Outcomes of fetal isolated cleft lip / palate

The rate of chromosomal or genetic syndromes in babies born with an antenatally detected “apparently isolated cleft lip and/or palate” remains uncertain, often quoted at 5% but sometimes as high as 30%. With the advent of new genomic technologies such as trio Whole Exome Sequencing (WES), the rate of WES use in these cases and the added diagnostic yield of WES over and above traditional chromosomal microarray are also unknown. In collaboration with the Monash Health Cleft Clinic, we aim to retrospectively review all cases of “apparently isolated cleft lip and/or palate” (unilateral or bilateral), seen through the Fetal Diagnostic Unit at Monash Health, characterise the rate of genetic testing prenatally (through invasive testing or postnatally, WES usage and added yield, the rate of diagnosed genetic syndromes, and long-term outcomes in these cases.