PMID- 10701842
OWN - NLM
STAT- MEDLINE
DCOM- 20000327
LR  - 20041118
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 20
IP  - 1
DP  - 2000 Jan
TI  - Defining the efficiency of fluorescence in situ hybridization on uncultured 
      amniocytes on a retrospective cohort of 27407 prenatal diagnoses.
PG  - 1-6
AB  - Rapid prenatal detection of selected numerical chromosomal abnormalities by using 
      fluorescence in situ hybridization (FISH) on uncultured amniotic fluid samples 
      was described six years ago. It allows a very rapid identification of selected 
      aneuploidies. We have indexed the results of our 27407 fetal karyotypes obtained 
      by conventional cytogenetics during the last five years, noting the type of 
      chromosomal abnormality and the reasons for prenatal diagnosis. We have also 
      indexed the chromosomal abnormality regarding the prognosis of the chromosomal 
      aberations to evaluate the real impact of a non-diagnosis. Within the population 
      of bad prognosis abnormalities, the percentage of abnormalities with bad 
      prognosis detectable by FISH is 94.6% for advanced maternal age, 85.3% for 
      ultrasonographic anomalies and 86.4% for positive maternal screening. The use of 
      FISH alone on our cohort is not a suitable method to diagnose the chromosomal 
      abnormalities.
FAU - Lewin, P
AU  - Lewin P
AD  - Department of Human Genetics, Pasteur Cerha Laboratory, Cergy Pontoise, France. 
      plewin@pasteur-cerba.com
FAU - Kleinfinger, P
AU  - Kleinfinger P
FAU - Bazin, A
AU  - Bazin A
FAU - Mossafa, H
AU  - Mossafa H
FAU - Szpiro-Tapia, S
AU  - Szpiro-Tapia S
LA  - eng
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Amniotic Fluid/*cytology
MH  - *Chromosome Aberrations
MH  - Cohort Studies
MH  - Female
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Maternal Age
MH  - Pregnancy
MH  - Pregnancy, High-Risk
MH  - Prenatal Diagnosis/*methods
MH  - Prognosis
MH  - Retrospective Studies
MH  - Sensitivity and Specificity
MH  - Ultrasonography, Prenatal
EDAT- 2000/03/04 09:00
MHDA- 2000/04/01 09:00
CRDT- 2000/03/04 09:00
PHST- 2000/03/04 09:00 [pubmed]
PHST- 2000/04/01 09:00 [medline]
PHST- 2000/03/04 09:00 [entrez]
AID - 10.1002/(SICI)1097-0223(200001)20:1<1::AID-PD739>3.0.CO;2-6 [pii]
PST - ppublish
SO  - Prenat Diagn. 2000 Jan;20(1):1-6.