Detection of chromosome aneuploidies in spontaneous abortion villus samples by quantitative fluorescence PCR.
- VernacularTitle:应用定量荧光PCR检测自然流产绒毛染色体非整倍体
- Author:
Zhenzhen WU
1
,
2
;
Ning LIU
;
Yongjiang ZHAO
;
Zhenhua ZHAO
;
Xiangdong KONG
Author Information
- Publication Type:Journal Article
- MeSH: Abortion, Spontaneous; diagnosis; genetics; Adult; Aneuploidy; Chorionic Villi; chemistry; Female; Fluorescence; Humans; Pregnancy; Prenatal Diagnosis; Real-Time Polymerase Chain Reaction; methods
- From: Chinese Journal of Medical Genetics 2016;33(2):227-230
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the value of quantitative fluorescence polymerase chain reaction (QF-PCR) for the detection of chromosomal aneuploidies in chorionic villus samples from early abortion.
METHODSOne hundred seventy seven specimens were collected. Genomic DNA was extracted, and aneuploidies of 8 chromosomes (13, 15, 16, 18, 21, 22, X and Y) were detected by QF-PCR analysis.
RESULTSThe QF-PCR was successful in 176 (99.4%) of the cases. All detection was completed in 48 hours. Sixty three(35.8%) cases have shown abnormal signals, which included 3 cases of trisomy 13, 3 cases of trisomy 15, 14 cases of trisomy 16, 2 cases of trisomy 18, 7 cases of trisomy 22, 3 cases of trisomy 21, 13 cases of 45,X, 1 case of 47,XXX, 2 cases of 47,XXY, 2 cases of haploidy, 11 cases of triploidy, 1 case of trisomy 16 and trisomy 22, 1 case of trisomy 21 and trisomy 22. Trisomy 16 was the most common chromosome aneuploidy (22.22%), which was followed by 45,X (20.63%), triploidy (17.46%) and trisomy 22 (11.11%).
CONCLUSIONQF-PCR is a quick and easy method for detecting chromosomal aneuploidies in chorionic villi tissue. The results can provide important information for genetic counseling for spontaneous abortions.
