Chen Penglong, Jin Chunlei, Shan Qunda, Qian Bixia, Zheng Xiaohong, Wang Xiaohong, Wang Yi
Prenatal Diagnosis Center, Lishui Maternity and Child Health Care Hospital, Lishui, Zhejiang 323000, China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2017 Aug 10;34(4):542-545. doi: 10.3760/cma.j.issn.1003-9406.2017.04.016.
To assess the value of combined BACs-on-Beads (BoBs) and chromosomal karyotyping for the diagnosis of women with high-risk pregnancy.
For 1371 women with singleton pregnancy and various indications for prenatal diagnosis, karyotyping and BoBs were simultaneously applied on their amnionic fluid samples.
In total 23 cases of trisomy 21, 11 cases of trisomy 18, 5 cases of sex chromosome aneuploidies, 6 cases of microdeletions/microduplications, 2 cases of chimeric chromosomes and 1 case of structural chromosomal abnormality were detected by the BoBs assay, among which the 6 microdeletions/microduplications were not detected by karyotyping. Karyotyping analysis has identified an extra yield of 19 chromosomal abnormalities and 34 chromosomal polymorphisms.
Combined use of BoBs and chromosomal karyotyping can improve the detection rate of fetal chromosomal abnormalities including microdeletions/microduplications, which should find a wider use in the clinics.
评估联合使用珠粒上的细菌人工染色体（BoBs）和染色体核型分析对高危妊娠女性的诊断价值。
对1371例单胎妊娠且有各种产前诊断指征的女性，同时对其羊水样本进行核型分析和BoBs检测。
通过BoBs检测共检出21三体综合征23例、18三体综合征11例、性染色体非整倍体5例、微缺失/微重复6例、嵌合染色体2例和染色体结构异常1例，其中6例微缺失/微重复未被核型分析检出。核型分析额外发现了19例染色体异常和34例染色体多态性。
联合使用BoBs和染色体核型分析可提高包括微缺失/微重复在内的胎儿染色体异常的检出率，应在临床上得到更广泛应用。
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