Prenatal diagnosis of the fetus with cystic fibrosis and meconium ileus

The sonographic finding of hyperechoic or dilated fetal bowel raises suspicion of a number of prenatal disorders including meconium ileus (MI), meconium peritonitis, congenital infection, neoplasm, or chromosomal trisomy. These findings may also represent transient normal variants. The following cas...

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Bibliographic Details
Published in:Pediatric surgery international 1997-07, Vol.12 (5-6), p.434-436
Main Authors: IRISH, M. S, RAGI, J. M, KARAMANOUKIAN, H, BOROWITZ, D. S, SCHMIDT, D, GLICK, P. L
Format: Article
Language:English
Subjects:
Adult
Algorithms
Biological and medical sciences
Cystic fibrosis
Cystic Fibrosis - complications
Cystic Fibrosis - diagnosis
Diseases of mother, fetus and pregnancy
DNA Mutational Analysis
Female
Fetuses
Gynecology. Andrology. Obstetrics
Humans
Intestinal Obstruction - diagnostic imaging
Intestinal Obstruction - etiology
Meconium
Medical research
Medical sciences
Pregnancy
Pregnancy. Fetus. Placenta
Prenatal Diagnosis
Sensitivity and Specificity
Ultrasonography
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Summary:The sonographic finding of hyperechoic or dilated fetal bowel raises suspicion of a number of prenatal disorders including meconium ileus (MI), meconium peritonitis, congenital infection, neoplasm, or chromosomal trisomy. These findings may also represent transient normal variants. The following case report details the evaluation of one pregnancy with abnormal intestinal echogenic findings on serial sonograms (US), to demonstrate inherent diagnostic difficulties in such a case. A diagnostic algorithm is presented to aid in the proper use of US and DNA mutation analysis for cystic fibrosis (CF), so that the cause of an abnormal abdominal US can be established earlier and more accurately than suggested by previous management schemes. Earlier fetal diagnosis may help to anticipate postnatal problems associated with CF/MI, and therefore provide more optimal clinical management of the affected fetus.
ISSN:0179-0358
1437-9813
DOI:10.1007/BF01076961