PMID- 17430982
OWN - NLM
STAT- MEDLINE
DCOM- 20070803
LR  - 20070518
IS  - 1360-9947 (Print)
IS  - 1360-9947 (Linking)
VI  - 13
IP  - 6
DP  - 2007 Jun
TI  - FastFISH: technique for ultrarapid fluorescence in situ hybridization on 
      uncultured amniocytes yielding results within 2 h of amniocentesis.
PG  - 355-9
AB  - Rapid aneuploidy detection methods allow prenatal diagnosis results to be 
      released within 48 h, but not on the same day as the invasive test. We aimed to 
      develop a rapid fluorescence in situ hybridization (FISH) method (FastFISH) that 
      releases accurate results on the same day as amniocentesis. FastFISH was 
      optimized to be completed within 2 h of sample collection using CEP and LSI 
      probes for chromosomes 13, 18, 21, X, Y and DiGeorge syndrome (DGS). The 
      technique was tested on 100 consecutive amniotic fluid samples in a blinded 
      study. It was also validated as a 1-day molecular genetic test on three 
      representative fetal tissue samples: chorionic villus, amniotic fluid and fetal 
      blood. In the blinded study, FastFISH results were ready within 2 h of sample 
      collection. Of the 100 amniotic fluid samples, 49 male and 50 female fetuses were 
      identified. One fetus was 47, XXY (Klinefelter syndrome). Three fetuses had 
      trisomy 21. One fetus suspected of DGS by ultrasound was identified as normal. 
      Results of FastFISH analyses in all 100 cases were concordant with their 
      karyotypes (100% accuracy; lower 95% CI, 97.05%). In the 1-day test validation, 
      all results were released on the same day and were concordant with their 
      respective karyotypes. FastFISH allows results to be released on the same day as 
      amniocentesis. It represents the necessary development for a 1-day prenatal 
      diagnosis service.
FAU - Choolani, M
AU  - Choolani M
AD  - Diagnostic Biomarker Discovery Laboratory, Division of Maternal and Fetal 
      Medicine, Department of Obstetrics and Gynaecology, Yong Loo Lin School of 
      Medicine, National University of Singapore, 5 Lower Kent Ridge Road, 119074 
      Singapore. obgmac@nus.edu.sg
FAU - Ho, S S Y
AU  - Ho SS
FAU - Razvi, K
AU  - Razvi K
FAU - Ponnusamy, S
AU  - Ponnusamy S
FAU - Baig, S
AU  - Baig S
FAU - Fisk, N M
AU  - Fisk NM
FAU - Biswas, A
AU  - Biswas A
CN  - Rapid Molecular Testing in Prenatal Diagnosis Group
LA  - eng
PT  - Clinical Trial
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20070412
PL  - England
TA  - Mol Hum Reprod
JT  - Molecular human reproduction
JID - 9513710
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - Amniotic Fluid/*cytology
MH  - *Aneuploidy
MH  - Chromosome Disorders/*diagnosis
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping
MH  - Male
MH  - Middle Aged
MH  - Pregnancy
MH  - Sensitivity and Specificity
MH  - Time Factors
EDAT- 2007/04/14 09:00
MHDA- 2007/08/04 09:00
CRDT- 2007/04/14 09:00
PHST- 2007/04/14 09:00 [pubmed]
PHST- 2007/08/04 09:00 [medline]
PHST- 2007/04/14 09:00 [entrez]
AID - gam016 [pii]
AID - 10.1093/molehr/gam016 [doi]
PST - ppublish
SO  - Mol Hum Reprod. 2007 Jun;13(6):355-9. doi: 10.1093/molehr/gam016. Epub 2007 Apr 
      12.