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    
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.
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
Related Documents :
1645368 - Detection of group b and c rotaviruses by polymerase chain reaction.
9828408 - A nested polymerase chain reaction for the detection of genomic dna of myxobolus cerebr...
10725058 - Detection and differentiation of campylobacter jejuni and campylobacter coli in broiler...
8876638 - Detection of human t lymphotrophic virus type i (htlv-i) dna and mrna in individual cel...
17492398 - Silencing of endo-exonuclease expression sensitizes mouse b16f10 melanoma cells to dna ...
23406418 - Laci-dna-iptg loops: equilibria among conformations by single-molecule fret.
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    
Department of Obstetrics and Gynecology, National Taiwan University Hospital, College of Medicine, Taipei, Taiwan.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Diagnostic Errors*
Gene Deletion
Globins / genetics*
Multigene Family
Polymerase Chain Reaction*
Prenatal Diagnosis / methods*
Reproducibility of Results
Retrospective Studies
Sensitivity and Specificity
alpha-Thalassemia / diagnosis*,  genetics
Reg. No./Substance:
Comment In:
Prenat Diagn. 1998 Apr;18(4):411   [PMID:  9602494 ]

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

Previous Document:  Prenatal diagnosis of haemoglobin Bart's disease by cordocentesis at 12-14 weeks' gestation.
Next Document:  First-trimester sonography of physiological midgut herniation and early diagnosis of omphalocele.