单纯胎儿脉络丛囊肿产前诊断的必要性

孙玉秀; 唐俊湘; 王朝红; 王亚群; 王森林; 朱健生

doi:10.16766/j.cnki.issn.1674-4152.003076

单纯胎儿脉络丛囊肿产前诊断的必要性

doi: 10.16766/j.cnki.issn.1674-4152.003076

安徽省妇幼保健院遗传中心，安徽合肥 230001

基金项目:

安徽省重点研究与开发计划项目 202004j07020004

详细信息

通讯作者:
朱健生，E-mail: 675795580@qq.com

中图分类号: R714.5 R446
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- PDF下载量: 25
- 被引次数: 0
出版历程
- 收稿日期: 2022-11-05
- 网络出版日期: 2023-08-28

The necessity for a prenatal diagnosis of isolated fetal choroid plexus cyst

Genetic Center, Anhui Province Maternal and Child Health Hospital, Hefei, Anhui 230001, China

摘要

摘要: 目的通过核型分析和染色体微阵列分析等方法，探讨单纯脉络丛囊肿(choroid plexus cyst, CPC) 产前诊断的必要性，为产前咨询提供依据。方法选取2017年1月—2022年1月在安徽省妇幼保健院就诊超声提示胎儿脉络丛囊肿，并经产前咨询后自愿接受羊水穿刺的276例孕妇，行羊水细胞G显带染色体核型分析技术和染色体微阵列分析(chromosomal microarray analysis，CMA)技术，按照是否合并高危因素将所有孕妇分为5组，分析各组脉络丛囊肿染色体异常发病率。结果 276例病例中共检出染色体异常18例。其中单纯脉络丛囊肿105例，染色体异常5例；脉络丛囊肿合并高龄(孕妇>35岁)45例，染色体异常4例；脉络丛囊肿合并血清学筛查高风险84例，染色体异常6例；脉络丛囊肿合并其他超声软指标的35例, 染色体异常2例；复杂性脉络丛囊肿(合并高龄、血清学筛查高风险、其他超声软指标三者中2个以上)7例，染色体异常1例，5组之间比较差异无统计学意义。另外单纯脉络丛囊肿中单侧60例，染色体异常2例；双侧45例，染色体异常3例，2组比较差异也无统计学意义。结论单纯脉络丛囊肿与合并其他高危因素的脉络丛囊肿一样也需要进行产前诊断。
- 单纯脉络丛囊肿 /
- 染色体微阵列分析 /
- 染色体异常
Abstract: Objective Karyotype analysis and chromosomal microarray analysis were used to explore the necessity of prenatal diagnosis of choroid plexus cyst (CPC), to provide a basis for prenatal consultation. Methods A total of 276 pregnant women who were diagnosed as fetal choroid plexus cysts by ultrasound and voluntarily underwent amniotic fluid puncture after prenatal consultation in Anhui Maternal and Child Health Hospital were selected from January 2017 to January 2022. All pregnant women were divided into 5 groups based on whether they incorporate high-risk factors. G-band chromosome karyotype analysis and chromosome microarray analysis (CMA) were performed to analyze the incidence of chromosomal abnormalities in choroid plexus cysts in each group. Results Total 18 cases of chromosomal abnormalities were detected in 276 cases. There were 105 cases of isolated choroid plexus cyst, including 5 cases of chromosomal abnormalities; 45 elderly patients with choroid plexus cyst (the age of pregnant women was older than 35 years old), including 4 cases of chromosomal abnormalities; 84 cases of high risk of choroid plexus cyst combined with serological screening, including 6 cases of chromosomal abnormalities; 35 cases of choroid plexus cyst with other ultrasonic soft indexes, including 2 cases of chromosomal abnormalities; 7 cases of complex choroid plexus cysts (combined with advanced age, high risk of serological screening and other ultrasound soft indicators, more than two of the three), including 1 case of chromosomal abnormalities. There was no significant difference between the 5 groups. In addition, there were 60 cases of unilateral choroid plexus cysts, including 2 cases of chromosomal abnormalities, and 45 bilateral cases, including 3 cases of chromosomal abnormalities, an there were no statistical difference between the two groups. Conclusion Isolated choroid plexus cyst also needs prenatal diagnosis as choroid plexus cyst with other high-risk factors.
- Isolated choroid plexus cyst /
- Chromosome microarray analysis /
- Chromosome abnormality

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表 1 各组脉络丛囊肿胎儿异常核型分析结果

Table 1. Results of fetal abnormal karyotype analysis of choroid plexus cysts in each group

组别	CMA致病性变异	染色体核型异常
单纯脉络丛囊肿	1q21.1-q21.2有1.80 Mb缺失	46, XX
	2q13有1.71 Mb重复	46, XY
	18三体综合征	47, XX+18
	18三体综合征，超雌综合征	48, XXX, +18
	超雄综合征	47, XYY
脉络丛囊肿伴高龄	18三体综合征，超雌综合征	48, XXX, +18
	18三体综合征	47, XX+18
	超雄综合征	47, XYY
	21三体综合征	47, XY+21
脉络丛囊肿伴唐筛异常	Xp22.31，缺失，1.68 Mb	46, XY
	Xp22.31，缺失，1.68 Mb	46, XY
	17q12，缺失，1.46 Mb	46, XY
	18三体综合征	47, XX+18
	18三体综合征	47, XX+18
	21三体综合征	46, XX，der(14;21)(q10;q10), +21
脉络丛囊肿伴超声软指标	21三体综合征	47, XX+21
	21三体综合征	47, XX+21
复杂脉络丛囊肿	21三体综合征	47, XY+21

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表 2 各组脉络膜丛囊肿染色体异常发病情况比较(例)

Table 2. Comparison of the incidence of chromosomal abnormalities in choroid plexus cysts in each group (cases)

组别	总数	染色体异常
单纯脉络丛囊肿	105	5
脉络丛囊肿伴高龄	45	4
脉络丛囊肿伴唐筛异常	84	6
脉络丛囊肿伴超声软指标	35	2
复杂脉络丛囊肿	7	1
合计	276	18
注：染色体异常例数比较，χ²=2.567, P=0.590。

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