Prenatal Diagnosis of Severe Thalassemic Disease at Regional Hospital: 30 Cases Experience at Lampang Hospital

Abstract

Objective To study prenatal diagnosis of severe thalassemic disease in the aspect of methods of prenatal diagnosis, complications, success rate, results and pregnancy outcomes at a regional Hospital.

Methods We chose 2 methods of prenatal diagnosis in our study :- fetal blood sampling and chorionic villi sampling which performed at Lampang Hospital. Fetal villi specimens were sent for DNA analysis by PCR technique and fetal blood specimens were sent for hemoglobin typing by HPLC method at Department of Pediatrics, Faculty of Medicine, Chiang Mai University.

Results Mean maternal age was 26 years and gestational ages were between 14-24 weeks. 27 fetuses were diagnosed prenatally by fetal blood sampling and 3 fetuses by chorionic villi sampling. The results of analysis revealed 6 severe thalassemic fetuses, 20 carriers and 4 normal fetuses. There was no sampling failure. There were 22 livebirths, 1 abortion, 2 dead fetuses in utero at 35 weeks and 38 weeks of gestation and 5 severe thalassemic fetuses in which therapeutic abortion were performed. 28 umbilical cord blood samples were sent for confirmed analysis postnatally and postabortion and all results were correct with prenatal diagnosis.

Conclusion Prenatal diagnosis of thalassemia at Lampang Hospital revealed acceptable complication rates and accurate results. Regional hospitals, therefore, should be able to provide prenatal diagnosis for thalassemic diseases by collaborating with university hospitals to obtain laboratory assistances. This collaboration will lead to a more effective strategy in controlling this disease in Thailand.