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本文引用的文献

1
Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis.染色体异常筛查委员会代表国际产前诊断学会理事会发表的立场声明。
Prenat Diagn. 2015 Aug;35(8):725-34. doi: 10.1002/pd.4608. Epub 2015 Jun 4.
2
Evaluating the incidence and likelihood ratios for chromosomal abnormalities in fetuses with common central nervous system malformations.评估患有常见中枢神经系统畸形胎儿染色体异常的发病率和似然比。
Am J Obstet Gynecol. 2008 Sep;199(3):285.e1-6. doi: 10.1016/j.ajog.2008.06.100.
3
RETIRED: Fetal soft markers in obstetric ultrasound.已退休:产科超声检查中的胎儿软指标。
J Obstet Gynaecol Can. 2005 Jun;27(6):592-636. doi: 10.1016/s1701-2163(16)30720-4.

脉络丛囊肿的产前诊断:接下来该怎么做?

Prenatal Diagnosis of Choroid Plexus Cyst: What Next?

作者信息

Shah Nupur

机构信息

Paras Bliss Hospital Fetal Medicine Centre, Panchkula, Haryana India.

出版信息

J Obstet Gynaecol India. 2018 Oct;68(5):366-368. doi: 10.1007/s13224-017-1047-7. Epub 2017 Sep 12.

DOI:10.1007/s13224-017-1047-7
PMID:30224840
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6133789/
Abstract

INTRODUCTION AND OBJECTIVE

Fetal choroid plexus cysts (CPC) are often detected on prenatal ultrasounds and pose a need to formulate protocol for management and counseling.

METHODOLOGY

A total of 1024 unselected cases between gestational ages 11 and 20 weeks were sonologically screened for CPC in 1-year period. On ultrasound, CPC are seen as sonolucent spaces in the echogenic choroid plexus of lateral ventricles of brain measuring at least 2-3 mm in diameter. Those diagnosed with CPC were subjected to thorough anomaly scan. Prenatal karyotype was offered in cases of associated anomalies.

RESULTS

The incidence of CPC is 1% (10/1024) in this study. Associated anomalies were found in 20% (2/10) of cases, which were offered invasive testing for fetal karyotype. All the cases with isolated CPC had good outcome.

CONCLUSIONS

Isolated CPC with low-risk biochemical screening for aneuploidies are now considered normal variants rather than a pathology, need no invasive testing and carry a good prognosis. CPC associated with other anomalies warrant invasive testing and are more likely to be associated with Trisomy 18.

摘要

引言与目的

胎儿脉络丛囊肿(CPC)常在产前超声检查中被发现,因此需要制定管理和咨询方案。

方法

在1年时间里,对1024例孕龄在11至20周之间未经筛选的病例进行了CPC的超声筛查。在超声检查中,CPC表现为脑侧脑室强回声脉络丛内的无回声区,直径至少2 - 3毫米。那些被诊断为CPC的病例接受了全面的畸形扫描。对于伴有相关畸形的病例,进行了产前核型分析。

结果

本研究中CPC的发生率为1%(10/1024)。20%(2/10)的病例发现有相关畸形,这些病例接受了胎儿核型的侵入性检测。所有孤立性CPC病例预后良好。

结论

对于非整倍体低风险生化筛查的孤立性CPC,现在被认为是正常变异而非病理情况,无需进行侵入性检测,且预后良好。与其他畸形相关的CPC需要进行侵入性检测,并且更有可能与18三体相关。