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Early Prenatal Diagnosis of Thalassemia: The First Report of Experience in Mainland China

Can Liao, Min Pan, Jin Han, Xin Yang, Jian Li, Ru Li, Dong‐Zhi Li

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Abstract

In this study, we report our experience with chorionic villus sampling (CVS) for prenatal diagnosis of thalassemia in mainland China. During a 4-year period, 308 pregnant women chose to have CVS for prenatal diagnosis. Chorionic villus sampling was successful in all cases, and post-CVS abortion was seen in only two cases (0.6%). DNA diagnosis was correctly done in 307 (99.7%) prenatal samples but maternal contamination was found in one (0.3%) subject. In total, 77 pregnancies were found with an affected fetus, and all of the affected pregnancies were terminated within 1 week after the CVS procedure. Our experience indicates that CVS is a feasible and effective technique for prenatal diagnosis of thalassemia.

About this research paper

What this paper is about

In this study, we report our experience with chorionic villus sampling (CVS) for prenatal diagnosis of thalassemia in mainland China. During a 4-year period, 308 pregnant women chose to have CVS for prenatal diagnosis. Chorionic villus sampling was successful in all cases, and post-CVS abortion was seen in only two cases (0.6%). DNA diagnosis was correctly done in 307 (99.7%) prenatal samples but maternal contamination was found in one (0.3%) subject. In total, 77 pregnancies were found with an affected fetus, and all of the affected pregnancies were terminated within 1 week after the CVS procedure. Our experience indicates that CVS is a feasible and effective technique for prenatal diagnosis of thalassemia.

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Available abstract

In this study, we report our experience with chorionic villus sampling (CVS) for prenatal diagnosis of thalassemia in mainland China. During a 4-year period, 308 pregnant women chose to have CVS for prenatal diagnosis. Chorionic villus sampling was successful in all cases, and post-CVS abortion was seen in only two cases (0.6%). DNA diagnosis was correctly done in 307 (99.7%) prenatal samples but maternal contamination was found in one (0.3%) subject. In total, 77 pregnancies were found with an affected fetus, and all of the affected pregnancies were terminated within 1 week after the CVS procedure. Our experience indicates that CVS is a feasible and effective technique for prenatal diagnosis of thalassemia.

Key concepts: Chorionic villus sampling, Prenatal diagnosis, Thalassemia, Obstetrics, Medicine, Abortion, Fetus, Mainland China

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