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| Retrospective analysis of prenatal diagnosis of 363 thalassemia couples in Huizhou area of Guangdong province |
| Prenatal Diagnosis Center of Huizhou City First Maternal and Child Health Care Hospital, Huizhou, Guangdong, 516007 |
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Abstract Objective: To analyze situation of genetic diagnosis of fetuses and followed up of couples carried thalassemia gene in Huizhou area, and to provide evidence for clinical genetic counseling. Methods: Retrospective data came from 363 couples with thalassemia gene who had admitted to prenatal diagnosis center of Huizhou city first maternal and child health care Hospital from January 2015 to December 2016. DNA had been extracted from fetal samplings, which were collected by chorionic villi sampling (CVS) in the first trimester, or by amniocentesis or cordocentesis in the second trimester. Thalassemic gene mutations were identified used Gap-PCR and polymerase chain reaction (PCR)-reverse dot blot (RDB) assay. The pregnancy outcomes were followed up till to a year after prenatal diagnosis. Results: In the 363 couples carried thalassemia gene, 47 (19.9%)fetuses were normal, 60 (47.2%) fetuses were heterozygous, and 53 (35.7%) fetuses were severe thalassemia. In 56 couples carried β-thalassemia gene, 10 fetuses were normal(17.9%), 32 (57.1%) fetuses were heterozygous, and 14 (25%) fetuses were severe thalassemia. In 71 couples with wife and husband all carried double heterozygous α-thalassemla/β-thalassemia, 36(50.7%) fetuses were normal fetuses, 15(21.1%) fetuses were α-thalassemla or β-thalassemia heterozygotes, 4(0.06%) fetuses were Bart’s hydrops syndrome, 13(18.3%) fetuses were double heterozygous α-thalassemla/-thalassemia, and 3(0.04%) fetuses were compound heterozygous for beta thalassemia. 57 fetuses with moderate to severe αthalassemia were induced abortion. 13 of the 14 fetuses with moderate to severe β-thalassemia were also induced abortion, but only one fetuses with severe βthalassemia was remained to birth. Conclusion: Child with severe thalassemia can be effectively avoided by the free prenatal screening and prenatal diagnosis program on thalassemia. It should be needed to strengthen the propaganda and follow-up work for couples with severe thalassemia fetus, and psychological intervention measures should also be improved for these couples. In order to implement the prevention and control of thalassemia, more effective measurement should be used to avoid the birth of fetuses with severe thalassemia.
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