title: Hyperechogenic fetal bowel: counseling difficulties.
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.
authors.affiliation: Department of Human Genetics, Clinical Genetics, Academic Hospital Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands. dominique.soekarman@gen.unimaas.nl
authors.forename: D
authors.initials: D
authors.lastname: Marcus-Soekarman
authors.forename: J
authors.initials: J
authors.lastname: Offermans
authors.forename: A M W
authors.initials: AM
authors.lastname: Van den Ouweland
authors.forename: A L M
authors.initials: AL
authors.lastname: Mulder
authors.forename: N
authors.initials: N
authors.lastname: Muntjewerff
authors.forename: M
authors.initials: M
authors.lastname: Vossen
authors.forename: W
authors.initials: W
authors.lastname: Kleijer
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: D
authors.initials: D
authors.lastname: Dooijes
mesh_terms: D000328:Adult; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging*; D005333:Fetus / Q000002:abnormalities; D005817:Genetic Counseling; D006801:Humans; D007231:Infant, Newborn; D007422:Intestines / Q000196:embryology / Q000473:pathology*; D008297:Male; D011247:Pregnancy; D016216:Ultrasonography, Prenatal
chemical_list: C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator