Fetal markers for the detection of infants with craniofacial malformation

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.