Analysis of CFTR mutation screening in cases of isolated fetal echogenic bowel in the South Australian population

Diagnosis of Cystic Fibrosis, CFTR-Related Disease and Screening

“…Identification of echogenic bowel on fetal ultrasound raises the suspicion of CF that can be addressed by molecular analysis of the fetus and/or parents [21][22][23]. Adult patients represent a growing proportion of patients receiving a primary diagnosis of CF [24], and typically present with pancreatitis, chronic sinusitis or male infertility.…”