TY - JOUR
T1 - Hyperechogenic fetal bowel
T2 - Counseling difficulties
AU - Marcus-Soekarman, D.
AU - Offermans, J.
AU - Van Den Ouweland, A. M W
AU - Mulder, A. L M
AU - Muntjewerff, N.
AU - Vossen, M.
AU - Kleijer, W.
AU - Schrander-Stumpel, C.
AU - Dooijes, D.
PY - 2005/10/1
Y1 - 2005/10/1
N2 - 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.
AB - 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.
KW - Cystic fibrosis
KW - Fetus
KW - Hyperechogenic bowel
UR - http://www.scopus.com/inward/record.url?scp=29544449917&partnerID=8YFLogxK
U2 - 10.1016/j.ejmg.2005.05.001
DO - 10.1016/j.ejmg.2005.05.001
M3 - Article
C2 - 16378926
AN - SCOPUS:29544449917
SN - 1769-7212
VL - 48
SP - 421
EP - 425
JO - European Journal of Medical Genetics
JF - European Journal of Medical Genetics
IS - 4
ER -