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Original ArticleOpen Access
Prenatal Diagnosis of a- Thalassemia-! (SEA type) by Chorionic Villus Sampling
Chanprapaph P 
,
Tongsong T ,
Wanapirak C ,
Sirichotiyakul S ,
Sanguansermsri T
,
Tongsong T ,
Wanapirak C ,
Sirichotiyakul S ,
Sanguansermsri T THEERA TONGSONG, M.D.*,
SUPATTRA SIRICHOTIYAKUL, M.D.*,
Objective : To describe the experience of prenatal diagnosis for Hb Bart's disease, by
chorionic villus sampling (CVS) with DNA analysis.
Design : Descriptive study
Settings : Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai
University.
Subjects : Sixteen high risk pregnancies at risk of Hb Bart's disease who were eligible for
CVS criteria between 1 January, 1999 and May 31, 2000.
Material and Method : Fetal villi were obtained by either transcervical (TC) or transabdo-
minal (TA) CVS route to extract DNA and detect for a.-thal-1 gene deletion (SEA type) with modi-
fied Chang's method. The CVS results were confirmed by either serial ultrasound or cordocentesis
or diagnosis after pregnancy termination.
Main outcome measures : The efficacy, safety and pregnancy outcomes.
Results : CVS was successfully done in all of 16 cases (5 with TC and 11 with T A), The
mean gestational age was 13.25
เธ‘
2.9 weeks. The procedure time for TA was shorter than that of
TC ( 4.64
เธ‘
5.4
vs
10.4
เธ‘
11.3 min). The CVS result showed as follows: 3 normal fetuses, 7 a.-thal-1
carriers, 4 fetal Hb Bart's, 1 misdiagnosis and 1 failure to diagnosis due to technical error. The sen-
sitivity and specificity were 100 per cent (4/4) and 90.91 per cent (10/11), respectively. One case
of Hb Bart's misdiagnosis and one failure case were later confirmed for a.-thal-1 trait and a.-thal-11
Hb E trait by cordocentesis, respectively. The pregnancy outcomes included 11 livebirths, 4 termi-
nated cases and 1 fetal loss of continuing pregnancies. No serious complications occurred.
Conclusion : This preliminary experience suggests that CVS is an effective method for
early prenatal diagnosis of fetal Hb Bart's.
Key word : Prenatal Diagnosis, Chorionic Villus Sampling, Thalassemia, a.-Thalassemia-! (SEA
Type), Hb Bart's, Pregnancy Outcome
SUPATTRA SIRICHOTIYAKUL, M.D.*,
Objective : To describe the experience of prenatal diagnosis for Hb Bart's disease, by
chorionic villus sampling (CVS) with DNA analysis.
Design : Descriptive study
Settings : Department of Obstetrics and Gynecology, Faculty of Medicine, Chiang Mai
University.
Subjects : Sixteen high risk pregnancies at risk of Hb Bart's disease who were eligible for
CVS criteria between 1 January, 1999 and May 31, 2000.
Material and Method : Fetal villi were obtained by either transcervical (TC) or transabdo-
minal (TA) CVS route to extract DNA and detect for a.-thal-1 gene deletion (SEA type) with modi-
fied Chang's method. The CVS results were confirmed by either serial ultrasound or cordocentesis
or diagnosis after pregnancy termination.
Main outcome measures : The efficacy, safety and pregnancy outcomes.
Results : CVS was successfully done in all of 16 cases (5 with TC and 11 with T A), The
mean gestational age was 13.25
เธ‘
2.9 weeks. The procedure time for TA was shorter than that of
TC ( 4.64
เธ‘
5.4
vs
10.4
เธ‘
11.3 min). The CVS result showed as follows: 3 normal fetuses, 7 a.-thal-1
carriers, 4 fetal Hb Bart's, 1 misdiagnosis and 1 failure to diagnosis due to technical error. The sen-
sitivity and specificity were 100 per cent (4/4) and 90.91 per cent (10/11), respectively. One case
of Hb Bart's misdiagnosis and one failure case were later confirmed for a.-thal-1 trait and a.-thal-11
Hb E trait by cordocentesis, respectively. The pregnancy outcomes included 11 livebirths, 4 termi-
nated cases and 1 fetal loss of continuing pregnancies. No serious complications occurred.
Conclusion : This preliminary experience suggests that CVS is an effective method for
early prenatal diagnosis of fetal Hb Bart's.
Key word : Prenatal Diagnosis, Chorionic Villus Sampling, Thalassemia, a.-Thalassemia-! (SEA
Type), Hb Bart's, Pregnancy Outcome
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