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Prenatal diagnosis of cystic fibrosis
W Kampmann1, L Mathy, K H Grzeschik
1Universitätskinderklinik Bochum.
Insights
Cystic fibrosis (CF) diagnosis is now possible in the first trimester using DNA technology. This advancement offers crucial prenatal diagnostic options for families affected by this common genetic disorder.
Area of Science:
- Genetics
- Medical Diagnostics
Background:
- Cystic fibrosis (CF) is a common autosomal recessive genetic disorder in Caucasians.
- It causes chronic obstructive pulmonary disease, pancreatic insufficiency, and high perspiration electrolytes.
- Despite improved patient outlooks, CF remains a serious, effectively lethal disease for homozygotes.
Purpose of the Study:
- To discuss the application of DNA technology for first-trimester prenatal diagnosis of cystic fibrosis.
- To explore the use of polymorphic marker loci for prenatal diagnosis and carrier testing.
Main Methods:
- Utilizes DNA technology and polymorphic marker loci.
- Builds upon second-trimester diagnostic methods targeting microvillar enzymes.
Main Results:
- First-trimester prenatal diagnosis for cystic fibrosis is now achievable.
- DNA technology significantly enhances diagnostic capabilities for CF.
Conclusions:
- First-trimester prenatal diagnosis using DNA technology provides vital options for families.
- Polymorphic marker loci are key tools for prenatal diagnosis and carrier testing in cystic fibrosis.
Abstract:
Cystic fibrosis is the most common autosomal recessive genetic disorder in the Caucasian population (1:2000-1:4000) (Warwick, W. J. (1978) Helv. Paediatr. Acta 33, 117-125). This defect is characterized by chronic obstructive pulmonary disease, pancreatic exocrine insufficiency and abnormally high perspiration electrolytes in most patients (Talamo et al. (1985) In: The metabolic basis of inherited diseases, pp. 1887-1917). The elevated electrolyte level provides the most reliable diagnostic test for cystic fibrosis homozygotes. Although prospects for cystic fibrosis patients have improved, genetically homozygous cystic fibrosis is effectively a lethal disease. Because of the seriousness of the disease, many families with one affected child desire a prenatal diagnosis when a second pregnancy occurs. Despite extensive research, the biochemical basis of cystic fibrosis remains unknown. Secondary effects on microvillar enzymes allow second trimester diagnosis (17-18 weeks of gestation (Brock, D. H. J. (1983) Lancet II, 941-943). First trimester prenatal diagnosis for cystic fibrosis became possible with DNA technology. Application of polymorphic marker loci to problems of prenatal diagnosis and carrier-testing is discussed.