Genetic Analysis and Prenatal Diagnosis for Thalassemia of Pregnant Women in Wuhan Area of China / 中国实验血液学杂志
Journal of Experimental Hematology
;
(6): 1919-1924, 2019.
Artigo
em Chinês
| WPRIM
| ID: wpr-781518
ABSTRACT
OBJECTIVE@#To investigate the common genotypes of thalassemia of the pregnant woman in Wuhan area of China, and to make the prenantal gentic diagnosis for the fetus at high risk of thalassemia.@*METHODS@#A total of 357 pregnant woman with the primary positive screening in Wuhan area were included in this study. Genotypes were measured with PCR-flow cytometry, and fluorescence hybridization was used for detecting thalassmia gene. The husbands of the pregnant women with thalassmia were recalled for genetic analysis of thalassemia, and 9 cases of fetuses with high risk of thalassemia were detected by amniocontesis after genetic counseling.@*RESULTS@#In 357 cases of the pregnant women in Wuhan area, the 214 cases were diagnosed as thalassemia, 80 cases were diagnosed as alpha thalassemia (up to 90%), whose genotypes were determind as --/αα (78.75%) and -α/αα (15.00%), while 133 cases were determind with genotype of IVS-2-654/N (43.61%), CD41-42/N (20.30%) and CD17/N (19.55%) in beta thalassemia (up to 80%). 9 prenatal diagnosis continued pregnancy included 1case of -α/--, 1 case of -α/αα, 2 cases of --/αα, 2 cases of IVS-2-654/N and 3 cases of normal, however, the pregnancy in prenatal diagnosis of -α/-- voluntarily was terminated after genetic counseling. Follow-up results after delivery were consistent with prenatal diagnosis.@*CONCLUSION@#Minor and static thalassemia were very common in Wuhan area. Genetic detection after primary screening, genetic counseling and prenatal diagnosis in pregnant women could provide a theoretical basis for the development of regional specific prevention of intermedius and critical thalassemia which is meaning for rearing and bearing better children.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
China
/
Testes Genéticos
/
Talassemia beta
/
Talassemia alfa
/
Genótipo
Tipo de estudo:
Estudo diagnóstico
/
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Gravidez
País/Região como assunto:
Ásia
Idioma:
Chinês
Revista:
Journal of Experimental Hematology
Ano de publicação:
2019
Tipo de documento:
Artigo
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