Hyperechogenic fetal bowel : counseling difficulties

Marcus-Soekaram, D.; Offermans, J.; Van den Ouweland, A.M.W.; Mulder, A.L.M.; Muntjewerff, N.; Vossen, M.; Kleijer, W.; Schrander-Stumpel, C.; Dooijes, D.

doi:10.1016/J.EJMG.2005.05.001

Title

Hyperechogenic fetal bowel : counseling difficulties

Author

Marcus-Soekaram, D.

Offermans, J.

Van den Ouweland, A.M.W.

Mulder, A.L.M.

Muntjewerff, N.

Vossen, M.

Kleijer, W.

Schrander-Stumpel, C.

Dooijes, D.

Abstract

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.

Language

English

Source (journal)

European journal of medical genetics. - Paris

Publication

Paris : 2005

ISSN

1769-7212

DOI

10.1016/J.EJMG.2005.05.001

Volume/pages

48 :4 (2005) , p. 421-425