PMID- 9472995
OWN - NLM
STAT- MEDLINE
DCOM- 19980225
LR  - 20131213
IS  - 0025-6196 (Print)
IS  - 0025-6196 (Linking)
VI  - 73
IP  - 2
DP  - 1998 Feb
TI  - Prenatal detection of aneuploidy by directly labeled multicolored probes and 
      interphase fluorescence in situ hybridization.
PG  - 132-7
AB  - OBJECTIVE: To detect aneuploidy of chromosomes 13, 18, 21, X, and Y with use of 
      new, directly labeled, multicolored, commercially available DNA probes from 
      interphase cells of amniotic fluid (AF). MATERIAL AND METHODS: The hybridization 
      sites of the five probes were validated by metaphase analysis. The fluorescence 
      in situ hybridization (FISH) normal range was determined from a series of normal 
      AF specimens and tested on a series of normal and abnormal specimens. RESULTS: 
      The hybridization efficiencies of the five probes were 100%. The mean AF 
      interphase disomic signal patterns for chromosomes 13, 18, 21, XX, and XY were 
      95.9%, 89.1%, 94.3%, 94.7%, and 98.7%, respectively. Of a total of 508 cases 
      analyzed, 211 were aneuploid. All cases were correctly identified and no false 
      results occurred (in comparison with karyotypic analysis), although maternal cell 
      contamination was relatively common. CONCLUSION: Clinical screening for 
      aneuploidy of chromosomes 13, 18, 21, X, and Y from interphase AF cells is 
      possible with use of these probes and FISH. Cases of maternal cell contamination 
      and mosaicism necessitate cautious interpretation. The FISH procedure is 
      recommended for screening of common aneuploidies, followed by a complete 
      chromosome analysis to detect anomalies.
FAU - Jalal, S M
AU  - Jalal SM
AD  - Division of Laboratory Genetics, Mayo Clinic Rochester, Minnesota 55905, USA.
FAU - Law, M E
AU  - Law ME
FAU - Carlson, R O
AU  - Carlson RO
FAU - Dewald, G W
AU  - Dewald GW
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Mayo Clin Proc
JT  - Mayo Clinic proceedings
JID - 0405543
RN  - 0 (DNA Probes)
SB  - IM
MH  - Amniotic Fluid/cytology
MH  - *Aneuploidy
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 18
MH  - Chromosomes, Human, Pair 21
MH  - *DNA Probes
MH  - Fetal Diseases/*diagnosis/genetics
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - *Interphase
MH  - Karyotyping
MH  - Prenatal Diagnosis/*methods
MH  - Sex Chromosomes
EDAT- 1998/02/24 00:00
MHDA- 1998/02/24 00:01
CRDT- 1998/02/24 00:00
PHST- 1998/02/24 00:00 [pubmed]
PHST- 1998/02/24 00:01 [medline]
PHST- 1998/02/24 00:00 [entrez]
AID - S0025-6196(11)63644-6 [pii]
AID - 10.1016/S0025-6196(11)63644-6 [doi]
PST - ppublish
SO  - Mayo Clin Proc. 1998 Feb;73(2):132-7. doi: 10.1016/S0025-6196(11)63644-6.