Community-based program for the diagnosis and prevention of genetic disorders in Cuba: Twenty years of experience

Community Genetics

Volumn 7, Issue 2-3, 2003, Pages 130-136

  Heredero Baute, Luis ^a  

^a Hospital Clínico Quirúrgico   (Cuba)

Author keywords

Congenital anomalies; Cuba; Genetic counseling; Genetic screening; Genetic services; Neural tube defects; Prenatal diagnosis; Sickle cell disorders

Indexed keywords

ALPHA FETOPROTEIN;

GENETIC COUNSELING; GENETIC DISORDER; GENETIC SERVICE; HUMAN; INDUCED ABORTION; NEURAL TUBE DEFECT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PUBLIC HEALTH SERVICE; REVIEW; RISK ASSESSMENT; SICKLE CELL ANEMIA;

CHROMOSOME ABERRATIONS; CUBA; FEMALE; GENETIC COUNSELING; GENETIC DISEASES, INBORN; GENETIC SERVICES; HUMANS; INFANT, NEWBORN; NEONATAL SCREENING; PREGNANCY; PRENATAL DIAGNOSIS; SOCIAL WELFARE;

EID: 8344245572     PISSN: 14222795     EISSN: None     Source Type: Journal    
DOI: 10.1159/000080783     Document Type: Review

References (43)

1. Heredero L: Comprehensive national genetic program in a developing country - Cuba. Birth Defects Orig Artic Ser 1992;28,3:52-57.
2. Heredero L: Los servicios de genética médica en Cuba. Braz J Genet 1997;20,1:47-53.
3. Galjaard H: Genetic technology in health care. Int J Technol Assess Health Care 1994;10:527-545.
4. Penchaszadeh V: Preventing congenital anomalies in developing countries. Community Genet 2002;5:61-69.
5. Sickle Cell Anemia in Cuba and its Prevention. Rev Cub Ped 1974;46:2-3.
6. Heredero L, Granda H, Suarez J, Altland K: An economic high speed electrophoretic screening system for hemoglobin S and other proteins. Humangenetik 1974;21:167-177.
7. Modell B, Kuliev A: The history of community genetics: The contribution of the haemoglobin disorders. Community Genet 1998;1:3-11.
8. Korner H, Rodríguez L, Fernández JL, Schulze M, Horn A, Heredero L, Witkowski R, Tinschert S, Oliva JA, Sommer D, Zwahr Ch, Prenzlau P, Cobet G, Gunter H: Maternal serum alpha-fetoprotein screening for neural tube defects and other disorders using an ultramicro-ELISA. Hum Genet 1986;73:60-63.
9. Rodríguez L, Heredero L, Padrón L: Incidencia de los defectos de cierre del tubo neural. Rev Cub Ped 1979;51:125-131.
10. Granda H, Gispert S, Dorticós A, Martin M, Cuadras Y, Calvo M, Martinez G, Zayas MA, Oliva JA, Heredero L: Cuban programme for prevention of sickle cell disease. Lancet 1991;337:152-153.
11. Granda H, Gispert S, Martínez G, Gómez M, Ferreira R, Collazo T, Magarino C, Heredero L: Results from a reference laboratory for prenatal diagnosis of sickle cell disorders in Cuba. Prenat Diagn 1994;14:659-662.
12. Dorticós A, Martin M, Echevarria P, Robaina M, Rodríguez M, Moras F, Granda H: Reproductive behaviour of couples at risk for sickle cell disease in Cuba: A follow-up study. Prenat Diagn 1997;17:737-742.
13. García T, Nordet I, Machín S, González A, Muñiz A, Martínez G, Wade M, Svarch E: Aportes al estudio de la drepanocitosis. Análisis clínico y hematológico en los primeros 5 años de vida. Rev Cub Hematol Inmunol Hemoter 1999;15:96-104.
14. Altland K, Heredero L: Diagnóstico prenatal de la anemia a hematies falciformes. Rev Cub Ped 1974;46:237-244.
15. Rodríguez L, Heredero L, López J, Fernández J, Oliva JA: Neural tube defects in Havana City: Incidence and prenatal diagnosis. Zentralbl Gynäkol 1982;104:1325-1327.
16. Rodríguez L, Heredero L, Oliva JA, Zaldivar O: Prenatal diagnosis by measurement of alpha-fetoprotein in Havana City. Prenat Diagn 1987;7:657-661.
17. Rodríguez L, Sánchez R, Hernández J, Carrillo L, Oliva JA, Heredero L: Results of 12 years' combined maternal serum alpha-fetoprotein and ultrasound monitoring for prenatal detection of fetal malformations in Havana City, Cuba. Prenat Diagn 1997;17:301-304.
18. Llanusa C, Sánchez R, Rodríguez L: Alpha-Fetoprotein Screening Program: Organizational aspects and psycho-social impact (Havana City). Rev Cub Med General Integral 1998; 141:43-47 (online in English available in MEDICC Review: www.medicc.org).
19. Vergel G, Sánchez R, Heredero L, Rodríguez L, Martínez A: Primary prevention of neural tube defects with folic acid supplementation: Cuban experience. Prenat Diagn1990;10:140-152.
20. Casana M, Menéndez F, Quintana J, Quiñones O, Lavista M: Cytogenetic prenatal diagnosis. Experiences and results from May 1984 to January 1985. Rev Cub Ped 1986;58:745-752.
21. Quintana J, Quiñones O, Méndez L, Lavista M, Gómez M, Dieppa N: Resultados del diagnóstico prenatal citogenético en las provincias occidentales de Cuba, 1984-1998. Rev Cub Genét Humana 1999;1:3 (or http://www. sigemec.sld.curcghesprevista_esprcgh_esp.htm).
22. Quintana J: Clinical cytogenetics in Cuba. Eur Cytogenet Assoc Newslett 1999;4:23-24.
23. Solis R, Heredero L, Carlos N, Quintana J, Casanave J, Días W, Martínez A, Orraca M, Becker D, Coto R, Estrada R, Rosquete R, Bencomo F, Barrios M, Rodríguez L, Fernández J: Detección sistemática de riesgo prenatal de cromosomopatías (Síndrome Down) mediante la evaluación combinada de HCG y AFP en suero materno y edad de la gestante. Internal publication Centro National de Genética Médica, Havana, 2001.
24. Ferrero M, Lotti F, Cendán I, Pérez A: Tendencias del Síndrome Down en Cuba. Su relación con la edad materna y la tasa de fecundidad. Rev Cub Ped 1998;70:141-147.
25. World Atlas of Birth Defects, ed 2. International Centre for Birth Defects of the International Clearinghouse for Birth Defects Monitoring Systems, Geneva, 2003.
26. Heredero L, Atencio J, Vega E, Gutiérrez E, Damián A: Diagnóstico Precoz de Fenilcetonuria en Cuba (estudio preliminar). Rev Cub Ped 1986;58:1.
27. Barrios B, Heredero L, Damiani A, Gutiérrez E, Cobet G, Machill G: Estudio de Hiperfenilalaninemias en el Occidente de Cuba. Rev Cub Ped 1989;61:99-106.
28. Barrios B, Gutiérrez E, Cuadras Y, Damiani A: Programa Nacional de Prevención de Hiperfenilalaninemias en Cuba. III Jornada Provincial de Ciencias Básicas Médicas 'Giró 2001'. Libro de resúmenes.
29. Gutiérrez E, Barrios B, Taboada L: Valoración clínica, psicológica y de laboratorio a niños con hiperfenilalaninemia benigna al nacimiento. Rev Cub Ped 2002;74:4.
30. Barrios B, Gutiérrez E: 4 años de Experiencia en el Diagnóstico de Errores Innatos del Metabolismo en Población con riesgo. III Jornada Provincial de Ciencias Médicas 'Girón 2001'. Libro de resúmenes.
31. Penchaszadeh VB, Heredero L, Punales-Morejón D, Rojas I, Pérez ET: Genetic counseling training in Cuba. Am J Hum Genet 1997; 6(suppl A):1098.
32. Anuario estadístico de salud 2000. Ministerio de Salud Publica de la Republica de Cuba. www.sld.cu/anuario/indice.html.
33. Orozco G, Nodarse A, Cordovés M, Auburger G: Autosomal dominant cerebellar ataxia. Clinical analysis of 263 patients from a homogeneous population in Holguín, Cuba. Neurology 1990;40:1369-1375.
34. Auburger G, Orozco G, Ferreira R, Gispert S, Paradoa M, Estrada M, García M, Farral M, Williamson R, Chamberlain S, Heredero L: Autosomal dominant ataxia: Genetic evidence for locus heterogeneity from a Cuban foundereffect population. Am J Hum Genet 1990;46:1163-1177.
35. Gispert S, Twells R, Orozco G, Brice A, Weber J, Heredero L, Sceufler K, Riley B, Allotey R, Nothers C, Hillermann R, Lunkes A, Khati C, Stevanin G, Hernández A, Magariño C, Klockgether T, Durr A, Chneiweiss H, Enczmann J, Farral M, Beckmann J, Mullan M, Wernet P, Agid Y, Freund J, Williamson R, Auburger G, Chamberlain S: Chromosomal assignment of the second locus for autosomoal dominant cerebellar ataxia (SCA2) to chromosome 12q23-24.1. Nat Genet 1993;4:295-299.
36. Pulst S, Nechiporuk A, Nechiporuc T, Sispert S, Xiao Ning C, Lopez I, Pearlman S, Starkman S, Orozco G, Lunkes A, DeJong P, Rouleau G, Auburger G, Korenberg J, Figueroa C, Sahba S: Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-276.
37. Paneque M, Santos N, Tamayo H, Reinaldo R, Velásquez L, Almagur L, Hechavarría R, Mourino T, Cruz T: Type 2 spinocerebellar ataxia: Acceptance of prenatal diagnosis in descendants at risk. Rev Neurol 2001;33:904-908.
38. Collazo T, Magariño C, Chávez R, Suardíaz B, Gispert S, Gómez M, Rojo M, Heredero L: Frequency of Delta-F508 mutation and XV2C/ KM19 haplotypes in Cuban cystic fibrosis families. Human Hered 1995;45:55-57.
39. Lantigua A, Moras F, Arechaederra M, Rojas I, Morales E, Rodríguez H, Viñas C, Noa C, Barrios B: Etiological characterization of 512 severely mentally retarded institutionalized patients in Havana. Community Genet 1999;2:184-189.
40. Lunkes A, Hartung U, Magariño C, Rodríguez M, Palmero A, Rodríguez L, Heredero L, Weisenbachu J, Weber J, Auburger G: Refinement of the OPA I locus on chromosome 3q28-q29 to a region of 2-8 cM, in one Cuban pedigree with autosomal dominant optic atrophy type Kjer. Am J Hum Genet 1993;57:968-970.
41. Bertoli A, Marcheco B, Llibre J, Gómez N, Borrajero I, Severijen E, Joose M, van Duijn C, Heredero L, Heutink P: A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease. Neurogenetics 2002;4:97-104.
42. Bertolí-Avella AM, Giroud-Benitez JL, Bonifati V, Álvarez-Gonzalez E, Heredero-Baute L, van Duijn CM, Heutink P: Suggestive linkage to chromosome 19 in a large Cuban family with late-onset Parkinson's disease. Mov Disord DOI: 10.1002/mds.10534.
43. Galjaard H: New names for old disciplines (review). J Inherit Metab Dis 2002;25:139-156.