[Rapid prenatal diagnosis of chromosome aneuploidies in 60 uncultured amniotic fluid samples by fluorescence in situ hybridization].
OBJECTIVE
To evaluate the feasibility of rapid prenatal diagnosis of chromosome aneuploidies by interphase fluorescence in situ hybridization (FISH) using uncultured amniotic fluid.


METHODS
Bacterial artificial chromosome (BAC) DNA probes were prepared and validated by using cultured peripheral blood. Interphase FISH for chromosomes 13, 18, 21, X and Y was performed in 60 amniotic fluid samples for the rapid prenatal diagnosis of chromosome aneuploidies, and the results were compared with the karyotypes from conventional cytogenetic analysis.


RESULTS
Of all 60 cases, 58 were concordant with their karyotypes, and 1 case of inv(9) and another case of t(2,12) were identified by karyotyping. Two cases of trisomy 21 and 1 case of trisomy 18 were detected by FISH and confirmed with conventional cytogenetics (sensitivity=100%). There were no false-positive or false-negative results.


CONCLUSIONS
This evaluation demonstrated that FISH employing BAC DNA probes could accurately and rapidly detect aneuploidies involving the above 5 chromosomes. However, as it does not identify structural chromosome aberrations and aneuploidies involving other chromosomes, it is not a substitute for conventional chromosome analysis, and the negative FISH result should be carefully interpreted.
State Key Lab of Medical Genetics of China, Central South University, Changsha, Hunan 410078, P.R. China.
Hao
H
Wang
Haibo
H
Li
Huilin
H
Wang
Hua
H
Wang
Yan
Y
Xia
Juan
J
Wen
Zhigao
Z
Long
Heping
H
Dai
Desheng
D
Liang
Jiahui
J
Xia
Lingqian
L
Wu
D000328:Adult; D000653:Amniotic Fluid / Q000166:cytology / Q000378:metabolism*; D000782:Aneuploidy; D046508:Culture Techniques; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods*; D007621:Karyotyping; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D013997:Time Factors