Document Detail


Can amnio-polymerase chain reaction alone replace conventional cytogenetic study for women with positive biochemical screening for fetal Down syndrome?
MedLine Citation:
PMID:  12738140     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
To determine whether amnio-polymerase chain reaction (amnio-PCR) can replace conventional cytogenetic study for confirming the karyotype of fetuses in women with positive biochemical screening for fetal Down syndrome. To check the accuracy of this technique in our laboratory, we first compared the amnio-PCR results with those of conventional cytogenetic study in 235 patients referred from June 1999 to December 2001 for prenatal diagnosis in a referral center in Hong Kong. We then reviewed the results of 1526 amniotic fluid cultures performed for positive fetal Down syndrome screening between January 1997 and December 2001 and classified them as detectable or not detectable by amnio-PCR, using the assumption that we had replaced conventional cytogenetic study with amnio-PCR. The 235 amnio-PCR results were all informative, without a false-positive or false-negative result. Of the 1526 cases with positive fetal Down syndrome screening and no ultrasound abnormalities, only two cases of sex chromosome abnormalities and two cases of marker chromosomes would have been missed if conventional cytogenetic study had been replaced by amnio-PCR.Amnio-PCR can be an alternative to conventional cytogenetic study for women with positive biochemical screening for fetal Down syndrome and no demonstrable fetal structural abnormality.
Authors:
Wing Cheong Leung; Elizabeth T Lau; Terence T Lao; Mary Hoi Yin Tang
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Obstetrics and gynecology     Volume:  101     ISSN:  0029-7844     ISO Abbreviation:  Obstet Gynecol     Publication Date:  2003 May 
Date Detail:
Created Date:  2003-05-09     Completed Date:  2003-06-03     Revised Date:  2009-11-03    
Medline Journal Info:
Nlm Unique ID:  0401101     Medline TA:  Obstet Gynecol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  856-61     Citation Subset:  AIM; IM    
Affiliation:
Department of Obstetrics and Gynaecology, Queen Mary Hospital, University of Hong Kong, People's Republic of, Hong Kong, China. leungwc65@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
Adult
Amniocentesis*
Down Syndrome / diagnosis*
Female
Humans
Karyotyping
Polymerase Chain Reaction*
Pregnancy
Prenatal Diagnosis*
Retrospective Studies
Ultrasonography, Prenatal
Comments/Corrections
Comment In:
Obstet Gynecol. 2003 May;101(5 Pt 1):840-2   [PMID:  12738136 ]

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


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