Document Detail

Prenatal diagnosis of beta-thalassemia in Southern China.
MedLine Citation:
PMID:  16376479     Owner:  NLM     Status:  MEDLINE    
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.
Dongzhi Li; Can Liao; Jian Li; Xingmei Xie; Yining Huang; Huizhu Zhong; Jiaxue Wei
Related Documents :
10895449 - Transabdominal first trimester embryofetoscopy as a potential approach to early in uter...
12116669 - Prenatal diagnosis, genetics and reproductive decision-making.
9399349 - Minimally-invasive early prenatal diagnosis using fluorescence in situ hybridization on...
18748469 - Prenatal diagnosis by amniocentesis in 800 pregnancies.
14706299 - Diagnosis and management of cervical teratomas.
24707419 - Pyoderma gangrenosum in two successive pregnancies complicating caesarean wound.
21647999 - Schizencephaly prevalence, prenatal diagnosis and clues to aetiology; a register based ...
17175469 - Comparison of day 2 tubal embryo transfer with day 3 embryo transfer into the uterus of...
857089 - Pregnancy diagnosis in the guinea pig.
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    
Prenatal Diagnostic Center, Guangzhou Maternal & Neonatal Hospital, Guangzhou Medical College, Guangzhou, Guangdong 510180, PR China.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Abortion, Induced
China / epidemiology
Chromatography, High Pressure Liquid
Developing Countries
Genetic Counseling
Globins / genetics
Mass Screening
Microsatellite Repeats
Polymerase Chain Reaction
Pregnancy Outcome
Prenatal Diagnosis / methods*
beta-Thalassemia / diagnosis*,  epidemiology,  genetics*
Reg. No./Substance:

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

Previous Document:  New insights on brain stem death: from bedside to bench.
Next Document:  Laparoscopic surgery versus antegrade scrotal sclerotherapy: Retrospective comparison of two differe...