title: Early prenatal diagnosis of thalassemia: the first report of experience in mainland China.
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.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Women & Children Medical Center, Guangzhou Medical College, Guangdong, People's Republic of China.
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Min
authors.initials: M
authors.lastname: Pan
authors.forename: Jin
authors.initials: J
authors.lastname: Han
authors.forename: Xin
authors.initials: X
authors.lastname: Yang
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Ru
authors.initials: R
authors.lastname: Li
authors.forename: Dong-Zhi
authors.initials: DZ
authors.lastname: Li
mesh_terms: D000025:Abortion, Eugenic; D000328:Adult; D044466:Asian People; D002681:China; D015193:Chorionic Villi Sampling / Q000379:methods*; D042241:Early Diagnosis; D005240:Feasibility Studies; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D011247:Pregnancy; D015203:Reproducibility of Results; D012189:Retrospective Studies; D012680:Sensitivity and Specificity; D013789:Thalassemia / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics; D055815:Young Adult