Contribution of Chromosomal Microarray Analysis to the Prenatal Diagnosis of Fetal Craniofacial Malformation

Objective: To determine the relationship between chromosomal abnormalities and craniofacial malformations (CFMs) in the prenatal stage. Methods:We included in this retrospective observational study 26 cases of CFMs diagnosed in our hospital between 2010 and 2016 based.We performed a univariate descriptive analysis of the mean, the interval and the standard deviation for continuous variables and an analysis of absolute frequency and percentages for the categorical variables. Results:The incidence of CFMs in our group was 0,17%.Or official clefts represent 50% of CFMs (N=13).We also found 8 cases of craniofacial dysplasia; 3 cases of craniofronto nasal dysplasia and hypertelorism syndrome (11.5%), 3 cases of maxilla nasal dysplasia (11.5%) and 2 cases of maxillo-mandibular dysplasia (7.7%).Two facial tumors (7.7%) and one case of craniosynostoses (3.8%) were diagnosed.One case of Otocephalia Complex (3.8%) and another of popliteal pterygium syndrome (3.8%) were also described.Fetal karyotype was performed in 81% of the fetuses detecting two cases of trisomy 13.Microarrays were conducted in 27% of the cases and we did not detect any significant change in the number of chromosomal abnormalities. Conclusions:The incidence of CFMs in our population was 0.17% and the most common CFMs were isolated cleft lip.The 7.7% of the cases of CFMs presented a chromosomal abnormality.Microarrays did not detect any significant change in the number of chromosomal abnormalities, probably due to the small number of cases.Our study demonstrates that an early detection of CFMs at the first trimester morphological ultrasound is possible.