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一家三级中心绒毛取样的连续5年结果。

Consecutive 5-year outcomes of chorionic villus sampling at a tertiary center.

作者信息

Kuyucu Melda, Erdogan Kadri Murat, Adiyaman Duygu, Konuralp Atakul Bahar, Golbasi Hakan, Kutbay Yasar Bekir, Gokmen Karasu Ayse Filiz, Ozeren Mehmet

机构信息

Department of Obstetrics and Gynecology, Bezmialem Vakif University Medical Faculty, Istanbul, Turkey.

Department of Obstetrics and Gynecology, Division of Perinatology, Tepecik Training and Research Hospital, Izmir, Turkey.

出版信息

Medicine (Baltimore). 2025 Feb 14;104(7):e41582. doi: 10.1097/MD.0000000000041582.

DOI:10.1097/MD.0000000000041582
PMID:39960922
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11835121/
Abstract

This study shares our 5-year experience with chorionic villus sampling (CVS) and analyzes the indications, results, and complications of this procedure. We conducted a retrospective analysis of data from singleton pregnancies that underwent CVS between 2015 and 2020 at the Maternal-Fetal Medicine Unit of Health Science University, Izmir Tepecik Research, and Training Hospital. Maternal demographics, indications, karyotype results, and pregnancy outcomes were recorded. We retrospectively analyzed data from 468 CVS procedures, conducted between 2015 and 2020. The most common indications for CVS were positive screening test results in the first trimester, fetal structural abnormalities, and increased nuchal translucency (NT) observed during ultrasound. Fetal structural abnormalities had the highest detection rate, at 34.5% for chromosomal abnormalities, followed by increased NT and first-trimester screen-positive test results (26.9% and 11.3%), respectively. The culture success rate was 96.3% (451 out of 468). The most prevalent chromosomal abnormalities were numerical, including Trisomy 21 (10.9%), Trisomy 18 (4.2%), and Trisomy 13 (1.9%). Results could not be obtained in 17 patients (3.6%); 12 (2.5%) were due to insufficient samples and culture failure, while 5 (1.06%) were due to maternal contamination. Amniocentesis was required as a secondary sampling in 24 cases (5.1%) and performed in 17 cases (3.6%). This study emphasizes the significance of CVS in prenatal diagnosis and the management of high-risk pregnancies. However, we must be aware of the associated risks and limitations, which include culture success rates, inconclusive results, and the occasional need for secondary sampling.

摘要

本研究分享了我们在绒毛取样(CVS)方面的5年经验,并分析了该操作的适应症、结果及并发症。我们对2015年至2020年在伊兹密尔特佩奇克研究与培训医院健康科学大学母胎医学科接受CVS的单胎妊娠数据进行了回顾性分析。记录了产妇人口统计学资料、适应症、核型结果及妊娠结局。我们回顾性分析了2015年至2020年间进行的468例CVS操作的数据。CVS最常见的适应症是孕早期筛查试验结果阳性、胎儿结构异常以及超声检查时观察到的颈项透明层(NT)增厚。胎儿结构异常的检出率最高,染色体异常为34.5%,其次是NT增厚和孕早期筛查阳性试验结果(分别为26.9%和11.3%)。培养成功率为96.3%(468例中的451例)。最常见的染色体异常是数目异常,包括21三体(10.9%)、18三体(4.2%)和13三体(1.9%)。17例患者(3.6%)未能获得结果;12例(2.5%)是由于样本不足和培养失败,5例(1.06%)是由于母体污染。24例(5.1%)需要进行二次取样羊水穿刺,其中17例(3.6%)进行了操作。本研究强调了CVS在产前诊断和高危妊娠管理中的重要性。然而,我们必须意识到其相关风险和局限性,包括培养成功率、结果不明确以及偶尔需要二次取样。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/792b/11835121/6a3bd16f3423/medi-104-e41582-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/792b/11835121/6a3bd16f3423/medi-104-e41582-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/792b/11835121/6a3bd16f3423/medi-104-e41582-g001.jpg

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本文引用的文献

1
Analysis of the results of non-invasive prenatal testing (NIPT) in 545 pregnant women in advanced maternal age.高龄孕妇 545 例无创产前检测(NIPT)结果分析。
Eur Rev Med Pharmacol Sci. 2023 Aug;27(15):7101-7106. doi: 10.26355/eurrev_202308_33283.
2
A Multi-centre Experience of Trans-abdominal Chorionic Villus Sampling in Pakistan.巴基斯坦经腹绒毛取样的多中心经验。
J Coll Physicians Surg Pak. 2023 Jan;33(1):37-40. doi: 10.29271/jcpsp.2023.01.37.
3
Antenatal screening for chromosomal abnormalities.产前筛查染色体异常。
Arch Gynecol Obstet. 2022 Apr;305(4):825-835. doi: 10.1007/s00404-022-06477-5. Epub 2022 Mar 13.
4
Routinization of prenatal screening with the non-invasive prenatal test: pregnant women's perspectives.将非侵入性产前检测常规化用于产前筛查:孕妇的观点。
Eur J Hum Genet. 2022 Jun;30(6):661-668. doi: 10.1038/s41431-021-00940-8. Epub 2021 Aug 13.
5
Screening for Fetal Chromosomal Abnormalities: ACOG Practice Bulletin, Number 226.筛查胎儿染色体异常:ACOG 实践公告,第 226 号。
Obstet Gynecol. 2020 Oct;136(4):e48-e69. doi: 10.1097/AOG.0000000000004084.
6
Chorionic villus sampling: 10 years of experience in a University referral center.绒毛膜绒毛取样:大学转诊中心 10 年的经验。
J Gynecol Obstet Hum Reprod. 2020 May;49(5):101715. doi: 10.1016/j.jogoh.2020.101715. Epub 2020 Feb 19.
7
Down syndrome.唐氏综合征。
Nat Rev Dis Primers. 2020 Feb 6;6(1):9. doi: 10.1038/s41572-019-0143-7.
8
Risk factors for failed chorionic villus sampling: results of a 4-year retrospective study.绒毛取样失败的风险因素:一项4年回顾性研究的结果
J Matern Fetal Neonatal Med. 2022 Jan;35(1):141-146. doi: 10.1080/14767058.2020.1712713. Epub 2020 Jan 12.
9
Fetal Genetic Diagnosis by Chorionic Villus Sampling: Evaluation of the Five-Year Experience from a Single Center.通过绒毛膜活检进行胎儿基因诊断:来自单个中心的五年经验评估。
Fetal Pediatr Pathol. 2021 Aug;40(4):281-289. doi: 10.1080/15513815.2019.1707919. Epub 2020 Jan 3.
10
Chorionic villus sampling experience of a reference perinatal medicine center.一家围产医学中心的绒毛膜绒毛取样经验。
Ann Hum Genet. 2020 May;84(3):229-234. doi: 10.1111/ahg.12365. Epub 2019 Dec 4.