Prenatal diagnosis of alpha-thalassemia-1 (SEA type) by chorionic villus sampling.
Article
in English
| IMSEAR
| ID: sea-39403
ABSTRACT
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 ANDMETHOD:
Fetal villi were obtained by either transcervical (TC) or transabdominal (TA) CVS route to extract DNA and detect for alpha-thal-1 gene deletion (SEA type) with modified Chang's method. The CVS results were confirmed by either serial ultrasound or cordocentesis or diagnosis after pregnancy termination. MAIN OUTCOMEMEASURES:
The efficacy, safety and pregnancy outcomes.RESULTS:
CVS was successfully done in all of 16 cases (5 with TC and 11 with TA), The mean gestational age was 13.25 +/- 2.9 weeks. The procedure time for TA was shorter than that of TC (4.64 +/- 5.4 vs 10.4 +/- 11.3 min). The CVS result showed as follows 3 normal fetuses, 7 alpha-thal-1 carriers, 4 fetal Hb Bart's, 1 misdiagnosis and 1 failure to diagnosis due to technical error. The sensitivity 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 alpha-thal-1 trait and alpha-thal-1/ Hb E trait by cordocentesis, respectively. The pregnancy outcomes included 11 livebirths, 4 terminated 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.
Full text:
Available
Index:
IMSEAR (South-East Asia)
Main subject:
Female
/
Humans
/
Pregnancy
/
Pregnancy Outcome
/
Chorionic Villi Sampling
/
Polymerase Chain Reaction
/
Alpha-Thalassemia
/
Pregnancy, High-Risk
/
Fetal Diseases
Language:
English
Year:
2002
Type:
Article
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