孕早期超声检测NT厚度筛查唐氏综合征高风险预后的价值

摘要/Abstract

摘要： 目的探讨与分析孕早期超声检测透明层（nuchaltranslucency,NT）厚度筛查唐氏综合征（Down'ssyndrome,DS）高风险预后的价值。方法选择2019年8月—2023年2月在北流市人民医院进行建档分娩的高危产妇86例作为研究对象,根据唐氏综合征风险值将其分为高风险组（DS筛查风险值≥1/270）与低风险组（DS筛查风险值<1/270）。所有产妇都给予超声检测NT厚度,检测所有产妇的血清妊娠相关蛋白-A联合人绒毛膜促性腺激素含量,判定预后情况。结果高风险组的血清人绒毛膜促性腺激素水平高于低风险组,差异有统计学意义（P<0.05）,而血清妊娠相关蛋白-A水平低于低风险组,差异有统计学意义（P<0.05）。高风险组超声NT厚度显著高于低风险组,差异有统计学意义（P<0.05）。logistic回归分析显示,血清妊娠相关蛋白-A、人绒毛膜促性腺激素含量、超声NT厚度都为导致唐氏综合征高风险发生的重要因素。在高风险组20例中,羊膜穿刺判断为胎儿染色体异常5例,占比25.00%,其中4例为NT增厚产妇。ROC分析显示,孕早期超声检测NT厚度筛查唐氏综合征高风险预后胎儿染色体异常的最大曲线下面积为0.826。结论孕早期唐氏综合征高风险人群多表现为血清人绒毛膜促性腺激素含量升高与血清妊娠相关蛋白-A含量降低,也伴随有超声NT厚度增加,孕早期超声检测NT厚度筛查唐氏综合征高风险人群能有效预测预后情况。

关键词: 孕早期, 唐氏综合征, 透明层厚度, 超声, 高风险, 妊娠相关蛋白-A

Abstract: Objective To explore and analysis the values of ultrasound detection of nuchaltranslucency (NT) thickness in early pregnancy to screen for a high risk prognosis of Down's syndrome (DS). Methods The study period were from August 2019 to February 2023, and 86 cases of high-risk postpartum women who underwent registered delivery n Beiliu People's Hospital were selected as the research subjects. They were divided into the high-risk group (DS screening risk values ≥ 1/270) and the low-risk group (DS screening risk value<1/270) based on the risk value of Down syndrome.All the parturients were given Ultrasonic testing to detect the NT thickness,and the serum pregnancy associated protein-A and Human chorionic gonadotropin levels of all the cases were detected to determine the prognosis. Results There were 20 cases with a risk value of Down syndrome ≥ 1/270 that accounted for 23.26%.The age, gestational week, gestational frequency, parity, systolic blood pressure,diastolic blood pressure,and fasting blood glucose of the high-risk group were not significantly different from those of the low-risk group and were not statistically significant (P>0.05). The serum levels of human chorionic gonadotropin in the high-risk group were significantly higher than those in the low-risk group (P<0.05), while the serum levels of pregnancy associated protein-A were lower than those in the low-risk group (P<0.05). Comparing the thickness of ultrasound NT, it was found that the data in the low-risk group and high-risk group were higher (P<0.05), with the NT thickening rate of 55.00% that were significantly higher than the 9.09% of the low-risk group (P<0.05). Logistic regression analysis showed that serum pregnancy associated protein-A, human chorionic gonadotropin content, and ultrasound NT thickness were important factors leading to a high risk of Down syndrome (95%CI：0.513-0.992、2.174-6.666、1.133-7.184,P<0.001).In the high-risk group of 20 cases, there were 5 cases were diagnosed as fetal chromosomal abnormalities by amniocentesis that accounted for 25.00%, among which 4 cases were NT thickening. ROC analysis showed that the maximum area under the curve of fetal chromosome abnormalities in high-risk prognosis of Down syndrome screened by Ultrasonic testing NT thickness in early pregnancy were 0.826. Conclusion The high risk population of Down's syndrome in the first trimester of pregnancy mostly shows the increase of serum Human chorionic gonadotropin content and the decrease of serum pregnancy related protein-A content, which are also accompanied by the increase of ultrasonic NT thickness. Ultrasonic testing NT thickness in the first trimester of pregnancy can effectively predict the prognosis of high-risk population of Down's syndrome.

Key words: early pregnancy, down syndrome, transparent layer thickness, ultrasound, high risk, pregnancy related protein-A

中图分类号:

张秋燕. 孕早期超声检测NT厚度筛查唐氏综合征高风险预后的价值[J]. 中华养生保健, 2024, 42(14): 29-32.

ZHANG Qiu-yan. The Value of Early Pregnancy Ultrasound Detection of NT Thickness in Screening for High Risk Prognosis of Down Syndrome[J]. ZHONGHUA YANGSHENG BAOJIAN, 2024, 42(14): 29-32.

参考文献

[1] 崔玉,肖建平,杨岚,等.27例胎儿15q11.2 BP1-BP2微缺失综合征孕妇的产前诊断及胎儿生后随访结果[J].中华围产医学杂志,2022,25(4):271-277.
[2] 陈澄,张晓航,董虹美,等.胎儿脐-门-体静脉分流的产前超声特征及预后:14例分析[J].中华围产医学杂志,2022,25(5):349-354.
[3] 王爽,张慧婧,孙瑜,等.北京地区妊娠早期颈部透明层厚度的正常值范围[J].中华妇产科杂志,2022,57(3):210-213.
[4] 邢祎祎,代天怡,杨晓月,等.唐氏综合征产前筛查及诊断研究进展[J].中国生育健康杂志,2022,33(5):499-502.
[5] 梁成初,王游声,卢建,等.1 372例胎儿性染色体非整倍体孕妇的产前诊断指征和妊娠结局及其影响因素[J].中华围产医学杂志,2022,25(12):942-948.
[6] 吴东,张倩,高越,等.6例9p24区微缺失胎儿的产前诊断与遗传学分析[J].中华围产医学杂志,2022,25(2):117-121.
[7] 尚文茹,宛杨,黄葭燕.中国唐氏综合征产前筛查和诊断服务利用现况研究[J].中国妇幼健康研究,2021,32(10):1529-1536.
[8] 苏立,刘素娜,贾晨路,等.孕中期血清学检测联合超声NT筛查在唐氏综合征诊断中的应用价值[J].标记免疫分析与临床,2021,28(3):410-413.
[9] 仲丽美,王英,李春妮,等.胎儿超声NT联合血清PIGF、ADAM12、uE3检测在唐氏综合征的早期预测中的价值分析[J].临床和实验医学杂志,2021,20(2):212-215.
[10] 李凯音,张莉,孙远旭,等.孕11~13周超声NT检查联合血清PLGF、uE3筛查唐氏综合征[J].中国计划生育学杂志,2021,29(10):2204-2207,2252.
[11] 邵菊,姜智明,林燕.胎儿NT联合血清PAPP-A、ADAM12检测在唐氏综合征产前筛查中的临床应用[J].蚌埠医学院学报,2021,46(2):248-251.
[12] 张欢,李臻,胡洋,等.妊娠28周以下出生缺陷儿与围生期出生缺陷儿特征比较[J].中国妇幼保健,2021,36(7):1642-1646.
[13] 韩娟,牛翠茹,孙庆梅,等.甘肃省11~13+6周胎儿FMF角分布在唐氏综合征筛查中的应用研究[J].西南国防医药,2021,31(6):505-507.
[14] 林海滨,张诗婕,吕国荣.产前超声诊断拇指三指节-并指多指综合征1例[J].中国医学影像技术,2021,37(7):1120.
[15] 唐君,何斌,韩代文,等.超声软指标联合血清β-hCG、uE3、AFP检测在孕中期唐氏综合征产前筛查中的应用价值[J].中国优生与遗传杂志,2020,28(7):826-829,885.
[16] 周念,蔡甜,李敏仪,等.血清PAPP-A、β-HCG检测联合超声NT在孕早期唐氏综合征筛查中的应用分析[J].中国优生与遗传杂志,2020,28(2):154-156.
[17] 周游,刘新秀,王文华,等.产前超声诊断胎儿开放性脊柱裂合并18-三体综合征1例[J].中国医学影像技术,2020,36(4):638.
[18] 符春丽,唐梅,郑维秀.超声检查联合血清学三联指标检测筛查胎儿唐氏综合征的应用探讨[J].中国优生与遗传杂志,2020,28(9):1061-1064.
[19] 黄乔,黄泽嫦,唐嘉敏,等.超声检测早孕期胎儿NT在筛查DS中的临床应用价值[J].中国优生与遗传杂志,2020,28(8):954-957.
[20] 郝荣,刘清秀,赵富清,等.早孕期联合筛查法应用于唐氏综合征和18三体综合征的产前筛查[J].中国优生与遗传杂志,2020,28(11):1311-1313,1317.