Our model demonstrated that SP-B was the most influential predictor of CDH, with a variable importance (VIMP) value of 16.1 (95% C.I. 2.7–29.4), and that gestational age at amniotic fluid collection least improved the model, VIMP value − 0.6 (95% C.I. − 6.7–5.4, Fig. 5A). The gene discussed is SFTPB; the disease is congenital diaphragmatic hernia.