were diagnosed in 24 infants (13.6%), of which 12 (6.8%) were categorized as major. The latter included two submicroscopic chromosome anomalies and two gene mutations. Postnatal additional anomalies occurred more frequently in CLA and CLAP than in CL, and more in bilateral than in unilateral clefts. Major anomalies are still found in infants with a prenatal diagnosis of an isolated oral cleft. The prevalence of additional anomalies seems to be related to the type and bilaterality of the cleft, and this should be considered during prenatal counselling.
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