Role of secondary results from non-invasive prenatal testing using cell-free DNA for fetal Klinefelter syndrome

doi:10.3969/j.issn.1673-8640.2021.08.001

Abstract

Abstract:

Objective To investigate the accuracy of secondary results from non-invasive prenatal testing（NIPT） using cell-free DNA for fetal Klinefelter syndrome（KS）,and to analyze parents' decisions in cases with high risk of KS,pregnancy outcomes and factors for parental decision-making. Methods Totally,50 760 singleton pregnant women accepted NIPT using cell-free DNA were enrolled. Pregnancy outcomes and health for the newborns at 3 months of cases with high risk of KS were followed up by telephone. NIPT indications,the results of invasive prenatal diagnosis,pregnancy and neonatal outcomes,factors for parental decisions on invasive prenatal diagnosis and KS acceptance（continue the pregnancy ） were analyzed. Results NIPT detected 0.09%（44/50 760） of high risk KS fetuses. A total of 33 of 44 cases（75.00%） received invasive prenatal diagnosis,and 29 of 33 KS fetuses were determined,giving a positive predictive value of 88.00%（29/33）. Pregnant women at 12⁺⁰-22⁺⁶ gestational weeks were more likely to accept invasive prenatal diagnosis than those at ≥23 gestational weeks（84.00% and 28.57%,P<0.05）. Among the 29 confirmed KS cases,26（90.00%） cases were terminated,and 3（10.00%） cases chose to continue their pregnancies,while all of the 11 cases who refused invasive prenatal diagnosis chose to continue their pregnancies. In view of acceptance of KS fetuses（continue the pregnancy）,there were more women at ≥23 gestational weeks than those at 12 ⁺⁰-22⁺⁶ gestational weeks（71.43% and 27.00%,P<0.05）,more the first pregnancy than the second and the third pregnancy or more times（53.33%,12.50% and 44.44%,P<0.05）,more primiparae than multiparae（52.00% and 15.79%,P<0.05）,more with college degree or below than with university degree or above（57.14% and 23.00%,P<0.05）,and more without fetal karyotype than with fetal KS karyotype（100.00% and 10.34%,P<0.05）. Totally,11 high-risk KS and 3 with fetal KS karyotype cases who continued the pregnancy gave birth to alive babies,but none of the fetuses received postnatal karyotyping. Conclusions The accuracy of NIPT in screening KS is relatively high,so it might be considered as a preferred prenatal screening method for KS and is included into prenatal management.

Key words: Non-invasive prenatal testing, Klinefelter syndrome, Prenatal diagnosis, Positive predictive value

CLC Number:

R446.7

CHEN Liyuan, XU Yong, WANG Hui, XU Xiaoxin, XIE Jiansheng. Role of secondary results from non-invasive prenatal testing using cell-free DNA for fetal Klinefelter syndrome[J]. Laboratory Medicine, 2021, 36(8): 785-789.

Figures/Tables 4

References 12

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是否接受染色体检测	例数	唐氏综合征血清学筛查		胎儿颈部透明层≥3 mm	超声软指标异常	高龄（≥35岁）	低风险孕妇自行要求检查
是否接受染色体检测	例数	高风险	临界风险	胎儿颈部透明层≥3 mm	超声软指标异常	高龄（≥35岁）	低风险孕妇自行要求检查
接受	33	1	1	2	1	13	15
拒绝	11	0	1	2	1	6	1
合计	44	1	2	4	2	19	16

是否接受染色体检测	例数	唐氏综合征血清学筛查		胎儿颈部透明层≥3 mm	超声软指标异常	高龄（≥35岁）	低风险孕妇自行要求检查
是否接受染色体检测	例数	高风险	临界风险	胎儿颈部透明层≥3 mm	超声软指标异常	高龄（≥35岁）	低风险孕妇自行要求检查
接受	33	1	1	2	1	13	15
拒绝	11	0	1	2	1	6	1
合计	44	1	2	4	2	19	16

是否接受介入产性前诊断	例数	丈夫年龄		孕妇年龄		孕周		孕次			产次		夫妻最高学历
是否接受介入产性前诊断	例数	<35岁	≥35岁	<35岁	≥35岁	12⁺⁰~22⁺⁶周	≥23⁺⁰周	1次	2次	≥3次	0次	≥1次	专科及以下	本科及以上
接受	33	17	16	20	13	31	2	11	16	6	16	17	10	23
拒绝	11	7	4	5	6	6	5	6	1	4	8	3	7	4
χ²值		0.489		0.772		9.570		5.801			1.956		3.866
P值		0.728		0.380		0.007		0.060			0.294		0.075

是否接受介入产性前诊断	例数	丈夫年龄		孕妇年龄		孕周		孕次			产次		夫妻最高学历
是否接受介入产性前诊断	例数	<35岁	≥35岁	<35岁	≥35岁	12⁺⁰~22⁺⁶周	≥23⁺⁰周	1次	2次	≥3次	0次	≥1次	专科及以下	本科及以上
接受	33	17	16	20	13	31	2	11	16	6	16	17	10	23
拒绝	11	7	4	5	6	6	5	6	1	4	8	3	7	4
χ²值		0.489		0.772		9.570		5.801			1.956		3.866
P值		0.728		0.380		0.007		0.060			0.294		0.075

妊娠选择	例数	产前诊断结果		孕妇年龄		孕周		孕次			产次		夫妻最高学历		胎儿超声检查结果
妊娠选择	例数	KS	未知	<35岁	≥35岁	12⁺⁰~22⁺⁶周	≥23周	1次	2次	≥3次	0次	≥1次	专科及以下	本科及以上	结构异常	无结构异常
继续妊娠	14	3	11	7	7	9	5	8	2	4	11	3	8	6	2	12
终止妊娠	26	26	0	16	10	24	2	7	14	5	10	16	6	20	2	24
χ²值		28.177		0.496		4.949		6.245			5.871		4.642		0.440
P值		0.000		0.481		0.039		0.044			0.022		0.043		0.602