1. Hypoxanthine and Xanthine as Markers in Early Diagnosis of Foetal Diseases
- Author
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M. Odorisio, M. Papponetti, I. Ruffini, C Di Ilio, G. Spoto, F. Gizzi, and Giandomenico Palka
- Subjects
Down syndrome ,Amniotic fluid ,Neural tube defect ,business.industry ,Neural tube ,Physiology ,Retinitis ,Gene mutation ,Macular degeneration ,medicine.disease ,chemistry.chemical_compound ,medicine.anatomical_structure ,chemistry ,medicine ,business ,reproductive and urinary physiology ,Hypoxanthine - Abstract
Human chorionic gonadotrophin (hCG), alpha-feto protein (αFP), unconjugated 3-oestriol (uE3) are the markers currently used in prenatal serum screening programs for neural tube defects and chromosomal disorders (1). However the use of triple markers, when screening for foetal Down syndrome, still fails to detect 40% of Down syndrome in women less than 35 years of age. Other screening methods are currently under investigation (2). In Down syndrome, abnormalities of purine metabolism have been detected (3–5); gene mutation of PDEa and PDEb have been identified in cases of retinitis pigmen-tosa and of macular degeneration (6–8).
- Published
- 1998
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