PMID- 7617567
OWN - NLM
STAT- MEDLINE
DCOM- 19950823
LR  - 20190904
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 14
IP  - 13
DP  - 1994 Dec
TI  - Prenatal aneuploidy detection in interphase cells by fluorescence in situ 
      hybridization (FISH).
PG  - 1203-15
AB  - FISH is a quick, inexpensive, accurate, sensitive and relatively specific method 
      for aneuploidy detection in samples of uncultured chorionic villus cells and 
      amniotic fluid cells. FISH allows detection of the autosomal trisomies 13, 18 and 
      21 and X and Y abnormalities and any other chromosome abnormality for which a 
      specific probe is available. The detection rate of these abnormalities is high in 
      informative samples which have a concordance of > 99.5% with cytogenetic results. 
      A relatively high number of abnormal cases are found in uninformative samples. 
      However, such samples should be regarded as samples to be investigated further. 
      Clinical experience with the use of FISH for prenatal diagnosis is now beyond 
      10,000 cases; a number of clinical protocols and smaller trials have also been 
      carried out, resulting in 90% of attempted analyses giving informative results 
      with a high detection rate and extraordinarily low false-positive and 
      false-negative rates. Unsolved problems remain, such as occasional technical 
      failures, admixtures of maternal blood and up to 20% uninformative scoring 
      results, especially for abnormal specimens. FISH is at present used as an adjunct 
      to classical cytogenetic analysis. However, this should not be interpreted as 
      meaning that FISH could not be used as a methodology in its own right. If FISH 
      were to be considered a diagnostic test then this might be the case, due to the 
      risk of false-negative and false-positive results and the fact that FISH does not 
      allow a diagnosis of certain structural abnormalities. If, on the other hand, 
      FISH is considered a screening test, which means that in all abnormal (or 
      indeterminate) cases, classical cytogenetic analysis would follow the abnormal 
      screening test, the accuracy which is potentially higher than for other screening 
      methods, for example in cases of trisomy 21, justifies FISH as a prenatal 
      screening test in its own right.
FAU - Philip, J
AU  - Philip J
AD  - Department of Obstetrics and Gynaecology, Rigshospitalet, University of 
      Copenhagen, Denmark.
FAU - Bryndorf, T
AU  - Bryndorf T
FAU - Christensen, B
AU  - Christensen B
LA  - eng
PT  - Journal Article
PT  - Review
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Amniotic Fluid/cytology
MH  - *Aneuploidy
MH  - Chorionic Villi/ultrastructure
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence/methods
MH  - Interphase
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Sensitivity and Specificity
RF  - 55
EDAT- 1994/12/01 00:00
MHDA- 1994/12/01 00:01
CRDT- 1994/12/01 00:00
PHST- 1994/12/01 00:00 [pubmed]
PHST- 1994/12/01 00:01 [medline]
PHST- 1994/12/01 00:00 [entrez]
AID - 10.1002/pd.1970141306 [doi]
PST - ppublish
SO  - Prenat Diagn. 1994 Dec;14(13):1203-15. doi: 10.1002/pd.1970141306.