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孤立性脉络丛囊肿——常规提供染色体核型分析的必要性。

Isolated choroid plexus cysts--the need for routine offer of karyotyping.

作者信息

Walkinshaw S, Pilling D, Spriggs A

机构信息

Fetal Centre, Liverpool Maternity Hospital, U.K.

出版信息

Prenat Diagn. 1994 Aug;14(8):663-7. doi: 10.1002/pd.1970140804.

DOI:10.1002/pd.1970140804
PMID:7632201
Abstract

The management of isolated fetal choroid plexus cysts remains controversial. We have prospectively studied 15,565 pregnancies at two large obstetric units for the presence of choroid plexus cysts. In all cases where cysts were present at 19 weeks' gestation or greater, and were multiple, bilateral or solitary and greater than 5 mm maximum diameter, women were offered amniocentesis or placental biopsy, irrespective of the presence or absence of other abnormalities. Choroid plexus cysts were present in 152 (0.98 per cent) of cases. Four cases (2.6 per cent) of autosomal trisomy (three of trisomy 18, one of trisomy 21) were detected on prenatal karyotyping. In all cases, choroid plexus cysts were the only detectable prenatal anomaly. This study and a review of other large studies do not support the view that isolated choroid plexus cysts are a benign variant, the risk of trisomy being 1 in 82. Until further evidence is available, we recommend that cases of isolated fetal choroid plexus cysts at 19 weeks' gestation or greater should be offered prenatal karyotyping.

摘要

孤立性胎儿脉络丛囊肿的处理仍存在争议。我们在两个大型产科单位对15565例妊娠进行了前瞻性研究,以观察脉络丛囊肿的情况。在所有妊娠19周及以上出现囊肿,且为多发、双侧或单发且最大直径大于5mm的病例中,无论有无其他异常,均建议孕妇进行羊膜穿刺术或胎盘活检。152例(0.98%)病例存在脉络丛囊肿。产前核型分析检测到4例(2.6%)常染色体三体(3例为18三体,1例为21三体)。所有病例中,脉络丛囊肿是唯一可检测到的产前异常。本研究以及对其他大型研究的综述并不支持孤立性脉络丛囊肿是良性变异的观点,三体风险为82分之一。在获得进一步证据之前,我们建议对妊娠19周及以上的孤立性胎儿脉络丛囊肿病例进行产前核型分析。

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Isolated choroid plexus cysts--the need for routine offer of karyotyping.孤立性脉络丛囊肿——常规提供染色体核型分析的必要性。
Prenat Diagn. 1994 Aug;14(8):663-7. doi: 10.1002/pd.1970140804.
2
The significance of choroid plexus cysts in fetuses at 18-20 weeks. An indication for amniocentesis?18至20周胎儿脉络丛囊肿的意义。羊膜穿刺术的指征?
Prenat Diagn. 1992 Aug;12(8):685-8. doi: 10.1002/pd.1970120809.
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Isolated fetal choroid plexus cysts: not an indication for genetic diagnosis?孤立性胎儿脉络丛囊肿:并非基因诊断的指征?
Fetal Diagn Ther. 1997 Sep-Oct;12(5):255-9. doi: 10.1159/000264480.
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Isolated fetal choroid plexus cysts and karyotype analysis: is it necessary?
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Fetal choroid plexus cysts: a prospective study and review of the literature.胎儿脉络丛囊肿:一项前瞻性研究及文献综述
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Isolated choroid plexus cysts and association with fetal aneuploidy in an unselected population.未经选择人群中孤立性脉络丛囊肿及其与胎儿非整倍体的关联。
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Am J Obstet Gynecol. 1999 Aug;181(2):260-5. doi: 10.1016/s0002-9378(99)70545-4.
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Choroid plexus cysts in the fetal brain.胎儿脑中的脉络丛囊肿。
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Isolated 'soft signs' of fetal choroid plexus cysts or echogenic intracardiac focus - consequences of their continued reporting.孤立的胎儿脉络丛囊肿或心内强回声灶的“软指标”——持续报告的后果。
Australas J Ultrasound Med. 2019 Oct 11;22(4):253-264. doi: 10.1002/ajum.12180. eCollection 2019 Nov.
2
Endoscopic management of a choroid plexus cyst of the third ventricle: case report and documentation of dynamic behavior.第三脑室脉络丛囊肿的内镜治疗:病例报告及动态变化记录
Childs Nerv Syst. 2015 May;31(5):815-9. doi: 10.1007/s00381-015-2649-y. Epub 2015 Feb 26.
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A large choroid plexus cyst diagnosed with magnetic resonance imaging in utero: a case report.
一例经磁共振成像诊断的胎儿巨大脉络丛囊肿:病例报告
Cases J. 2009 Jul 10;2:7098. doi: 10.4076/1757-1626-2-7098.
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Choroid plexus cysts and aneuploidy.脉络丛囊肿与非整倍体
J Med Genet. 1998 Jul;35(7):554-7. doi: 10.1136/jmg.35.7.554.