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中华妇幼临床医学杂志(电子版) ›› 2022, Vol. 18 ›› Issue (06) : 685 -691. doi: 10.3877/cma.j.issn.1673-5250.2022.06.010

论著

孕妇无创产前检测结果的大样本分析
张禾璇†(), 宋咏刚, 杨雪   
  1. 贵州省贵阳市妇幼保健院优生遗传科，贵阳　550001
  • 收稿日期:2022-06-21 修回日期:2022-11-09 出版日期:2022-12-01
  • 通信作者: 张禾璇

Results of non-invasive prenatal testing to pregnant women: a large sample analysis

Hexuan Zhang†(), Yonggang Song, Xue Yang   

  1. Department of Eugenics and Genetics, Guiyang Maternal and Child Health Care Hospital, Guiyang 550001, Guizhou Province, China
  • Received:2022-06-21 Revised:2022-11-09 Published:2022-12-01
  • Corresponding author: Hexuan Zhang
  • Supported by:
    Clinical Special Project of Science and Technology Plan of Guizhou Provincial Department of Science and Technology([2022]005); High-Level Innovative Youth Health Talent Training Program of Guiyang Health and Family Planning Commission([2018]017)
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引用本文：

张禾璇, 宋咏刚, 杨雪. 孕妇无创产前检测结果的大样本分析[J]. 中华妇幼临床医学杂志(电子版), 2022, 18(06): 685-691.

Hexuan Zhang, Yonggang Song, Xue Yang. Results of non-invasive prenatal testing to pregnant women: a large sample analysis[J]. Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition), 2022, 18(06): 685-691.

目的

探讨孕妇无创产前检测(NIPT)大样本筛查结果分析及异常情况。

方法

选取2018年1月1日至2020年12月31日，在贵阳市妇幼保健院完成NIPT筛查的22 908例单胎妊娠孕妇为研究对象。对NIPT筛查结果显示高风险者，进一步采取羊水穿刺术进行胎儿染色体核型分析产前诊断。回顾性收集所有孕妇年龄、NIPT筛查指征、产前诊断结果等临床病例资料。本研究遵循的程序符合贵阳市妇幼保健院医学伦理委员会规定，并通过该伦理委员会审查及批准(审批文号：2021-56号)。

结果

①本组22 908例孕妇中，NIPT筛查指征包括：高龄(预产期年龄≥35岁)孕妇为7 286例(31.81%)，血清学筛查结果异常者为2 491例(10.87%)，因错过血清学筛查时间进行NIPT筛查者为610例(2.66%)，其他NIPT筛查指征(不良孕产史、胎儿超声提示脉络从囊肿、双胎之一停止发育等)为563例(2.46%)，无NIPT指征而自愿要求进行NIPT者为11 958例(52.20%)。②本组22 908例孕妇中，NIPT筛查结果为高风险者为363例(1.58%)，包括72例(0.31%)胎儿21-三体综合征(TS)、20例(0.09%)18-TS、10例(0.04%)13-TS与131例(0.57%)性染色体非整倍体(SCA)及130例(0.57%)其他染色体异常高风险；分别占363例NIPT高风险孕妇的19.83%(72/363)、5.51%(20/363)、2.75%(10/363)、36.09%(131/363)与35.81%(130/363)。③363例NIPT高风险孕妇中，298例(82.09%)接受羊水穿刺术进行胎儿染色体核型分析产前诊断，其结果与NIPT结果相符者共计186例(62.42%)。胎儿21-、18-、13-TS与SCA及其他染色体异常者的NIPT筛查确诊率分别为93.06%(67/72)、90.00%(18/20)、88.89%(8/9)、55.56%(70/126)、32.40%(23/71)。确诊胎儿21-TS、SCA的孕妇中，高龄孕妇分别占71.64%(48/67)与55.71%(39/70)。

结论

本研究纳入孕妇的NIPT高风险筛查结果以胎儿SCA、其他染色体异常与21-TS为主，孕妇高龄是胎儿21-TS、SCA高风险的重要影响因素。NIPT筛查结果准确度与胎儿染色体异常类型有关。

关键词: 无创产前检测, 产前诊断, 染色体畸变, 性染色体畸变, 母体血清学筛查, 孕妇, 胎儿
Objective

To investigate the analysis and abnormalities of non-invasive prenatal testing (NIPT) results in a large sample of pregnant women.

Methods

A total of 22 908 pregnant women who underwent NIPT in Guiyang Maternal and Child Health Care Hospital from January 1, 2018 to December 31, 2020 were selected as research subjects. Further prenatal diagnosis by amniocentesis for karyotype analysis was performed on those with high risk of NIPT results. The age, NIPT indication, prenatal diagnosis results and other clinical data of all pregnant women were retrospectively collected. The procedure followed in this study was in accordance with the regulations of the Ethics Committee of Guiyang Maternal and Child Health Care Hospital, and was reviewed and approved by the Ethics Committee (Approval No.2021-56).

Results

①Among 22 908 pregnant women, NIPT indications included: 7 286 cases (31.81%) of pregnant women with advanced age (≥35 years old at expected date of delivery), 2 491 cases (10.87%) with abnormal serological screening results, 610 cases (2.66%) received NIPT due to missed serological screening, 563 cases (2.46%) with other NIPT indications (poor pregnancy and labor history, choroids from cysts in fetal ultrasound, termination of one of the twins, etc.), and 11 958 cases (52.20%) volunteered for NIPT without NIPT indication. ②Among 22 908 pregnant women, 363 cases (1.58%) were with high risk of NIPT, including 72 cases (0.31%) of high risk of fetal 21-trisomy syndrome (TS), 20 cases (0.09%) of fetal 18-TS, 10 cases (0.04%) of 13-TS, 131 cases (0.57%) of sex chromosome aneuploidy (SCA) and 130 cases (0.57%) of other chromosomal abnormalities, respectively, accounting for 19.83% (72/363), 5.51% (20/363), 2.75% (10/363), 36.09% (131/363) and 35.81% (130/363) of the high risk of NIPT. ③Among 363 cases with high risk of NIPT, 298 cases (82.09%) received amniocentesis chromosome karyotype analysis. There were 186 cases (62.42%) with prenatal diagnosis results consistent with NIPT results. The diagnostic rate of NIPT screening for fetal 21-TS, 18-TS, 13-TS, SCA and other chromosomal abnormalities was 93.06% (67/72), 90.00% (18/20), 88.89% (8/9), 55.56% (70/126) and 32.40% (23/71), respectively. Among the pregnant women with confirmed fetal 21-TS and SCA, pregnant women with advanced age accounted for 71.64% (48/67) and 55.71% (39/70), respectively.

Conclusions

Fetal SCA, other chromosomal abnormalities and 21-TS are the main risk factors of NIPT in pregnant women in this study. The advanced age of pregnant women is an important factor affecting the high risk of fetal 21-TS and SCA. The accuracy of NIPT results is related to the types of chromosomal abnormalities.

Key words: Non-invasive prenatal testing, Prenatal diagnosis, Chromosome aberrations, Sex chromosome aberrations, Maternal serum screening tests, Pregnant women, Fetus
表1 本组22 908例NIPT孕妇NIPT筛查指征比较
NIPT筛查指征 例数 构成比(%)
孕妇高龄(预产期年龄≥35岁) 7 286 31.81
血清学筛查结果异常 2 491 10.87
错过血清学筛查时间 610 2.66
其他NIPT筛查指征a 563 2.46
自愿进行NIPT筛查b 11 958 52.20
合计 22 908 100.00
表2 本组22 908例NIPT筛查结果为高、低风险孕妇的NIPT筛查指征及二胎妊娠占比比较[例数(%)]
NIPT筛查结果 例数 孕妇高龄 自愿进行NIPT筛查a 血清学筛查结果异常 错过血清学筛查时间 其他NIPT筛查指征b 二胎妊娠
高风险 363 106(29.20) 190(52.34) 30(8.26) 20(5.51) 17(4.68) 79(21.76)
低风险 22 545 7 180(31.85) 11 768(52.20) 2 461(10.92) 590(2.62) 546(2.42) 3 807(16.89)
χ2值 1.15 0.01 2.59 11.53 7.62 6.03
P值 0.283 0.956 0.107 <0.001 0.006 0.014
表3 本组363例NIPT筛查结果为胎儿染色体不同非整倍体异常孕妇的NIPT筛查指征及二胎妊娠占比比较[例数(%)]
NIPT筛查结果 例数 孕妇高龄 自愿进行NIPT筛查a 血清学筛查结果异常 错过血清学筛查时间 其他NIPT筛查指征b 二胎妊娠
21-TS高风险 72 52(72.22) 9(12.50) 10(13.89) 0(0) 1(1.39) 15(20.83)
18-TS高风险 20 8(40.00) 9(45.00) 2(10.00) 1(5.00) 0(0) 3(15.00)
13-TS高风险 10 1(10.00) 7(70.00) 1(10.00) 0(0) 1(10.00) 2(20.00)
SCA 131 26(19.85) 78(59.54) 13(9.92) 13(9.92) 1(0.76) 46(35.11)
胎儿其他染色体异常 130 19(14.62) 87(66.92) 4(3.08) 6(4.62) 14(10.77) 13(10.00)
合计 363 106(29.20) 190(52.34) 30(8.26) 20(5.51) 17(4.68) 79(21.76)
表4 NIPT筛查结果为高风险的298例孕妇的NIPT筛查指征及进一步产前诊断情况与二胎妊娠占比比较[例数(%)]
NIPT筛查结果 产前诊断例数 确诊总例数a 孕妇高龄b 自愿进行NIPT筛查b 血清学筛查结果异常b 错过血清学筛查时间b 其他NIPT筛查指征b 二胎妊娠b
21-TS高风险 72 67(93.06) 48(71.64) 9(13.43) 9(13.43) 0(0) 1(1.49) 13(19.40)
18-TS高风险 20 18(90.00) 7(38.89) 8(44.44) 2(11.11) 1(5.56) 0(0) 2(11.11)
13-TS高风险 9 8(88.89) 2(25.00) 5(62.50) 0(0) 0(0) 1(12.50) 1(12.50)
SCA 126 70(55.56) 39(55.71) 21(30.00) 5(7.14) 4(5.71) 1(1.43) 18(25.71)
胎儿其他染色体异常 71 23(32.40) 8(34.78) 10(43.48) 0(0) 1(4.35) 4(17.39) 7(30.43)
合计 298 186(62.42) 104(55.91) 53(28.49) 16(8.60) 6(3.23) 7(3.76) 41(22.04)
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