Although we confirmed the presence of TITF1 in follicular thyroid epithelium, normal trachea, and bronchial epithelium of human fetuses at 14 to 24 weeks of gestation, we did not detect any mutation, insertion, or deletion on the human TITF1 gene in our series of CDH cases. Here, NKX2-1 is linked to congenital diaphragmatic hernia.