[Application of multiple quantitative fluorescence polymerase chain reaction approach for rapid prenatal diagnosis of common chromosome aneuploidies].
OBJECTIVE
To assess the value of multiple quantitative fluorescence polymerase chain reaction (QF-PCR) approach for rapid prenatal diagnosis of common chromosomal aneuploidies.


METHODS
A total of 4760 amniotic samples from 4649 pregnant women were analyzed with QF-PCR for 21, 18, 13, X and Y aneuploidies, and the results were compared with those of karyotype analysis.


RESULTS
The overall success rate for QF-PCR was 98.4%. All the 48 cases of 21, 18, 13, X and Y aneuploidies (including 2 case of 46, XY, rob(13:21), +21; 4 trisomy 21 in 4 twins) were detected by QF-PCR, with the overall sensibility and specificity both reaching 100%. One mosaicism of trisomy 21 and 4 mosaicisms of sex chromosome (1 misdiagnosed by karyotype analysis) were also detected by QF-PCR. Four mosaicisms of sex chromosome were verified as missed diagnosis. All the 64 cases failed by karyotype analysis were successfully analyzed by the QF-PCR approach. The total consistency rate for QF-PCR and karyotyping has reached 98.3%.


CONCLUSIONS
QF-PCR approach can diagnose 21, 18, 13 as well as X and Y aneuploidies within 48 hours, in addition with a portion of mosaicisms. It is an efficient and reliable method for rapid prenatal diagnosis, and therefore provide an important supplement for karyotype analysis.
Department of Obstetrics and Gynecology, West China Institute of Women and Children's Health, West China Second Hospital, Sichuan University, Chengdu, Sichuan 610041, P. R. China. wanghe_cd@126.com; sunny630@126.com.
Ting
T
Hu
Hongqian
H
Liu
Hongmei
H
Zhu
Jing
J
Wang
Haixia
H
Zhang
Qian
Q
Zhu
Yi
Y
Lai
Li
L
Qin
He
H
Wang
Shanling
S
Liu
D000328:Adult; D000782:Aneuploidy; D005260:Female; D005453:Fluorescence; D006801:Humans; D059785:Karyotype; D018895:Microsatellite Repeats; D016133:Polymerase Chain Reaction / Q000379:methods*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*