723 ANTENATAL DETECTION OF CYSTIC FIBROSIS
| Autor: | Catharine J Harris, Phyllis Rembelski, Henry L. Nadler, Kathi Mesirow |
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| Rok vydání: | 1981 |
| Předmět: | |
| Zdroj: | Pediatric Research. 15:562-562 |
| ISSN: | 1530-0447 0031-3998 |
| DOI: | 10.1203/00006450-198104001-00746 |
| Popis: | Preliminary studies previously reported by our laboratory have suggested that quantitative and qualitative measurements of methylumbelliferylguanidinobenzoate (MUGB) reactive proteases in mid-trimester amniotic fluid may provide an approach to the antenatal detection of cystic fibrosis. During the past year, we have evaluated thirty additional amniotic fluids using a combination of quantitative measurements of MUGB, isoelectricfocusing, and gel filtration, bringing the total number of high risk pregnancies monitored to forty-three. Eighteen pregnancies have come to term, fifteen from obligate heterozygote parents. Sweat chloride analysis has confirmed our prediction of fifteen normal and three affected with cystic fibrosis. Three additional pregnancies, predicted to be affected, were electively terminated. Unfortunately, confirmation is not possible. There has been one spontaneous abortion and one stillbirth. The stillbirth, predicted in 1979 to be normal by only two tests, had evidence of meconium peritonitis on autopsy. This case, therefore, may represent a missed diagnosis. The remaining twenty pregnancies will come to term within the next five months. These data suggest that this approach may provide a clinically useful means for antenatal detection of cystic fibrosis. |
| Databáze: | OpenAIRE |
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