Predicting the risk of cystic fibrosis with echogenic fetal bowel and one cystic fibrosis mutation

Abstract

The probability of cystic fibrosis after detection of echogenic bowel and one cystic fibrosis mutation varied among ethnic groups. Even at the highest prevalence of cystic fibrosis, most white fetuses will not have cystic fibrosis. In nonwhite populations almost half of these fetuses will have cystic fibrosis, even at the lowest prevalence of cystic fibrosis.

Predicting the risk of cystic fibrosis with abnormal ultrasound signs of fetal bowel: Results of a French molecular collaborative study based on 641 prospective cases

“…Hyperechogenic fetal bowel is detected by means of prenatal ultrasound during the second trimester of pregnancy in 0.1–1.8% of fetuses [Hill et al, 1994; Slotnick and Abuhamad, 1996; Foster Bosco et al, 1999]. It has been described as a normal variant [Fakhry et al, 1986] but has often been associated with severe diseases, such as Down syndrome, cytomegalovirus infection, bowel atresia, cystic fibrosis (CF), and other adverse perinatal outcomes [Nyberg et al, 1990; Hill et al, 1994; Muller et al, 1995, 1998; Slotnick and Abuhamad, 1996; Berlin et al, 1999].…”

“…When only one mutation is detected, genetic counseling is difficult because there is a significant risk of CF, which greatly depends on the frequency of CF in hyperechogenic bowel cases, the frequency of CF in the specific population, and the screening detection rate [Monaghan and Feldman, 1999]. It has been estimated at about 9% [Foster Bosco et al, 1999; Hodge et al, 1999], based on a 2% CF frequency in hyperechogenic fetal bowel cases, a 4% CF‐heterozygous frequency, and a 90% mutation detection rate.…”