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比较正常染色体胎儿和非整倍体胎儿透明隔腔大小。

Comparison of Cavum Septum Pellucidum Size in Euploid and Aneuploid Fetuses.

机构信息

Department of Perinatology, Turkish Ministry of Health Ankara City Hospital, Ankara, Turkey.

Department of Perinatology, Etlik City Hospital, Ankara, Turkey.

出版信息

Rev Bras Ginecol Obstet. 2023 Sep;45(9):e511-e516. doi: 10.1055/s-0043-1775847. Epub 2023 Oct 16.

DOI:10.1055/s-0043-1775847
PMID:37846183
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10579907/
Abstract

OBJECTIVE

The aim of the present study is to compare the cavum septum pellucidi (CSP) z-score in euploid and aneuploid fetuses and to investigate the performance of the CSP width/length and CSP width/biparietal diameter (BPD) ratios as a diagnostic marker in aneuploidy.

METHODS

A total of 54 patients, 20 aneuploid and 35 euploid fetuses, between 18 and 37 weeks of gestation, were included in this retrospective study. The CSP width z-score was compared between the two groups. Receiver operating characteristic (ROC) curves were calculated for the CSP width/length and CSP width/BPD ratios to predict aneuploidy.

RESULTS

The median CSP width was 4.8 mm (range, 1.8 to 8.5 mm) in the euploid group, and 5.4 mm (range 3.1 to 8.4 mm) in the aneuploid group. Cavum septum pellucidi width z-score, CSP width/length ratio, and CSP width/BPD ratio were significantly higher in fetuses with aneuploidy than in fetuses with normal karyotype ( = 0.001;  = 0.013;  = 0.028). In the ROC analysis, the CSP width/length ratio had the optimal cutoff value of 0.59, with 72.0% sensitivity and 58.0% specificity, and for the CSP width/BPD ratio, the cutoff value was 0.081 with 83.0% sensitivity and 61.0% specificity for detection of aneuploidy.

CONCLUSION

CSP width z-score was found to be increased in aneuploid fetuses. The CSP width /BPD ratio can be used as a new marker for predicting aneuploidy.

摘要

目的

本研究旨在比较正常核型和非整倍体胎儿的透明隔腔(CSP)Z 评分,并探讨 CSP 宽度/长度比和 CSP 宽度/双顶径(BPD)比作为非整倍体诊断标志物的性能。

方法

本回顾性研究纳入了 54 例 18 至 37 周妊娠的患者,其中 20 例为非整倍体,35 例为正常核型。比较了两组之间的 CSP 宽度 Z 评分。计算了 CSP 宽度/长度比和 CSP 宽度/BPD 比的受试者工作特征(ROC)曲线,以预测非整倍体。

结果

正常核型组的 CSP 宽度中位数为 4.8mm(范围 1.8 至 8.5mm),非整倍体组为 5.4mm(范围 3.1 至 8.4mm)。CSP 宽度 Z 评分、CSP 宽度/长度比和 CSP 宽度/BPD 比在非整倍体胎儿中明显高于正常核型胎儿(=0.001;=0.013;=0.028)。在 ROC 分析中,CSP 宽度/长度比的最佳截断值为 0.59,灵敏度为 72.0%,特异性为 58.0%,而对于 CSP 宽度/BPD 比,截断值为 0.081,灵敏度为 83.0%,特异性为 61.0%,用于检测非整倍体。

结论

非整倍体胎儿的 CSP 宽度 Z 评分升高。CSP 宽度/BPD 比可用作预测非整倍体的新标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e273/10579907/a1186c478df9/10-1055-s-0043-1775847-i230162-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e273/10579907/776e4a8e900c/10-1055-s-0043-1775847-i230162-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e273/10579907/a1186c478df9/10-1055-s-0043-1775847-i230162-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e273/10579907/776e4a8e900c/10-1055-s-0043-1775847-i230162-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e273/10579907/a1186c478df9/10-1055-s-0043-1775847-i230162-2.jpg

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本文引用的文献

1
Enlarged cavum septi pellucidi Z-scores in fetuses with trisomy 18.18 三体胎儿中透明隔腔 Z 评分增大。
J Matern Fetal Neonatal Med. 2022 Mar;35(5):981-986. doi: 10.1080/14767058.2020.1742321. Epub 2020 Apr 14.
2
The ratio of cavum septi pellucidi width to anteroposterior cerebellar diameter: A novel index as a diagnostic adjunct for prenatal diagnosis of trisomy 18.透明隔腔宽度与小脑前后径之比:一种用于18三体综合征产前诊断的新型辅助诊断指标。
J Obstet Gynaecol Res. 2019 Jul;45(7):1245-1250. doi: 10.1111/jog.13960. Epub 2019 Apr 1.
3
Cavum septi pellucidi (CSP) ratio: a marker for partial agenesis of the fetal corpus callosum.
透明隔腔(CSP)比值:胎儿胼胝体部分发育不全的一个标志物。
Ultrasound Obstet Gynecol. 2017 Sep;50(3):336-341. doi: 10.1002/uog.17409. Epub 2017 Aug 9.
4
Dilated cavum septi pellucidi in fetuses with microdeletion 22q11.22q11微缺失胎儿的透明隔腔增宽
Prenat Diagn. 2016 Oct;36(10):911-915. doi: 10.1002/pd.4911. Epub 2016 Aug 30.
5
First-trimester screening for trisomies 18 and 13, triploidy and Turner syndrome by detailed early anomaly scan.通过详细的早期异常扫描进行孕早期18三体、13三体、三倍体和特纳综合征的筛查。
Ultrasound Obstet Gynecol. 2016 Oct;48(4):446-451. doi: 10.1002/uog.15829.
6
[Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy].[13、18和21号染色体三体胎儿中先天性异常的患病率]
Rev Bras Ginecol Obstet. 2015 Jul;37(7):333-8. doi: 10.1590/S0100-720320150005373.
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Abnormal shape of the cavum septi pellucidi: an indirect sign of partial agenesis of the corpus callosum.透明隔腔形态异常:胼胝体部分发育不全的间接征象。
Ultrasound Obstet Gynecol. 2015 Nov;46(5):595-9. doi: 10.1002/uog.14776.
8
From cavum septi pellucidi to anterior complex: how to improve detection of midline cerebral abnormalities.从透明隔腔到前联合复合体:如何提高中线脑异常的检测
Ultrasound Obstet Gynecol. 2013 Oct;42(4):485-6. doi: 10.1002/uog.12505. Epub 2013 Sep 3.
9
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Ultrasound Obstet Gynecol. 2013 Aug;42(2):156-60. doi: 10.1002/uog.12393.
10
Fetal neurosonography: extended examination of the CNS in the fetus.胎儿神经超声检查:对胎儿中枢神经系统的扩展检查。
Ultraschall Med. 2011 Aug;32(4):342-61. doi: 10.1055/s-0031-1273463. Epub 2011 Aug 1.