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Fetal markers for the detection of infants with craniofacial malformation
Cornelia Wiechers1, Karl Oliver Kagan2
1Department of Neonatology, University Hospital, Eberhard Karls University, Calwerstraße 7, Tübingen, 72076, Germany; Interdisciplinary Center for Craniofacial Malformations, University Hospital, Eberhard Karls University, Tübingen, Germany.
Insights
Facial clefts and Robin sequence (RS) require early diagnosis during pregnancy. Comprehensive fetal examination, genetic testing, and interdisciplinary counseling are crucial for managing these conditions and ensuring optimal postnatal outcomes.
Area of Science:
- Medical Genetics
- Fetal Medicine
- Pediatric Surgery
Background:
- Facial clefts and Robin sequence (RS) are congenital conditions often diagnosed prenatally.
- These conditions share diagnostic timing, genetic associations, and management strategies.
- Early identification of further anomalies is critical upon suspicion of either condition.
Purpose of the Study:
- To outline the diagnostic and management pathway for fetuses with suspected facial clefts or Robin sequence.
- To emphasize the importance of interdisciplinary collaboration and genetic evaluation.
- To guide parents on therapeutic options and expected postnatal outcomes.
Main Methods:
- Detailed fetal anatomical examination upon suspicion of facial cleft or RS.
- Genetic testing, including chromosomal microarray and exome analysis.
- Interdisciplinary counseling involving pre- and postnatal specialists.
Main Results:
- Suspicion of facial cleft or RS necessitates a thorough fetal anomaly scan.
- Genetic testing aids in identifying underlying genetic causes.
- Informed parental counseling on treatment and outcomes is essential.
Conclusions:
- Integrated diagnostic and management approaches improve outcomes for infants with facial clefts and RS.
- Specialized centers experienced in craniofacial malformations are vital for delivery and immediate postnatal care.
- Preparation for potential airway obstruction is critical at birth.
Abstract:
Facial clefts and Robin sequence (RS) share the timing of the diagnosis during the course of pregnancy, their association with genetic diseases and the subsequent management following the initial diagnosis. If a suspicion of a facial cleft or RS is made, a detailed anatomical examination of the fetus should be carried out to identify further anomalies. This may also involve genetic testing including a microarray or an exome analysis. Interdisciplinary counseling, including pre- and postnatal experts with sufficient experience in the management of such neonates, should be involved in this counseling. Parents should be informed about disease-specific therapeutic options and postnatal outcome. Delivery should take place in a center with experience in craniofacial malformations where clinicians are prepared for potentially life-threatening airway obstruction immediately after birth.
