Document Detail


Prenatal diagnosis of beta-thalassemia in Southern China.
MedLine Citation:
PMID:  16376479     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
OBJECTIVE: To control the birth of thalassemic children in Southern China. STUDY DESIGN: 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:
Dongzhi Li; Can Liao; Jian Li; Xingmei Xie; Yining Huang; Huizhu Zhong; Jiaxue Wei
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Publication Detail:
Type:  Journal Article     Date:  2005-12-22
Journal Detail:
Title:  European journal of obstetrics, gynecology, and reproductive biology     Volume:  128     ISSN:  0301-2115     ISO Abbreviation:  Eur. J. Obstet. Gynecol. Reprod. Biol.     Publication Date:    2006 Sep-Oct
Date Detail:
Created Date:  2006-09-11     Completed Date:  2007-01-04     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0375672     Medline TA:  Eur J Obstet Gynecol Reprod Biol     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  81-5     Citation Subset:  IM    
Affiliation:
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong 510180, PR China. dongzhi3@yahoo.com.cn
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MeSH Terms
Descriptor/Qualifier:
Abortion, Induced
Automation
China / epidemiology
Chromatography, High Pressure Liquid
Developing Countries
Female
Genetic Counseling
Globins / genetics
Humans
Mass Screening
Microsatellite Repeats
Polymerase Chain Reaction
Pregnancy
Pregnancy Outcome
Prenatal Diagnosis / methods*
beta-Thalassemia / diagnosis*,  epidemiology,  genetics*
Chemical
Reg. No./Substance:
9004-22-2/Globins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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