Clinical applications of noninvasive prenatal testing

doi:10.3877/cma.j.issn.2095-655X.2014.04.011

Abstract

Abstract:

Objective

To explore the noninavasive prenatal genetic testing technology in the role of screening for chromosome aneuploidy.

Methods

Massively parallel sequencing was applied to analyze fetal chromosome sequence copy numbers in seventy-four pregnant women with clinical indications for prenatal diagnosis.According to the different clinical indications, four groups were divided.The rate of high risk of aneuploidy in each group was counted.High risk of aneuploidy was showed in eleven cases; fetal karyotyping was also carried out on amniocentesis samples.

Results

The rate of high risk of fetal chromosome aneuploidy was 10.5%(4/38) in advanced maternal age group, 17.4%(4/23) in the increasing-risk maternal triple-marker screening test group, 30.0% (3/10) in the abnormal ultrasound finding group, 0.0% (0/1) for family history of chromosomal abnormality.The total rate of high risk of aneuploidy in all samples was 14.9% (11/74). In eleven high risk cases of noninvasive prenatal testing, the results of noninvasive prenatal testing of nine cases were accordant with fetal karyotyping, but two cases were false positive.

Conclusion

Noninvasive prenatal testing is an effective method for screening fetal aneuploidy.It has a broad clinical application prospect.

Key words: Noninvasive prenatal testing, Fetal aneuploidy, Prenatal diagnosis

Xiaoxi Zhao, Xiaoyue Gu. Clinical applications of noninvasive prenatal testing[J]. Chinese Journal of Diagnostics(Electronic Edition), 2014, 02(04): 288-290.

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URL: https://zhzdxdzzz.cma-cmc.com.cn/EN/10.3877/cma.j.issn.2095-655X.2014.04.011

https://zhzdxdzzz.cma-cmc.com.cn/EN/Y2014/V02/I04/288

Figures/Tables 2

References 7

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组别	例数	高危患者	异常核型
高龄妊娠组	38	4(10.5)	4(10.5)
产筛高危组	23	4(17.4)	2(8.7)
B超异常组	10	3(30.0)	3(30.0)
生育过21-三体组	3	0	0
合计	74	11(14.9)	9(12.2)

组别	例数	高危患者	异常核型
高龄妊娠组	38	4(10.5)	4(10.5)
产筛高危组	23	4(17.4)	2(8.7)
B超异常组	10	3(30.0)	3(30.0)
生育过21-三体组	3	0	0
合计	74	11(14.9)	9(12.2)

临床产前诊断指征	无创检测结果	染色体核型结果
母亲年龄42岁	18-三体	47，XX，＋18
母亲年龄45岁	XXX	47，XXX
母亲年龄40岁	21-三体	47，XY，＋21
母亲年龄37岁	21-三体	47，XY，＋21
血清筛查21-三体高危	XXY	47，XXY
血清筛查21-三体高危	21-三体	47，XY，＋21
血清筛查21-三体高危	21-三体	46，XY
血清筛查21-三体高危	XXXX	46，XX
NT4.2mm	X	45，X
胎儿脉络膜囊肿	18-三体	47，XY，＋18
胎儿多发畸形	13-三体	47，XY，＋13

临床产前诊断指征	无创检测结果	染色体核型结果
母亲年龄42岁	18-三体	47，XX，＋18
母亲年龄45岁	XXX	47，XXX
母亲年龄40岁	21-三体	47，XY，＋21
母亲年龄37岁	21-三体	47，XY，＋21
血清筛查21-三体高危	XXY	47，XXY
血清筛查21-三体高危	21-三体	47，XY，＋21
血清筛查21-三体高危	21-三体	46，XY
血清筛查21-三体高危	XXXX	46，XX
NT4.2mm	X	45，X
胎儿脉络膜囊肿	18-三体	47，XY，＋18
胎儿多发畸形	13-三体	47，XY，＋13

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