Application of multiple quantitative fluorescence polymerase chain reaction approach for rapid prenatal diagnosis of common chromosome aneuploidies.
- VernacularTitle:多重定量荧光PCR在胎儿常见染色体非整倍体快速诊断中的应用
- Author:
Ting HU
1
,
2
,
3
;
Hongqian LIU
;
Hongmei ZHU
;
Jing WANG
;
Haixia ZHANG
;
Qian ZHU
;
Yi LAI
;
Li QIN
;
He WANG
;
Shanling LIU
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Aneuploidy; Female; Fluorescence; Humans; Karyotype; Microsatellite Repeats; Polymerase Chain Reaction; methods; Pregnancy; Prenatal Diagnosis; methods
- From: Chinese Journal of Medical Genetics 2014;31(2):214-218
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the value of multiple quantitative fluorescence polymerase chain reaction (QF-PCR) approach for rapid prenatal diagnosis of common chromosomal aneuploidies.
METHODSA 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.
RESULTSThe 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%.
CONCLUSIONQF-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.
