Retrospective Study on 2T-Risks and Lifecycle Prenatal Systems in the Second Trimester Down Syndrome Prenatal Screening

doi:10.3877/cma.j.issn.1673-5250.2014.03.009

Objective

To explore the clinical performance of 2T-Risks and Lifecycle prenatal screening system in second trimester Down syndrome (DS) prenatal screening.

Methods

From March 2011 to May 2012, a total of 11 275 cases of second trimester pregnant women who underwent prenatal screening were included into this study. Their basic information (age and gestational age) and serum markers [alpha fetoprotein(AFP), free β-human chorionic gonadotrophin(β-hCG), unconjugated Estriol(μE₃)] were collected. The screening risk values of fetus with trisomy 21 and trisomy 18 were calculated by two systems. The study protocol was approved by the Ethical Review Board of Investigation of West China Second University Hospital, Sichuan University. Informed consent was obtained from all participates.

Results

In those 11 275 pregnant women, the positive rate of the DS with Lifecycle was 7.1%(803/11 275), and that of 2T-Risks was 5.4%(605/11 275). The positive rate of the Edwards syndrome with Lifecycle was 0.08%(9/11 275), and that of 2T-Risks was 0.56%(63/11 275). Screening efficiency of DS of Lifecycle was 1.82%(11/605), and that of 2T-Risks was 2.46%(9/366). The screening efficiency of Edwards syndrome with Lifecycle was 25.0%(2/8), and that of 2T-Risks was 5.88% (2/34). According to the screening efficiency, Lifecycle's screening detection rate of DS was 70.9%, and 2T-Risks' was 65.0%. Lifecycle's screening detection rate of Edwards syndrome was 69.2%, 2T-Risks' was 78.7%.

Conclusions

For the same data, it is different of the screening risk values calculated by two systems. In total, Lifecycle is better than 2T-Risks. So choosing an appropriate screening system for improving the quality of prenatal screening for DS is very important.

Key words: Down syndrome, Edwards syndrome, Prenatal screening system, Prenatal screening

表1 11 275例孕妇的孕龄及年龄分布情况

Table 1 The distribution of gestational ages and ages among 11 275 cases

项目		n(%)
孕龄(孕周)
	15～15^＋6	2 527(22.4)
	16～16^＋6	3 849(34.1)
	17～17^＋6	2 344(20.8)
	18～18^＋6	1 252(11.1)
	19～19^＋6	899 (8.0)
	20～20^＋6	404 (3.6)
年龄(岁)
	<20	43 (0.4)
	20～25	1 679(14.9)
	25～30	5 707(50.6)
	30～35	3 846(34.1)

表1 11 275例孕妇的孕龄及年龄分布情况

Table 1 The distribution of gestational ages and ages among 11 275 cases

项目		n(%)
孕龄(孕周)
	15～15^＋6	2 527(22.4)
	16～16^＋6	3 849(34.1)
	17～17^＋6	2 344(20.8)
	18～18^＋6	1 252(11.1)
	19～19^＋6	899 (8.0)
	20～20^＋6	404 (3.6)
年龄(岁)
	<20	43 (0.4)
	20～25	1 679(14.9)
	25～30	5 707(50.6)
	30～35	3 846(34.1)

表2 17例21-三体核型胎儿的2种软件筛查结果

Table 2 Screening results of risk values of 17 cases with trisomy 21 calculated by Lifecycle or 2T-Risks

编号(No.)	年龄(岁)	筛查孕龄(孕周)	DS风险值(1/n)
编号(No.)	年龄(岁)	筛查孕龄(孕周)	Lifecycle	2T-Risks
1	33	16^＋1	1/350^a	1/360^a
2	29	16^＋2	1/250	1/230
3	29	16^＋4	1/150	1/1 200^a
4	32	15^＋5	1/310^a	1/380^a
5	24	20^＋6	1/140	1/100
6	23	18^＋5	1/130	1/100
7	34	17^＋4	1/35	1/10
8	31	15^＋4	1/580^a	1/540^a
9	32	18^＋6	1/30	1/20
10	25	15^＋4	1/85	1/20
11	33	16^＋4	1/520^a	1/320^a
12	33	15^＋2	1/15	1/20
13	30	15^＋1	1/40	1/20
14	33	17^＋6	1/35	1/10
15	34	18^＋2	1/110	1/19 700^a
16	26	16^＋6	1/1 200^a	1/1 400^a
17	24	19^＋2	1/440^a	1/800^a

表2 17例21-三体核型胎儿的2种软件筛查结果

Table 2 Screening results of risk values of 17 cases with trisomy 21 calculated by Lifecycle or 2T-Risks

编号(No.)	年龄(岁)	筛查孕龄(孕周)	DS风险值(1/n)
编号(No.)	年龄(岁)	筛查孕龄(孕周)	Lifecycle	2T-Risks
1	33	16^＋1	1/350^a	1/360^a
2	29	16^＋2	1/250	1/230
3	29	16^＋4	1/150	1/1 200^a
4	32	15^＋5	1/310^a	1/380^a
5	24	20^＋6	1/140	1/100
6	23	18^＋5	1/130	1/100
7	34	17^＋4	1/35	1/10
8	31	15^＋4	1/580^a	1/540^a
9	32	18^＋6	1/30	1/20
10	25	15^＋4	1/85	1/20
11	33	16^＋4	1/520^a	1/320^a
12	33	15^＋2	1/15	1/20
13	30	15^＋1	1/40	1/20
14	33	17^＋6	1/35	1/10
15	34	18^＋2	1/110	1/19 700^a
16	26	16^＋6	1/1 200^a	1/1 400^a
17	24	19^＋2	1/440^a	1/800^a

表3 17例21-三体核型胎儿的2种软件筛查结果四格表(n)

Table 3 The four-fold table of the results with two systems in 17 cases with trisomy 21(n)

Lifecycle	2T-Risks		合计
Lifecycle	高风险	低风险	合计
高风险	9	2	11
低风险	0	6	6
合计	9	8	17

表3 17例21-三体核型胎儿的2种软件筛查结果四格表(n)

Table 3 The four-fold table of the results with two systems in 17 cases with trisomy 21(n)

Lifecycle	2T-Risks		合计
Lifecycle	高风险	低风险	合计
高风险	9	2	11
低风险	0	6	6
合计	9	8	17

表4 3例18-三体核型胎儿2种软件筛查结果

Table 4 Screening results of risk values of 3 cases with trisomy 18 calculated by Lifecycle or 2T-Risks

编号(No.)	年龄(岁)	筛查孕龄(孕周)	18-三体综合征风险值(1/n)
编号(No.)	年龄(岁)	筛查孕龄(孕周)	Lifecycle	2T-Risks
1	29	17^＋5	1/25	1/10
2	28	16^＋4	1/4 200^a	1/10
3	34	15^＋3	1/70	1/1 200^a

表4 3例18-三体核型胎儿2种软件筛查结果

Table 4 Screening results of risk values of 3 cases with trisomy 18 calculated by Lifecycle or 2T-Risks

编号(No.)	年龄(岁)	筛查孕龄(孕周)	18-三体综合征风险值(1/n)
编号(No.)	年龄(岁)	筛查孕龄(孕周)	Lifecycle	2T-Risks
1	29	17^＋5	1/25	1/10
2	28	16^＋4	1/4 200^a	1/10
3	34	15^＋3	1/70	1/1 200^a

表5 2种软件计算唐氏综合征筛查结果四格表(n)

Table 5 The four-fold table of the screening results for Down syndrome calculated by Lifecycle or 2T-Risks (n)

Lifecycle	2T-Risks		合计
Lifecycle	高风险	低风险	合计
高风险	406	397	803
低风险	199	10 273	10 472
合计	605	10 670	11 275

表5 2种软件计算唐氏综合征筛查结果四格表(n)

Table 5 The four-fold table of the screening results for Down syndrome calculated by Lifecycle or 2T-Risks (n)

Lifecycle	2T-Risks		合计
Lifecycle	高风险	低风险	合计
高风险	406	397	803
低风险	199	10 273	10 472
合计	605	10 670	11 275

表6 2种软件计算18-三体综合征筛查结果四格表(n)

Table 6 The four-fold table of the screening results for Edwards syndrome calculated by Lifecycle or 2T-Risks(n)

Lifecycle	2T-Risks		合计
Lifecycle	高风险	低风险	合计
高风险	4	5	9
低风险	59	11 207	11 266
合计	63	11 212	11 275

表6 2种软件计算18-三体综合征筛查结果四格表(n)

Table 6 The four-fold table of the screening results for Edwards syndrome calculated by Lifecycle or 2T-Risks(n)

Lifecycle	2T-Risks		合计
Lifecycle	高风险	低风险	合计
高风险	4	5	9
低风险	59	11 207	11 266
合计	63	11 212	11 275

表7 5例唐氏综合征风险值处于灰区孕妇的Lifecycle和2T-Risks计算结果对照表

Table 7 Comparison of results between Lifecycle and 2T-Risks in 5 cases with trisomy 21 of a grey area

编号(No.)	年龄(岁)	筛查孕龄(孕周)	DS风险(1/n)
编号(No.)	年龄(岁)	筛查孕龄(孕周)	Lifecycle	2T-Risks
1	32	15^＋5	1/310	1/380
2	33	16^＋1	1/350	1/360
3	24	19^＋2	1/440	1/800
4	33	16^＋4	1/520	1/320
5	31	15^＋4	1/580	1/540

表7 5例唐氏综合征风险值处于灰区孕妇的Lifecycle和2T-Risks计算结果对照表

Table 7 Comparison of results between Lifecycle and 2T-Risks in 5 cases with trisomy 21 of a grey area

编号(No.)	年龄(岁)	筛查孕龄(孕周)	DS风险(1/n)
编号(No.)	年龄(岁)	筛查孕龄(孕周)	Lifecycle	2T-Risks
1	32	15^＋5	1/310	1/380
2	33	16^＋1	1/350	1/360
3	24	19^＋2	1/440	1/800
4	33	16^＋4	1/520	1/320
5	31	15^＋4	1/580	1/540

1	陈瑶．唐氏综合征产前筛查及诊断的研究进展[J]．国际检验医学，2013，34(7)：835-837.
2	勾宗蓉．唐氏综合征产前筛查在优生中的作用[J]．国际检验医学杂志，2011，32(3)：361-363.
3	吕时铭．选择适合我国现状的唐氏综合征产前筛查和诊断模式[J]．诊断学理论与实践，2010，9(5)：413-417.
4	俞冬熠，傅平，张战红，等．唐氏综合征孕中期多指标联合筛查方案适用性评估[J]．中华医学遗传学杂志，2011，28(3)：332-335.
5	王爱婷，于维新，郑国华，等．卫生部门与计划生育部门联合开展唐氏综合征产前筛查和诊断工作研究[J/CD]．中华妇幼临床医学杂志：电子版，2010，6(5)：332-334.
6	潘玲．唐氏综合征产前筛查方案的进展[J/CD]．中国产前诊断杂志：电子版，2009，1(1)：35-42.
7	韩鹏，陈英耀，唐智柳，等．国内唐氏综合征产前筛查文献系统性综述[J]．中国妇幼保健，2008，23(34)：4939-4942.
8	王治国，李小鹏，武平源，等．2003年全国产前筛查实验室质量评价[J]．中国预防医学杂志，2004，5(6)：481-483.
9	王丽娜，井新辉，李京华，等．唐氏综合征实验室筛查的国内外现状及问题[J]．现代检验医学杂志，2010，25(6)：1-3.
10	齐漫龙，阮强，费翔，等．23 921例唐氏综合征产前血清学筛查结果分析[J]．中国妇幼保健，2010，25(36)：93-95.
11	龚智仁，杨琦，尹红，等．两种仪器产前筛查hAFP、总β-hCG结果的可比性研究[J]．检验医学与临床，2011，8(5)：539-540.
12	Wald NJ, Kennard A, Hackshaw A, et al. Antenatal screening for Down syndrome[J]. J Med Screen, 1997, 4(4):181-246.
13	许碧云，胡娅莉，张春延，等．江苏地区孕中期唐氏综合征筛查母血清标志物中位倍数标化方法的探讨[J]．中华医学遗传学杂志，2008，25(1)：32-35.
14	王蕾，白明晨，刘波，等．2种产前筛查软件在唐氏综合征风险评估结果中的运用分析[J]．现代中西医结合杂志，2012，21(19)：2101-2102.
15	刘珊玲，王和．唐氏综合征产前筛查实验室质量控制[J]．中华检验医学杂志，2011，34(7)：665-668.

[1]	Ling Wei, Hui Li, Yi Chen. Current research status on colonization or infection and mother-to-child transmission of extended-spectrum β-lactamase-producing Enterobacteriaceae in pregnant and post-partum women[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2023, 19(05): 517-521.
[2]	Yaqin Lei, Yunli Lai, Shang Yi, Fuben Xu, Yanqing Tang, Xiaoshan Huang, Jian Yi, Xiaoxia Qiu. Analysis of non-invasive prenatal screening in 50 975 pregnant women in Guangxi region[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2021, 17(04): 410-419.
[3]	Yanchun Zhang, Kaibo Liu, Wen Zhang, Hongyan Xu. Application of second trimester serum screening combined with non-invasive prenatal testing in prenatal screening and diagnosis of Down syndrome[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2020, 16(06): 709-713.
[4]	Hong Wang, Chun Duan, Hui Yuan, Xiaoxia Wu, Jiansheng Xie, Guanglin Zhao. Analysis of different risk values of Down syndrome or 18 trisomy syndrome in the first trimester screening and fetal chromosomal abnormalities and pregnancy outcomes of pregnant women[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2019, 15(06): 646-654.
[5]	Chunhua Meng, Chunhui Lai, Rong Li. Clinical application value of one-stop clinic for assessment of risk for Down syndrome during first trimester[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2019, 15(05): 590-595.
[6]	Min Pan, Qian Sun, Ruxiang Chen, Cuixing Yi, Jin Han, Dongzhi Li, Can Liao. Pregnancy outcomes in women with very high risk of Down syndrome screening[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2019, 15(02): 157-163.
[7]	Hang Su, Zhiying Liu, Yi Lai, Li Qin, Hongqian Liu, Xuemei Zhang, Qian Zhu, Ting Hu, Xun Zhang, Xiaowen Zhao, Shanling Liu, He Wang. Prenatal diagnosis results of advanced maternal age women and limitations of preferred non-invasive prenatal screening to them: a large sample analysis[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2018, 14(06): 718-723.
[8]	Wen He, Xiaodong Wang, Haiyan Yu. Research status of pregnancy combined with Thalassemia[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2017, 13(01): 14-19.
[9]	Luping Ou-Yang, Tiansheng Liu, Dongmei Fei, Hongqian Huang, Shaoke Chen, Chenguang Zheng. Clinical research of prenatal diagnosis of Down syndrome during the second trimester of pregnancy[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2016, 12(04): 401-405.
[10]	Chunyan Liu, Bin He, Daiwen Han, Zhiying Liu, Yi Lai, Li Qin, Lixing Yuan, Shanling Liu, He Wang. Value of second trimester serological screening of Down syndrome in pregnant women with advanced age[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2016, 12(02): 159-163.
[11]	Xiaojuan Lin, Qingmei Sun, Xiaochun He, Ju Wu, Tingting Ge, Weisi Dai. Clinical analysis of fetal chromosomes karyotype abnormalities[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2016, 12(02): 173-178.
[12]	Chunyan Liu, Bin He, Daiwen Han, Lixing Yuan, Shanling Liu, He Wang. Influence of the estimation of gestational age by using different ultrasound examination during second pregnancy trimester for Down syndrome screening[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2015, 11(4): 471-474.
[13]	Mingyan Ni. Effects of early screening and treatment of gestational diabetes mellitus on pregnancy outcome[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2015, 11(02): 188-191.
[14]	Jing Dai. Research Progress of Prenatal Diagnosis of Fetal Short Femur by Ultrasound[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2014, 10(03): 379-382.
[15]	Hui YANG, Mei XIAO, Jie-ping SONG, Wei-peng WANG. Screening Clinical Practice Analysis of Down's Syndrome in the Middle Period Pregnancy Among 3275 Cases[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2012, 08(04): 450-453.

Viewed

Full text

Abstract

Please choose a citation manager

Content to export