title: Prenatal diagnosis of beta-thalassemia in Southern China.
abstract: OBJECTIVE
  To control the birth of thalassemic children in Southern China.
  
  
  METHODS
  DNA-based diagnosis was offered on fetal tissues in pregnancies when beta-globin gene mutations were identifiable in both parents using polymerase chain reaction (PCR)-reverse dot blot (RDB) assay. An automated high-performance liquid chromatography (HPLC) system was used to analyze fetal hemoglobin in pregnancies when mutation was unidentified in at least one parent. Fetal samplings were collected by chorionic villi sampling (CVS) in the first trimester, and by amniocentesis or cordocentesis in the second trimester. Maternal contamination of fetal DNA was ruled out by short tandem repeats (STR) analysis.
  
  
  RESULTS
  Five hundered and forty-five fetuses of 540 at-risk pregnancies were performed prenatal diagnosis. Out of 540 fetuses tested by DNA analysis, 150 were found to be normal, 257 were carriers, whereas 133 were affected. Out of five fetuses diagnosed by HPLC, one fetus was affected and four were unaffected. Totally, 133 pregnancies with affected fetuses, except for one twin pregnancy, were voluntarily terminated, leading to a marked reduction of severe beta-thalassemia in this region.
  
  
  CONCLUSIONS
  Our prenatal diagnosis strategy proved to be highly effective. DNA- and HPLC-based testing could enable prenatal diagnosis of beta-thalassemia in all at-risk pregnancies.
authors.affiliation: Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong 510180, PR China. dongzhi3@yahoo.com.cn
authors.forename: Dongzhi
authors.initials: D
authors.lastname: Li
authors.forename: Can
authors.initials: C
authors.lastname: Liao
authors.forename: Jian
authors.initials: J
authors.lastname: Li
authors.forename: Xingmei
authors.initials: X
authors.lastname: Xie
authors.forename: Yining
authors.initials: Y
authors.lastname: Huang
authors.forename: Huizhu
authors.initials: H
authors.lastname: Zhong
authors.forename: Jiaxue
authors.initials: J
authors.lastname: Wei
mesh_terms: D000028:Abortion, Induced; D001331:Automation; D002681:China / Q000453:epidemiology; D002851:Chromatography, High Pressure Liquid; D003906:Developing Countries; D005260:Female; D005817:Genetic Counseling; D005914:Globins / Q000235:genetics; D006801:Humans; D008403:Mass Screening; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011256:Pregnancy Outcome; D011296:Prenatal Diagnosis / Q000379:methods*; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*
chemical_list: D005914:Globins