Prenatal diagnosis of the fetus with cystic fibrosis and meconium ileus

• 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
• ISSN: 0179-0358; 1437-9813
• DOI: 10.1007/BF01076961

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.