2010, Number 3
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Rev Cub Gen 2010; 4 (3)
Investigation of congenital malformations by the determination of alphafetoprotein in maternal serum. Las Tunas, 1986-2008
Orive RNM, Varona PF, Martínez RG, Hechavarría RN, Raad LAF
Language: Spanish
References: 19
Page: 17-22
PDF size: 885.47 Kb.
ABSTRACT
Birth defects are among the first causes of death in children and affect their quality of life and of their families, frequently demand hospitalization and produce high costs. Screening the levels of alphafetoprotein in maternal serum produced by the fetus is a valuable tool in the diagnosis of a number of birth defects, as confirmed by genetic ultrasound. In order to describe the results of the implementation of a screening program for birth defects in Las Tunas province from 1986 to 2008, as well as its impact in the reduction of the mortality rate in the territory, the registries available at the Provincial Center of Medical Genetics were analyzed and time series for the previously mentioned period were elaborated. The annual positivity index for the alphafetoprotein test, the percentage of cases confirmed by ultrasound, the coverage by municipality and the yearly and decade provincial average of cases were calculated. During the twenty-three years of existence of the screening program in Las Tunas, a total of 155 544 pregnant women were investigated and 11 608 out of them showed increased alphafetoprotein levels. The historical positivity index was 7,7%, although the obstetrical conditions were the most frequent reasons to account for the increased concentrations. A total of 311 malformations were diagnosed, out of which 173 were closure defects of the neural tube, and 288 pregnancies were interrupted. The program coverage achieved during 2008 in the eight municipalities of the province was above 95%.
REFERENCES
Centers for Disease Control and Prevention. Update on Overall Prevalence of Major Birth Defects - Atlanta, Georgia, 1978- 2005. MMWR. 2008;57(01):1-5.
Centers for Disease Control and Prevention. QuickStats: Infant Mortality Rates for 10 Leading Causes of Infant Death - United States, 2005. MMWR. 2007;56(42):1115.
Centers for Disease Control and Prevention. Hospital Stays, Hospital Charges, and In-Hospital Deaths Among Infants with Selected Birth Defects - United States, 2003. MMWR 2007;56(02):25-29.
Piloto M, Sanabria MI, Menéndez R. Diagnóstico prenatal y atención de las malformaciones congénitas y otras enfermedades genéticas. Rev Cubana Obstet Ginecol 2001;27(3):233-40.
Wax JR. Unexplained elevated midtrimester maternal serum levels of alpha fetoprotein, human chorionic gonadotropin, or low unconjugated estriol: recurrence risk and association with adverse perinatal outcome. J Matern Fetal Med. 2000 May- Jun;9(3):161-4.
Sayan NC, Canda MT, Ahmet N, Arda S, Süt N, Varol FG. The association of triple-marker test results with adverse pregnancy outcomes in low-risk pregnancies with healthy newborns. Arch Gynecol Obstet 2008;277:47–53.
Cameron M, Moran P. Prenatal screening and diagnosis of neural tube defects. Prenat Diagn 2009;29:402–411.
Smith G, Shah I, White I, Pell J, Crossley J, Dobbie R. Maternal and biochemical predictors of antepartum stillbirth among nulliparous women in relation to gestational age of fetal death. BJOG 2007;114:705–714.
Gagnon A. Obstetrical complications associated with abnormal maternal serum markers analytes. J Obstet Gynaecol Can. 2008;30(10):918-49.
Wald NJ, Rudnicka AR, Bestwick JP. Sequential and contingent prenatal screening for Down syndrome. Prenat Diagn. 2006;26:769–777.
Llamos AJ, Llamos A, Martínez de Santelisces A, Powell ZL, Pérez E. Análisis de las malformaciones congénitas detectadas por el programa alfafetoproteína-ultrasonido genético. Rev Cubana Med Gen Integr 2007;23(1).
González G, Gómez R, González Y. Evaluación de la eficacia diagnóstica por ultrasonografía en malformaciones congénitas mayores. Rev Cubana Obstet Ginecol 2002;28(3).
Taboada N, León C, Martínez S, Díaz O, Quintero K. Comportamiento de algunos factores de riesgo para malformaciones congénitas mayores en el municipio de Ranchuelo. Rev Cubana Obstet Ginecol 2006;32(2).
Ferrero ME, Pérez MT, Álvarez R, Rodríguez L. Comportamiento clínico-epidemiológico de los defectos congénitos en la Ciudad de La Habana. Rev Cubana Pediatr 2005;77(1).
Pérez M, Mulet E, Hartmann A. Diagnóstico ultrasonográfico de malformaciones congénitas. Nuestra experiencia en el período 1983-1995. Rev Cubana Obstet Ginecol 1997;23(1):53-58.
Stoll C, Alembik Y, Dott B, Roth M. Impact of prenatal diagnosis on livebirth prevalence of children with congenital anomalies. Ann Genet 2000; 45(3):115.
Pelegrino RT, Velázquez L, Fernández, Pelegrino B. Malformaciones congénitas diagnosticadas por ultrasonido, 15 años de trabajo. MULTIMED 1998;2(3).
Dyce E, Chikuy M. Registro, incidencia y diagnóstico prenatal de las malformaciones congénitas mayores más severas. Rev Cubana Med Gen Integr 1999;15(4):403-8.
García Y, Fernández RM, Rodríguez M. Incidencia de las malformaciones congénitas mayores en el recién nacido. Rev Cubana Pediatr 2006;78(4).