INCREASED ECHOGENICITY IN THE FETAL ABDOMEN - USE OF DNA ANALYSIS TO ESTABLISH A DIAGNOSIS OF CYSTIC-FIBROSIS

Citation
Wa. Hogge et al., INCREASED ECHOGENICITY IN THE FETAL ABDOMEN - USE OF DNA ANALYSIS TO ESTABLISH A DIAGNOSIS OF CYSTIC-FIBROSIS, Journal of ultrasound in medicine, 12(8), 1993, pp. 451-454
Citations number
12
Categorie Soggetti
Acoustics,"Radiology,Nuclear Medicine & Medical Imaging
ISSN journal
02784297
Volume
12
Issue
8
Year of publication
1993
Pages
451 - 454
Database
ISI
SICI code
0278-4297(1993)12:8<451:IEITFA>2.0.ZU;2-O
Abstract
The sonographic finding of increased echogenicity within the fetal abd omen presents a diagnostic dilemma, with a differential diagnosis rang ing from normal variation to CF. We report the diagnostic evaluation o f four cases, two of which were found to be the result of CF. On the b asis of this experience, we believe that persistence of an echogenic b owel pattern, especially with bowel dilation, after 20 weeks' gestatio n should prompt an evaluation for CF. Using DNA analysis, approximatel y 75% of the cases involving CF can be detected with noninvasive studi es of the parents, and confirmation by amniocentesis is performed only in those cases in which both parents are carriers of known mutations.