The detection of echodense fetal bowel on ultrasound examination in the second trimester of pregnancy justifies invasive procedures such as amniocentesis to detect an underlying cause. We present a case in which initial tests identified only one mutation in the cystic fibrosis transmembrane regulator (CFTR)-gene of the fetus, the family history being negative for CF. Strongly reduced intestinal enzyme activities suggested intestinal obstruction and further increased the estimated risk for CF. After the 24th gestational week, a second mutation was found, confirming cystic fibrosis in this child. Problems in counseling in this particular case are discussed.

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doi.org/10.1016/j.ejmg.2005.05.001, hdl.handle.net/1765/68905
European Journal of Medical Genetics
Department of Clinical Genetics

Marcus-Soekarman, D, Offermans, J.P.M, van den Ouweland, A.M.W, Mulder, A.L.M, Muntjewerff, N, Vossen, M, … Dooijes, D. (2005). Hyperechogenic fetal bowel: Counseling difficulties. European Journal of Medical Genetics, 48(4), 421–425. doi:10.1016/j.ejmg.2005.05.001