PMID- 10646809
OWN - NLM
STAT- MEDLINE
DCOM- 20000204
LR  - 20061115
IS  - 0001-6349 (Print)
IS  - 0001-6349 (Linking)
VI  - 79
IP  - 1
DP  - 2000 Jan
TI  - Rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence in 
      situ hybridization: a one-year clinical experience with high-risk and urgent 
      fetal and postnatal samples.
PG  - 8-14
AB  - OBJECTIVES: To evaluate the clinical utility of rapid prenatal and postnatal 
      detection of common chromosome aneuploidies by interphase fluorescence in situ 
      hybridization (FISH) analysis with DNA probes. DESIGN: Four hundred and 
      seventy-seven high-risk and/or urgent amniotic fluid, chorionic villus and fetal 
      and postnatal blood samples were prospectively examined by FISH with probes 
      specific for chromosomes 13, 18, 21, X, and Y and results were reported within 48 
      hours. All FISH results were followed by conventional chromosome analysis, if 
      possible. SETTING: Cytogenetic service laboratory at the tertiary referral 
      center, Rigshospitalet in Copenhagen. MAIN OUTCOME MEASURES: The fraction of 
      clinically significant chromosome aneuploidies that was detected by FISH 
      analysis, and the fraction of terminations that was based on FISH and ultrasound 
      results rather than on conventional cytogenetic results. RESULTS: The FISH assay 
      detected 76% of the clinically significant chromosome abnormalities as determined 
      by subsequent cytogenetic analysis. Seventy-two percent of the terminations of 
      the chromosomally abnormal pregnancies were based on FISH and ultrasound results 
      rather than on conventional cytogenetic results. CONCLUSION: FISH analysis is a 
      clinically useful adjunctive tool to conventional pre- and postnatal cytogenetic 
      analysis. The assay rapidly detects the majority of clinically significant 
      chromosome abnormalities, thus facilitating difficult pre- and postnatal clinical 
      decisions.
FAU - Bryndorf, T
AU  - Bryndorf T
AD  - Department of Clinical Genetics, The Juliane Marie Center, Rigshospitalet, 
      University of Copenhagen, Denmark.
FAU - Lundsteen, C
AU  - Lundsteen C
FAU - Lamb, A
AU  - Lamb A
FAU - Christensen, B
AU  - Christensen B
FAU - Philip, J
AU  - Philip J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Acta Obstet Gynecol Scand
JT  - Acta obstetricia et gynecologica Scandinavica
JID - 0370343
RN  - 0 (DNA Probes)
SB  - IM
MH  - Adult
MH  - Amniotic Fluid/cytology
MH  - *Aneuploidy
MH  - Chorionic Villi Sampling
MH  - Chromosome Aberrations/*diagnosis
MH  - Chromosome Disorders
MH  - DNA Probes
MH  - Female
MH  - Fetal Blood/cytology
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Karyotyping
MH  - Male
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Prospective Studies
MH  - Risk Factors
MH  - Sensitivity and Specificity
EDAT- 2000/01/26 00:00
MHDA- 2000/01/26 00:01
CRDT- 2000/01/26 00:00
PHST- 2000/01/26 00:00 [pubmed]
PHST- 2000/01/26 00:01 [medline]
PHST- 2000/01/26 00:00 [entrez]
PST - ppublish
SO  - Acta Obstet Gynecol Scand. 2000 Jan;79(1):8-14.