PMID- 8488836
OWN - NLM
STAT- MEDLINE
DCOM- 19930607
LR  - 20200824
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 52
IP  - 5
DP  - 1993 May
TI  - Rapid prenatal diagnosis of chromosomal aneuploidies by fluorescence in situ 
      hybridization: clinical experience with 4,500 specimens.
PG  - 854-65
AB  - Detection of chromosome aneuploidies in uncultured amniocytes is possible using 
      fluorescence in situ hybridization (FISH). We herein describe the results of the 
      first clinical program which utilized FISH for the rapid detection of chromosome 
      aneuploidies in uncultured amniocytes. FISH was performed on physician request, 
      as an adjunct to cytogenetics in 4,500 patients. Region-specific DNA probes to 
      chromosomes 13, 18, 21, X, and Y were used to determine ploidy by analysis of 
      signal number in hybridized nuclei. A sample was considered to be euploid when 
      all autosomal probes generated two hybridization signals and when a normal sex 
      chromosome pattern was observed in greater than or equal to 80% of hybridized 
      nuclei. A sample was considered to be aneuploid when greater than or equal to 70% 
      of hybridized nuclei displayed the same abnormal hybridization pattern for a 
      specific probe. Of the attempted analyses, 90.2% met these criteria and were 
      reported as informative to referring physicians within 2 d of receipt. Based on 
      these reporting parameters, the overall detection rate for aneuploidies was 73.3% 
      (107/146), with an accuracy of informative results for aneuploidies of 93.9% 
      (107/114). Compared to cytogenetics, the accuracy of all informative FISH 
      results, euploid and aneuploid, was 99.8%, and the specificity was 99.9%. In 
      those pregnancies where fetal abnormalities had been observed by ultrasound, 
      referring physicians requested FISH plus cytogenetics at a significantly higher 
      rate than they requested cytogenetics alone. The current prenatal FISH protocol 
      is not designed to detect all chromosome abnormalities and should only be 
      utilized as an adjunctive test to cytogenetics. This experience demonstrates that 
      FISH can provide a rapid and accurate clinical method for prenatal identification 
      of chromosome aneuploidies.
FAU - Ward, B E
AU  - Ward BE
AD  - Integrated Genetics, Framingham, MA 01701.
FAU - Gersen, S L
AU  - Gersen SL
FAU - Carelli, M P
AU  - Carelli MP
FAU - McGuire, N M
AU  - McGuire NM
FAU - Dackowski, W R
AU  - Dackowski WR
FAU - Weinstein, M
AU  - Weinstein M
FAU - Sandlin, C
AU  - Sandlin C
FAU - Warren, R
AU  - Warren R
FAU - Klinger, K W
AU  - Klinger KW
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
SB  - IM
MH  - Adult
MH  - *Aneuploidy
MH  - Chromosome Aberrations
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 18
MH  - Chromosomes, Human, Pair 21
MH  - Evaluation Studies as Topic
MH  - False Negative Reactions
MH  - False Positive Reactions
MH  - Female
MH  - Fetal Diseases/*diagnosis
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Maternal Age
MH  - Predictive Value of Tests
MH  - Pregnancy
MH  - Pregnancy, High-Risk
MH  - Prenatal Diagnosis/*methods
MH  - Reproducibility of Results
MH  - X Chromosome
MH  - Y Chromosome
PMC - PMC1682052
EDAT- 1993/05/01 00:00
MHDA- 1993/05/01 00:01
PMCR- 1993/11/01
CRDT- 1993/05/01 00:00
PHST- 1993/05/01 00:00 [pubmed]
PHST- 1993/05/01 00:01 [medline]
PHST- 1993/05/01 00:00 [entrez]
PHST- 1993/11/01 00:00 [pmc-release]
PST - ppublish
SO  - Am J Hum Genet. 1993 May;52(5):854-65.