Studies in meconium. An approach to screening tests to detect cystic fibrosis.
Screening for cystic fibrosis (CF) in newborns is desirable, and efforts should continue in establishing a system of easily available, reliable, simple, and inexpensive tests. In addition to the Boehringer-Mannheim (BM) test for the detection of albumin, we propose the assay for lactase and beta-D-fucosidase in meconium. These latter two enzymes are present in the meconium of babies with CF and absent in meconium of most healthy babies. In a mass screening program for CF involving 20,182 specimens of meconium using only the BM strip, we found 46 positive results. Twenty-nine specimens came from infants with CF, six of whom had meconium ileus. Seventeen specimens yielded false-positive results by the BM test. Eleven of these would have been excluded by the addition of the lactase and beta-D-fucoside assay, thus reducing the false-positive test results by nearly 61%. In a comparative study of the three methods, the lactase and beta-D-fucosidase yielded 1.2% false-positives when examined independently. Performance of these two assays may allow greater specificity in diagnosis when used in addition to the BM test.
D000418:Albumins / Q000032:analysis; D005189:False Positive Reactions; D005696:Galactosidases / Q000032:analysis*; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D007415:Intestinal Obstruction / Q000209:etiology; D008403:Mass Screening; D008470:Meconium / Q000032:analysis*; D013542:Sweat; D005644:alpha-L-Fucosidase / Q000032:analysis*; D001616:beta-Galactosidase / Q000032:analysis*
D000418:Albumins; D005696:Galactosidases; D001616:beta-Galactosidase; D005644:alpha-L-Fucosidase