Velázquez A, Vela-Amieva M, Naylor EW, Chace DH

Language: Spanish
References: 25
Page: 206-213
PDF size: 114.35 Kb.

ABSTRACT

Objective. To report the first results of Expanded Neonatal Screening in Mexico, for the detection of apparently healthy newborns affected with one of 36 metabolic disorders, with the purpose of preventing or controlling the damage. Material and methods. Blood samples were obtained, by pricking the heel of 7,193 newborns, collected on Guthrie cards, and shipped to Pittsburgh, USA for processing. Screening tests were performed on them for the detection of endocrine abnormalities and disorders of carbohydrate, amino acid, organic acid and fatty acid metabolism. Infants with positive results were followed up by means of confirmatory studies, including DNA analyses in the initial blood samples. Specific treatment of confirmed cases is an essential part of this program. Results. Eighteen infants with one of these diseases were detected: 2 with congenital hypothyroidism, 2 with congenital adrenal hyperplasia, 8 with a carbohydrate defect, 3 with an organic academia, 1 with a fatty acid oxidation disorder and 2 with cystic fibrosis. Conclusions. There are clear advantages of this new kind of neonatal screening over the conventional (“basic”) one. The observed positive rate (22 per 10,000), although of preliminary nature, shows that the set of disorders screened for, are a significant neonatal health problem in Mexico.

REFERENCES

1. American Academy of Pediatrics Committee on Genetics. Newbom screening fact sheets. Pediatrics 1989; 83: 449-64.

2. National Research Council. Genetic screening: programs, principles and research. Washington, D.C. National Academy of Sciences 1975.

3. Guthrie R, Susi A. A simple phenylalanine method for detecting phenylketonuria in large populations of newborn infants. Pediatrics 1963; 32: 338-43.

4. Naylor EW. New technologies in newborn screening. Yale J Biol Med 1991; 64(1): 21-4.

5. Levy HL. Newborn screening by tandem mass spectrometry: a new era. Clinical Chemistry 1998; 44: 2401-02.

6. Poder Ejecutivo Federal. Norma técnica No. 321 para la prevención del retraso mental producido por hipotiroidismo congénito. Diario Oficial de la Federación 1988; 14: 88-90.

7. Saudubray JM, Charpentier C. Clinical phenotypes: diagnosis/algorithms. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease. 7th ed. New York: Mc Graw-Hill 1995: 327-400.

8. Wolf B, Grier R, Parker W. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta 1983; 131: 273-81.

9. Beutler E, Baluda MC. A simple spot test for galactosemia. J Lab Clin Med 1966; 68: 137-41.

10. Pang S, Wallace MA, Kofinan L, Thuline HC, Dorche C, Lyon IC et al. Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1988; 81: 866-74.

11. Fisher DA, Dussault JH, Foley Jr. TP, Klein AH, LaFranchi S, Larsen PR et al. Screening for congenital hypothyroidism: results of screening one million North American infants. J Pediatr 1979; 94: 700-05.

12. Spence WC, Paulus-Thomas J, Ornstein DM, Naylor EW. Neonatal screening for cystic fibrosis: addition of molecular diagnostics to increase specificity. Biochem Med Met Biol 1993; 49: 200-11.

13. Chace DH, Millington DS, Terada N, Kahler SG, Roe CR, Hofman LF. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem 1993; 39(1): 66-71.

14. Chace DH, Hillman SL, Van Hove JL, Naylor EW. Rapid diagnosis of MCAD deficiency: quantitatively analysis of octanoylcarnitine and other acylcamitines in newborn blood spots by tandem mass spectrometry. Clin Chem 1997; 43(11): 2106-13.

15. Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 1995; 41(1): 62-8.

16. Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol 1999; 14 (Suppl 1): 54-8.

17. Heath EM, O’Brien DP, Banas R, Naylor EW, Dobrowolski S. Optimization of an automated DNA purification protocol for neonatal screening. Arch Pathol Lab Med 1999; 123(12): 1154-60.

18. Chace DH, Sherwin JE, Hillman SL, Lorey F, Cunningham GC. Use of phenylalanine-to-tyrosine ratio determined by tandem mass spectrometry to improve newborn screening for phenylketonuria of early discharge specimens collected in the first 24 hours. Clin Chem 1998; 44(12): 2405-9.

19. Velázquez A. El nuevo tamiz neonatal: una revolución en pediatría preventiva. Bol Med Hosp Infant Mex 1998; 55(6): 311-13.

20. Velazquez A, Vela-Amieva M, Ciceron-Arellano I, Ibarra-Gonzalez I, Perez-Andrade ME, Olivares-Sandoval Z et al. Diagnosis of Inborn Errors of Metabolism. Arch Med Res 2000; 31(2): 145-50.

21. Luzzatto L, Mehta A. Glucose 6-phosphate dehydrogenase deficiency. In: Scriver CR, Beaudet AL, WS Sly, Valle D, editors. The metabolic and molecular bases of inherited metabolic disease. 7th ed. New York: McGraw-Hill 1995: 3367-98.

22. Segal S, Berry GT. Disorders of galactose metabolism. In: Scriver CR, Beaudet AL, WS Sly, Valle D, editors. The metabolic and inherited bases of inherited metabolic disease. 7th ed. New York: McGraw-Hill 1995: 967-1000.

23. Velázquez A, Prieto EC. Glycine in acute management of isovaleric acidemia. Lancet 1980; 1: 313-14.

24. Winter SC, Buist NRM. Clinical treatment gude to inboern errors of metabolism. J Rare Diseases 1998; 4: 18-46.

25. Naylor EW. Biochemical versus molecular newborn screening. Screening 1995; 4: 41-45.