Novel Compound Heterozygous CFAP53 Variants in a Fetus With Situs Inversus Totalis: A Case Report

Heterotaxy defects can include morphological deviations that affect left-right symmetry. In this case report, we observed novel compound heterozygous CFAP53 variants that affect laterality. Whole exome sequencing (WES) was performed during pregnancy. Prenatal exome sequencing is particularly valuable for fetuses with laterality defects, given the increasingly high diagnostic success observed in this category of morphological abnormalities. Molecular testing plays an important role in genetic counselling, allowing parents to make decisions about pregnancy, calculating risk, and often predicting possible medical problems due to the nature of the disease.