Document Detail


Misdiagnosis of homozygous alpha-thalassaemia 1 may occur if polymerase chain reaction alone is used in prenatal diagnosis.
MedLine Citation:
PMID:  9203208     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
The polymerase chain reaction (PCR) is a quite sensitive diagnostic tool but its specificity may be hampered because of contamination of foreign DNA. In order to determine the diagnostic accuracy of PCR in diseases due to gross gene deletion, a total of 180 fetuses at risk of homozygous South-East Asian deletion (SEA) of alpha-globin genes were included for study. Both PCR and Southern hybridization (SH) were performed. By PCR, three of 43 affected fetuses were misdiagnosed as heterozygotes; four of 50 normal fetuses were misdiagnosed as heterozygotes; and four of 87 heterozygotes were misdiagnosed, two as normal and two as affected. Misdiagnosis in affected and normal fetuses was most likely due to maternal DNA contamination, while misdiagnosis in heterozygotes was probably due to a failed PCR. In the experiments with PCR in which we added DNA from a carrier woman to an affected or a normal fetus, a level of 1/64 and 1/16 contamination resulted in the appearance of normal and SEA breakpoint sequences, respectively. In the SH experiments using artificially contaminated DNA, a level of 1/4 contamination showed the normal and SEA bands, respectively, while a contamination level lower than 1/8 and 1/16 respectively did not reveal contamination bands. The high sensitivity of PCR makes it easier to amplify contaminated DNA. For accurate prenatal diagnosis, PCR should be performed very carefully and SH seems to be a useful back-up.
Authors:
T M Ko; L H Tseng; H L Hwa; P M Hsu; S F Li; J Y Chu; P J Lu; T Y Lee; S M Chuang
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Prenatal diagnosis     Volume:  17     ISSN:  0197-3851     ISO Abbreviation:  Prenat. Diagn.     Publication Date:  1997 Jun 
Date Detail:
Created Date:  1997-08-21     Completed Date:  1997-08-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8106540     Medline TA:  Prenat Diagn     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  505-9     Citation Subset:  IM    
Affiliation:
Department of Obstetrics and Gynecology, National Taiwan University Hospital, College of Medicine, Taipei, Taiwan.
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MeSH Terms
Descriptor/Qualifier:
Diagnostic Errors*
Female
Gene Deletion
Globins / genetics*
Homozygote*
Humans
Multigene Family
Polymerase Chain Reaction*
Prenatal Diagnosis / methods*
Reproducibility of Results
Retrospective Studies
Sensitivity and Specificity
alpha-Thalassemia / diagnosis*,  genetics
Chemical
Reg. No./Substance:
9004-22-2/Globins
Comments/Corrections
Comment In:
Prenat Diagn. 1998 Apr;18(4):411   [PMID:  9602494 ]

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


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