کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
9935691 1569552 2005 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Hyperechogenic fetal bowel: counseling difficulties
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Hyperechogenic fetal bowel: counseling difficulties
چکیده انگلیسی
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.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 48, Issue 4, October–December 2005, Pages 421-425
نویسندگان
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