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本文引用的文献

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Practice Bulletin No. 162: Prenatal Diagnostic Testing for Genetic Disorders.实践公告第 162 号:遗传疾病的产前诊断检测。
Obstet Gynecol. 2016 May;127(5):e108-e122. doi: 10.1097/AOG.0000000000001405.
2
Changing indications for invasive testing in an era of improved screening.在筛查水平提高的时代,侵入性检测的适应症不断变化。
Semin Perinatol. 2016 Feb;40(1):56-66. doi: 10.1053/j.semperi.2015.11.008. Epub 2015 Dec 24.
3
Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis.羊膜穿刺术和绒毛取样术后与操作相关的流产风险:一项系统评价和荟萃分析。
Ultrasound Obstet Gynecol. 2015 Jan;45(1):16-26. doi: 10.1002/uog.14636.
4
Terminations of pregnancy in the European Union.欧盟的妊娠终止。
BJOG. 2012 Feb;119(3):324-32. doi: 10.1111/j.1471-0528.2011.03189.x. Epub 2011 Nov 30.
5
Prenatal cytogenetic diagnosis in Spain: analysis and evaluation of the results obtained from amniotic fluid samples during the last decade.西班牙的产前细胞遗传学诊断:对过去十年间羊水样本检测结果的分析和评估。
Eur J Obstet Gynecol Reprod Biol. 2011 Aug;157(2):156-60. doi: 10.1016/j.ejogrb.2011.03.016. Epub 2011 Apr 13.
6
Prediction of miscarriage and stillbirth at 11-13 weeks and the contribution of chorionic villus sampling.11-13 孕周时流产和死胎的预测及绒毛取样的作用。
Prenat Diagn. 2011 Jan;31(1):38-45. doi: 10.1002/pd.2644.
7
Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. 常规核型分析技术之外的阵列比较基因组杂交技术在产前诊断中的应用:系统评价和荟萃分析。
Ultrasound Obstet Gynecol. 2011 Jan;37(1):6-14. doi: 10.1002/uog.7754.
8
Update on procedure-related risks for prenatal diagnosis techniques.产前诊断技术相关程序风险的最新进展。
Fetal Diagn Ther. 2010;27(1):1-7. doi: 10.1159/000271995. Epub 2009 Dec 24.
9
Revisiting the fetal loss rate after second-trimester genetic amniocentesis: a single center's 16-year experience.重新审视孕中期遗传羊膜腔穿刺术后的胎儿丢失率:单中心16年经验
Obstet Gynecol. 2008 Mar;111(3):589-95. doi: 10.1097/AOG.0b013e318162eb53.
10
Rapid prenatal diagnosis by QF-PCR: evaluation of 30,000 consecutive clinical samples and future applications.荧光定量聚合酶链反应用于快速产前诊断:30000例连续临床样本评估及未来应用
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单中心2185例产前侵入性操作的总结:一项回顾性分析。

Summary of 2185 prenatal invasive procedures in a single center: A retrospective analysis.

作者信息

Özcan Hüseyin Çağlayan, Uğur Mete Gürol, Sucu Seyhun, Mustafa Aynur, Bayramoğlu Tepe Neslihan, Balat Özcan

机构信息

Gaziantep University Faculty of Medicine, Department of Obstetrics and Gynecology, Gaziantep, Turkey.

出版信息

Turk J Obstet Gynecol. 2017 Jun;14(2):114-120. doi: 10.4274/tjod.36097. Epub 2017 Jun 15.

DOI:10.4274/tjod.36097
PMID:28913147
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5558411/
Abstract

OBJECTIVE

To determine the frequency, indications, and outcomes of diagnostic invasive prenatal procedures (DIPP) performed in a university hospital.

MATERIALS AND METHODS

This retrospective, observational study included 2185 cases of DIPP (chorionic villus sampling, amniocentesis, and cordocentesis) performed at the department of obstetrics and gynecology of a university hospital between 2010 and 2016. We included all DIPP cases performed between 11 and 24 weeks of gestation. We compared the different types of DIPP performed in our hospital.

RESULTS

Two thousand one hundred eighty-five procedures were performed (1853 amniocenteses, 326 chorionic villus sampling, and 6 cordocenteses). The main indication for performing invasive procedures was abnormal results of aneuploidy screening for trisomy 21, followed by maternal age, and fetal structural abnormality. The fetal karyotype was altered in 154 (26.1%) cases. Trisomy 21 was the most common aneuploidy followed by trisomy 18, monosomy X, and trisomy 13. Fetal karyotype could not be revealed in 42 (2%) cases due to maternal contamination in 18 cases, inadequate sampling in 4 cases, and failure of cell culture in 27 cases. There were 2 pregnancy losses due to the invasive procedure (only in amniocentesis).

CONCLUSION

The ideal approach to pregnancies with a detected chromosomal abnormality should be tailored according to the individual choice of the couples regarding whether they decide for or against a child with a known chromosomal abnormality.

摘要

目的

确定在一所大学医院进行的诊断性侵入性产前检查(DIPP)的频率、适应证及结果。

材料与方法

这项回顾性观察性研究纳入了2010年至2016年间在一所大学医院妇产科进行的2185例DIPP(绒毛取样、羊膜穿刺术和脐血穿刺术)。我们纳入了所有妊娠11至24周期间进行的DIPP病例。我们比较了在我院进行的不同类型的DIPP。

结果

共进行了2185例手术(1853例羊膜穿刺术、326例绒毛取样和6例脐血穿刺术)。进行侵入性检查的主要适应证是21三体非整倍体筛查结果异常,其次是母亲年龄和胎儿结构异常。154例(26.1%)胎儿核型发生改变。21三体是最常见的非整倍体,其次是18三体、X单体和13三体。42例(2%)病例因18例母亲污染、4例取样不足和27例细胞培养失败而未能显示胎儿核型。有2例因侵入性检查导致妊娠丢失(仅在羊膜穿刺术中)。

结论

对于检测到染色体异常的妊娠,理想的处理方法应根据夫妇双方对于是否决定生育已知染色体异常患儿的个人选择来量身定制。