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Abstract
Aim: Orofacial clefts comprise cleft lip (CL) or cleft lip-palate (CLP) and are the most frequently encountered malformation of the facial region, accounting for approximately 1-2.2/1,000 live births. The aim of this study was to reveal the particularities regarding the prenatal diagnosis of orofacial clefts in a series of 11 cases diagnosed in a tertiary center. Material and methods: The study was performed in a tertiary diagnostic center for a period of 8 years (January 2010 - December 2017), on 8125 patients that were assessed for screening or suspicion of malformations. Results: During the assessed period a number of 11 fetuses (0.13%) were diagnosed by 2D and 3D ultrasound with CL (4 cases) or CLP (7 cases). The smallest gestational age at diagnosis was of 14 weeks, whereas the highest was 35 weeks. Of the 7 cases diagnosed with CLP, 4 presented also other associated anomalies that involved the central nervous system, the kidney, the skeleton and the stomach. All 4 cases of CL had identifiable associated anomalies. Termination of pregnancy was encountered in 3 cases with CLP. Conclusions: CLP can be diagnosed even at the end of the 1st trimester of pregnancy. CL is usually diagnosed during the 2nd trimester ultrasound exam and is commonly an isolated anomaly.
Keywords: cleft lip; cleft lip palate; ultrasound; prenatal diagnosis
Introduction
Orofacial clefts comprise of cleft lip (CL) or cleft lippalate (CLP) and are the most frequently encountered malformation of the facial area that develop during the 6th-8th week of the intrauterine life. They represent also the second most common birth defects [1,2]. The etiology of these malformations involves multiple factors. Genetic predisposition and fetal exposure to teratogenic factors during the 2nd and the beginning of the 3rd month are the most commonly incriminated triggers for these malformations [3,4]. The worldwide incidence of orofacial clefts varies between 1-2.2/1,000 live births, whereas the prevalence depends on the geographic area and ethnic features and ranges from 1:500 to 1:2,500 live births [5-7]. These types of clefts can be encountered isolated or as a part of other genetic syndromes. Approximately one third of these orofacial malformations are associated with other anomalies, such as the central nervous system, heart or limbs, ones that can threaten life itself [8,9]. Additionally,...