PMID- 12968936
OWN - NLM
STAT- MEDLINE
DCOM- 20031215
LR  - 20220408
IS  - 1470-1626 (Print)
IS  - 1470-1626 (Linking)
VI  - 126
IP  - 3
DP  - 2003 Sep
TI  - Rapid and simple prenatal diagnosis of common chromosome disorders: advantages 
      and disadvantages of the molecular methods FISH and QF-PCR.
PG  - 279-97
AB  - Molecular techniques have been developed for prenatal diagnosis of the most 
      common chromosome disorders (trisomies 21, 13, 18 and sex chromosome 
      aneuploidies) where results are available within a day or two. This involves 
      fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells 
      or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. 
      Guidance is provided on the technological pitfalls in setting up and running 
      these methods. Both methods are reliable, and the risk for misdiagnosis is low, 
      although slightly higher for FISH. FISH is also more labour intensive than 
      QF-PCR, the latter lending itself more easily to automation. These tests have 
      been used as a preamble to full chromosome analysis by microscopy. However, there 
      is a trend to apply the tests as 'stand-alone' tests for women who are at 
      relatively low risk of having a baby with a chromosome disorder, in particular 
      that associated with advanced age or results of maternal serum screening 
      programmes. These women comprise the majority of those currently offered prenatal 
      diagnosis with respect to fetal chromosome disorders and if introduced on a 
      larger scale, the use of FISH and QF-PCR would lead to substantial economical 
      savings. The implication, on the other hand, is that around one in 500 to one in 
      1000 cases with a mentally and/or physically disabling chromosome disorder would 
      remain undiagnosed.
FAU - Hulten, Maj A
AU  - Hulten MA
AD  - Department of Biological Sciences, University of Warwick, Coventry CV4 7AL, UK. 
      maj.hulten@warwick.ac.uk
FAU - Dhanjal, Seema
AU  - Dhanjal S
FAU - Pertl, Barbara
AU  - Pertl B
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - Reproduction
JT  - Reproduction (Cambridge, England)
JID - 100966036
RN  - 0 (DNA Primers)
SB  - IM
MH  - Chromosome Disorders/*diagnosis
MH  - DNA Primers
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Mosaicism
MH  - Polymerase Chain Reaction/methods
MH  - Predictive Value of Tests
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Risk
MH  - Sensitivity and Specificity
MH  - Sex Chromosome Disorders/diagnosis
MH  - Tandem Repeat Sequences
MH  - Trisomy/diagnosis
RF  - 72
EDAT- 2003/09/13 05:00
MHDA- 2003/12/16 05:00
CRDT- 2003/09/13 05:00
PHST- 2003/09/13 05:00 [pubmed]
PHST- 2003/12/16 05:00 [medline]
PHST- 2003/09/13 05:00 [entrez]
AID - 10.1530/rep.0.1260279 [doi]
PST - ppublish
SO  - Reproduction. 2003 Sep;126(3):279-97. doi: 10.1530/rep.0.1260279.