Thalassemia gene detection and the prenatal diagnosis outcomes of pregnant women in Guiyang City

Objective: To study thalassemia gene detection and to analyze the prenatal diagnoses of pregnant women at the Guiyang Maternity and Child Health Care Hospital and Guiyang Children's Hospital. Methods: Prenatal diagnostic genetic testing was performed on pregnant women with anemia (n = 2,306) at Guiyang Maternity and Child Health Care Hospital and Guiyang Children's Hospital. For each positive patient whose spouse also agreed to undergo thalassemia genetic testing, genetic testing in the amniotic fluid for prenatal diagnosis was carried out as their offspring were more likely to have intermediate or severe thalassemia. Results: Among the 2,306 samples, there were 213 positive cases, including 114 cases of alpha-thalassemia, 85 cases of beta-thalassemia and 14 cases of alpha/beta-thalassemia. -(SEA)/alpha alpha and -alpha(3.7)/alpha alpha were the most common mutation types of the alpha-thalassemia gene in pregnant women, while beta(41-42)/beta(N) and beta(IVS-II-654)/beta(N) were the most common mutation types of the beta-thalassemia gene. Genetic testing in the amniotic fluid was performed for 82 couples with high-risk gene combinations. Sixty-four cases were positive, and 18 cases were completely normal. Conclusion: Genetic testing for thalassemia and early prenatal diagnosis can effectively avoid the birth of infants with intermediate and severe thalassemia by choosing to terminate the pregnancy, which is of great significance for the improvement of eugenics and postnatal care.