การวินิจฉัยก่อนคลอดของหญิงตั้งครรภ์ในโรงพยาบาลพระมงกุฎเกล้าและค่าใช้จ่ายในการตรวจกรองโรคโลหิตจางธาลัสซีเมียในมุมมองต้นทุนของค่าตรวจทางห้องปฏิบัติการ

Abstract

In Thailand the prevalence of thalassemia carrier is 30% and new cases are born approximately 1% each year. In case of ineffective prevention and control many cases of severe thalassemia disease are treated with transfusion and iron chelation which are very cumbersome and costly. Therefore  prenatal diagnosis of thalassemiais very important for prevention of new cases. Purpose: 1) To find the severe cases of thalassemia which can bediagnosed by prenatal diagnosis (PND). 2) To evaluate the cost of laboratory for screening and PND. Materials and Methods: The prenatal screening and prevention of severe thalassemia was conducted in the ANC of pregnant women at Phramongkutklao Hospital between April 2004 to March 2005. Results: there were 2,954 cases which 1,394 cases were abnormal screening tests. Hb type were performed in 862 pregnancies (61.84%) and 673 husbands (48.28%). Eighteen couples were abnormal screening test and underwent to confirm by PCR for a-thalassemia 1 eight  of which were at risk for Hb Bast’s hydrops fetalis. One and fifteen were at risk for homozygous b-thalassemiaand b-thal/Hb E respectively. Only half of the twenty-four cases accepted PND. One pregnant woman was prenataldiagnosed as Hb Bart’s hydrops fetalis and terminated. The other PND results showed that six were normal two were Hb E trait two were a-thalassemia 1 trait and unknown mutation b-thal/Hb E Seven cases refused PND 4 casespresented with late ANC and one cases had spontaneous abortion. The total cost of laboratory tests for screeningand PND were 879,420 baht. Conclusion: This study showed that screening programme of severe thalassemia in Phramongkutklao  Hospital were markedly improved by increasing number of pregnant women and husbands 61.48% and 48.28% respectively. In addition education of thalassemia in pregnant women prepare personnel for the screeningprogramme and develop PND laboratory will effectively improve the prevention and control of thalassemia.