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Abstract: Dysmorphology is the study of congenital malformations and anatomic variations of the individuals. Up to 2500 dysmorphic or malformative syndromes are described, most of them being characterized by mental retardation. Craniofacial dysmorphology may be the keystone of syndrome identification, although limb anomalies are sometimes important diagnostic clues. The advances of fetal imaging, particularly the development of 3D ultrasound techniques, allow a detailed analysis of the fetal face. Dysmorphology requires experience of rare syndromes and a perfect knowledge of normal facial appearance and variations. In utero, this approach must combine the skills of both a practitioner with expertise in fetal ultrasound and a pediatric dysmorphologist. Furthermore, facial changes have to be analyzed according to the context of the pregnancy and family history. Identification of patent facial anomalies may be a clue for the diagnosis of severe fetal syndromes and diseases. Conversely, when fetal malformations or abnomalities of the fetal growth are identified, a careful facial analysis can be proposed in order to rule out well-known syndromes with a poor prognosis. However, from an ethical point of view, parents should not be aware of a possible facial dysmorphism unless there is a precise diagnosis and options concerning the pregnancy. [ABSTRACT FROM AUTHOR]

Abstract: Objective: Prenatal diagnosis of cleft lip and palate has been available for over 25 years. 3D ultrasound has significantly improved prenatal screening and perinatal care. Surface rendering of the fetal face is frequently asked by parents during exam and it has been shown to substantially improve parental-fetal bonding. However, little is known about the parental impact of surface ultrasound of the abnormal fetal face. We thus decided to assess parental feelings after 3D surface rendering of the fetal face in cleft lip and palate. Patient(s) and method: Between January 2003 and December 2006, a questionnaire was systematically proposed after birth to the parents who had 3D examination during pregnancy for lip and cleft palate. Analysis of results was performed retrospectively. Results: Twenty-three couples answered to inclusion criteria, 12 have been contacted, 9 responded. 3D ultrasound was not perceived as disturbing in 78% of parents. On the contrary 3D pictures had a positive effect and better prepare parents to birth. All of them even more considered that it should be systematically performed. Discussion and conclusion: Prenatal diagnosis of cleft lip and palate is known to improve parental well-being during the perinatal period. Furthermore, in addition to improved diagnosis, 3D ultrasound also provides a better understanding and acceptance of the malformation than 2D examination. The parental impact of 3D ultrasound is positive supporting and strengthening a systematic use in isolated fetal lip and cleft palate. [Copyright &y& Elsevier]