Detection of newborn aneuploidy by interphase fluorescence in situ hybridization.
OBJECTIVE
To test fluorescence in situ hybridization (FISH) probes for rapid detection of aneuploidy of chromosomes 13, 18, 21, X, and Y from newborn uncultured blood samples.


METHODS
Directly labeled, multicolored, commercially available FISH probes for the five aforementioned chromosomes were validated, and their hybridization efficiencies were established. In a blinded study, eight trisomic samples were tested by this FISH method.


RESULTS
The hybridization efficiency based on metaphase evaluation of each of the five probes was 100%, and no cross-hybridization occurred. The mean interphase hybridization efficiencies of the probes for chromosomes 13, 18, 21, X, and Y were 97.4 %, 89.4 %, 96.1%, 94.4 %, and 100 %, respectively. The eight abnormal samples were identified as trisomy 21 (in six), trisomy 13 (in one), and trisomy 18 (in one).


CONCLUSIONS
The screening of aneuploidy of newborns for chromosomes 13, 18, 21, X, or Y by interphase FISH is rapid, reliable, and cost-effective. The test is especially suitable for medically urgent cases as a screen, followed by a standard chromosome analysis.
Jalal
S M
SM
Division of Laboratory Genetics, Mayo Clinic Rochester, Minnesota 55905, USA.
Law
M E
ME
D000782:Aneuploidy; D002882:Chromosomes, Human, Pair 13 / Q000235:genetics; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D015342:DNA Probes; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D007399:Interphase; D007621:Karyotyping; D014960:X Chromosome / Q000235:genetics; D014998:Y Chromosome / Q000235:genetics
D015342:DNA Probes