[1]张丽珍,魏瑗*,白力伟.无创产前检测在孤立性超声软指标异常低危 孕妇中的临床应用探讨[J].中国计划生育和妇产科,2020,(8):49-52,58.
　ZHANG Lizhen,WEI Yuan*,BAI Liwei.Clinical application of NIPT in lowrisk pregnant women with solitary abnormal ultrasound soft marker[J].Chinese Journal of Family Planning & Gynecotokology,2020,(8):49-52,58.
点击复制

无创产前检测在孤立性超声软指标异常低危 孕妇中的临床应用探讨
分享到：

《中国计划生育和妇产科》[ISSN:1674-4020/CN:51-1708/R]

卷:
期数:
2020年8期
页码:
49-52,58
栏目:
论著与临床
出版日期:
2020-08-25

文章信息/Info

Title:
Clinical application of NIPT in lowrisk pregnant women with solitary abnormal ultrasound soft marker
作者:
张丽珍1; 魏瑗2*; 白力伟1
河北秦皇岛,秦皇岛市妇幼保健院妇产科；2.100191北京，北京大学第三医院妇产科
Author(s):
ZHANG Lizhen1; WEI Yuan2*; BAI Liwei1
1.Department of Obstetrics and Gynecology，Qinhuangdao Maternal and Child Healthcare Hospital，Qinhuangdao Hebei 066000，2.Department of Obstetrics and Gynecology，Peking University Third Hospital,Beijing 100191，P.R.China
关键词:
NIPT; 超声软指标异常; 染色体核型分析; 染色体异常
Keywords:
noninvasive prenatal testing; ultrasonic soft markers; chromosome abnormality;  chromosome karyotype analysis
分类号:
R 71453
摘要:
目的探讨无创产前检测( noninvasive prenatal test，NIPT)在孤立性超声软指标异常低危孕妇中的临床应用价值。方法回顾性收集秦皇岛市妇幼保健院2017年7月至2018年9月低危孕妇1 965例（＜35岁，自然受孕，无不良孕产史，单胎），其中超声提示孤立性软指标异常者752例（研究组）,进行遗传咨询后，自愿进行NIPT检测，同期无超声软指标异常而自愿行NIPT者1 213例（对照组），对NIPT高风险者羊水穿刺后进行染色体核型分析。结果研究组NIPT提示9例染色体高风险，其中7例行羊水穿刺检查，检出21三体2例，18三体和性染色体异常各1例，非整倍体发生率053 %。对照组NIPT提示9例染色体高风险，其中5例行羊水穿刺，检出18三体1例，性染色体异常1例，非整倍体发生率016 %。随访两组NIPT低风险孕妇均未发现假阴性病例。两组孕妇非整倍体发生率比较,差异无统计学意义（P>005）。NIPT对于21三体，18三体及性染色体非整倍体检出率达100 %，总体假阳性率为031 %。结论对于孤立性超声软指标异常者进行NIPT筛查可以安全有效地检出染色体异常者，减少侵入性产前诊断的风险。
Abstract:
ObjectiveTo study the clinical application value of noninvasive prenatal test(NIPT) in lowrisk pregnant women with solitary abnormal ultrasound soft markers.MethodsA retrospective collection of 1 965 lowrisk pregnant women in Qinhuangdao Maternal and Child Healthcare Hospital from July 2017 to September 2018(<35 years of age, spontaneous conception, no history of adverse pregnancy,singleton),among which, there were 752 cases with solitary abnormal soft markers of ultrasound (research group). After genetic counseling, NIPT test was voluntarily performed. In the same period, there were 1 213 patients who voluntarily performed NIPT without abnormal soft markers of ultrasound (control group). Karyotype analysis was performed after amniocentesis.Results9 cases of chromosomal abnormality were screend by NIPT in research group,7 of 9 cases accepted 1 amniocentesis.2 cases of trisomy 21，1 case of trisomy 18 and 1 case of sex chromosome abnormality were checked out, the incidence of aneuploidy was 053 %.In the control group,9 cases of chromosomal abnormality were screend by NIPT, of which 5 underwent amniocentesis.1 case of trisomy 18 and 1 case of sex chromosome abnormality were checked out, and the incidence of aneuploidy was 016 %.There is no statistical difference of fetal aneuploidy detection rate between the two groups (P>005).The detection rate of NIPT for trisomy 21, trisomy 18 and sex chromosome aneuploidy reached 100 %,the overall false positive rate was 031 %.ConclusionNIPT screening for those with abnormal soft ultrasound markers can detect chromosomal abnormalities safely and effectively, reducing the risk of invasive prenatal diagnosis.

参考文献/References:

［1］Grijseels E W, CohenOverbeek T E, Adama V S P, et al. Sonomarkers: subtle ultrasound findings in the 20week ultrasound examination, which have a low association with some chromosomal and nonchromosomal abnormalities in the fetus［J］. Ned Tijdschr Geneeskd,2008,152(41):22252231. ［2］Park H S, Seong W J, Hong J S, et al. The practice patterns of second trimester fetal ultrasonography: A questionnaire survey and an analysis of checklists［J］. Obstetrics & Gynecology Science,2015,58(6):446. ［3］Raniga S, Desai P D, Parikh H. Ultrasonographic soft markers of aneuploidy in second trimester: are we lost?［J］. Med Gen Med,2006,8(1):9. ［4］Malinova M. Ultrasound markers for Down syndrome［J］. Akush Ginekol (Sofiia),2011,50(6):3742. ［5］ Hayat R A, Ingvoldstad C, Lindgren P. Fetal ultrasound examination and assessment of genetic soft markers in Sweden: are ethical principles respected?［J］. Acta Obstet Gynecol Scand,2015,94(2):141147. ［6］李佳欣，魏瑗，赵扬玉. 胎儿游离DNA浓度低导致无创产前检测失败的相关因素研究进展 ［J］. 中华围产医学杂志,2019,22(1):3034. ［7］Lewis C, Hill M, Chitty L S. Women's experiences and preferences for service delivery of noninvasive prenatal testing for aneuploidy in a public health setting: A mixed methods study［J］. PLoS One,2016,11(4):e 153147. ［8］Sacco A, Hewitt H, Pandya P. Women's choices in noninvasive prenatal testing for aneuploidy screening: results from a single centre prior to introduction in England［J］. Arch Dis Child,2020,105(1):4752. ［9］包歆，陈念念，臧潇潇,等. 无创DNA产前检测技术对单项超声软指标异常孕妇筛查胎儿染色体异常的临床价值［J］. 中国优生与遗传杂志,2017,25(12):2425. ［10］Coco C, Jeanty P, Jeanty C. An isolated echogenic heart focus is not an indication for amniocentesis in 12,672 unselected patients［J］. J Ultrasound Med,2004,23(4):489496. ［11］Lorente A, MorenoCid M, Rodriguez M J, et al. Metaanalysis of validity of echogenic intracardiac foci for calculating the risk of Down syndrome in the second trimester of pregnancy ［J］. Taiwan J Obstet Gynecol,2017,56(1):1622. ［12］Caughey A B, Lyell D J, Filly R A, et al. The impact of the use of the isolated echogenic intracardiac focus as a screen for Down syndrome in women under the age of 35 years［J］. Am J Obstet Gynecol,2001,185(5):10211027. ［13］Wax J R, Mather J, Steinfeld J D, et al. Fetal intracardiac echogenic foci: current understanding and clinical significance［J］. Obstet Gynecol Surv,2000,55(5):303311. ［14］Yoder P R, Sabbagha R E, Gross S J, et al. The secondtrimester fetus with isolated choroid plexus cysts: a metaanalysis of risk of trisomies 18 and 21［J］. Obstet Gynecol,1999,93(5 Pt 2):869872. ［15］Achiron R, Barkai G, Katznelson M B, et al. Fetal lateral ventricle choroid plexus cysts: the dilemma of amniocentesis ［J］. Obstet Gynecol,1991,78(5 Pt 1):815818. ［16］Demasio K, Canterino J, Ananth C, et al. Isolated choroid plexus cyst in lowrisk women less than 35 years old ［J］. Am J Obstet Gynecol,2002,187(5):12461249. ［17］Nan Y, Liu Z Y, Zhang J, et al. Relationship between the choroid plexus cyst and the aneuploidy［J］. Zhonghua Yi Xue Za Zhi,2018,98(37):29872990. ［18］Bromley B, Doubilet P, Frigoletto F J, et al. Is fetal hyperechoic bowel on secondtrimester sonogram an indication for amniocentesis?［J］. Obstet Gynecol,1994,83(5 Pt 1):647651. ［19］AlKouatly H B, Chasen S T, Streltzoff J, et al. The clinical significance of fetal echogenic bowel［J］. Am J Obstet Gynecol,2001,185(5):10351038. ［20］Ronin C, Mace P, Stenard F, et al. Antenatal prognostic factor of fetal echogenic bowel［J］. Eur J Obstet Gynecol Reprod Biol,2017,212:166170. ［21］Vintzileos A M, Egan J F. Adjusting the risk for trisomy 21 on the basis of secondtrimester ultrasonography［J］. Am J Obstet Gynecol,1995,172(3):837844. ［22］Chudleigh P M, Chitty L S, Pembrey M, et al. The association of aneuploidy and mild fetal pyelectasis in an unselected population: the results of a multicenter study ［J］. Ultrasound Obstet Gynecol,2001,17(3):197202. ［23］Carbone J F, Tuuli M G, Dicke J M, et al. Revisiting the risk for aneuploidy in fetuses with isolated pyelectasis ［J］. Prenat Diagn,2011,31(6):566570. ［24］Havutcu A E, Nikolopoulos G, Adinkra P, et al. The association between fetal pyelectasis on second trimester ultrasound scan and aneuploidy among 25,586 low risk unselected women［J］. Prenat Diagn,2002,22(13):12011206. ［25］Nicolaides K H. Screening for chromosomal defects［J］. Ultrasound in Obstetrics and Gynecology,2003,21(4):313321. ［26］Shi X M, Fang Q, Chen B J, et al. Investigation of ultrasound markers in screening fetal trisomy 21 ［J］. Zhonghua Fu Chan Ke Za Zhi,2013,48(2):8185. ［27］Nyberg D A, Resta R G, Luthy D A, et al. Humerus and femur length shortening in the detection of Down's syndrome［J］. Am J Obstet Gynecol,1993,168(2):534538. ［28］Persutte W H, Hobbins J. Single umbilical artery: a clinical enigma in modern prenatal diagnosis［J］. Ultrasound Obstet Gynecol,1995,6(3):216229. ［29］Voskamp B J, FleurkeRozema H, OudeRengerink K, et al. Relationship of isolated single umbilical artery to fetal growth, aneuploidy and perinatal mortality: systematic review and metaanalysis ［J］. Ultrasound Obstet Gynecol,2013,42(6):622628.

更新日期/Last Update: 2020-08-25