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异常胎儿脑沟形成：索托斯综合征诊断的线索

Aberrant Fetal Brain Sulcus Formation: A Clue to the Diagnosis of Sotos Syndrome.

作者信息

Luo Caiqun, Liu Yang, Wang Hui, Chen LiYuan, Wu XiaoXia, Geng Qian, Wen Huaxuan, Li Shengli, Wu Weiqing, Zhong Mei

机构信息

Department of Obstetrics and Gynecology, Nanfang Hospital, Southern Medical University, Guangzhou, China.

Maternal Fetal Medicine Center, Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China.

出版信息

Prenat Diagn. 2024 Dec;44(13):1641-1646. doi: 10.1002/pd.6686. Epub 2024 Oct 19.

DOI:10.1002/pd.6686
PMID:39425694
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11628212/
Abstract

OBJECTIVE

This study aims to elucidate two distinct fetal ultrasound features associated with aberrant brain sulcus formation as potential prenatal markers for Sotos syndrome caused by mutations in the NSD1 gene.

METHOD

This retrospective study investigated three fetuses across two pregnancies, including a pair of monochorionic diamniotic twins, all diagnosed with Sotos syndrome via whole exome sequencing (WES). Comprehensive clinical and laboratory data were collected and analyzed. Each fetus underwent a series of specialized neurosonographic assessments to evaluate the development of the cerebral cortex.

RESULTS

All three fetuses exhibited aberrant brain sulcus formation characterized by Sylvian fissure (SF) abnormalities and shallow parietooccipital sulcus (POS). WES revealed the presence of two de novo NSD1 variants in these fetuses.

CONCLUSIONS

Fetal aberrant brain sulcus formation may represent a distinctive ultrasound feature indicative of Sotos syndrome, thereby offering additional diagnostic insights for the identification of this condition.

摘要

目的

本研究旨在阐明与异常脑沟形成相关的两种不同的胎儿超声特征，作为由NSD1基因突变引起的索托斯综合征的潜在产前标志物。

方法

这项回顾性研究调查了两例妊娠中的三个胎儿，包括一对单绒毛膜双羊膜囊双胞胎，所有胎儿均通过全外显子测序（WES）诊断为索托斯综合征。收集并分析了全面的临床和实验室数据。每个胎儿都接受了一系列专门的神经超声评估，以评估大脑皮层的发育情况。

结果

所有三个胎儿均表现出异常脑沟形成，其特征为外侧裂（SF）异常和顶枕沟（POS）变浅。WES显示这些胎儿中存在两个新发的NSD1变异。

结论

胎儿异常脑沟形成可能代表索托斯综合征的一种独特超声特征，从而为该疾病的识别提供更多诊断依据。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24dc/11628212/4da6e6c10944/PD-44-1641-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24dc/11628212/c215da75352c/PD-44-1641-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24dc/11628212/d2aeef47d0ab/PD-44-1641-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24dc/11628212/4da6e6c10944/PD-44-1641-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24dc/11628212/c215da75352c/PD-44-1641-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24dc/11628212/d2aeef47d0ab/PD-44-1641-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/24dc/11628212/4da6e6c10944/PD-44-1641-g001.jpg

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本文引用的文献

1
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Prenat Diagn. 2024 Mar;44(3):360-363. doi: 10.1002/pd.6504. Epub 2023 Dec 27.
2
Sotos syndrome: A study of antenatal presentation.Sotos 综合征：产前表现研究。
Eur J Obstet Gynecol Reprod Biol. 2022 Dec;279:1-4. doi: 10.1016/j.ejogrb.2022.10.006. Epub 2022 Oct 8.
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Abnormal Sylvian fissure at 20-30 weeks as indicator of malformations of cortical development: role of prenatal whole-genome sequencing.
20至30周时大脑外侧裂异常作为皮质发育畸形的指标：产前全基因组测序的作用
Ultrasound Obstet Gynecol. 2022 Apr;59(4):552-555. doi: 10.1002/uog.24771.
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PAUPAR and PAX6 sequentially regulate human embryonic stem cell cortical differentiation.PAUPAR 和 PAX6 依次调控人胚胎干细胞皮质分化。
Nucleic Acids Res. 2021 Feb 26;49(4):1935-1950. doi: 10.1093/nar/gkab030.
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Prenatal diagnosis of Sotos syndrome characterized by fetal growth restriction.以胎儿生长受限为特征的索托斯综合征的产前诊断。
Int J Gynaecol Obstet. 2017 Nov;139(2):248-250. doi: 10.1002/ijgo.12269. Epub 2017 Aug 14.
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[A prenatal ultrasound study of cerebral sulci and gyrus development in fetuses with tetralogy of Fallot].[法洛四联症胎儿脑沟回发育的产前超声研究]
Nan Fang Yi Ke Da Xue Xue Bao. 2017 Jun 20;37(6):721-729. doi: 10.3969/j.issn.1673-4254.2017.06.02.
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Ultrasonographic Characteristics of Cortical Sulcus Development in the Human Fetus between 18 and 41 Weeks of Gestation.孕18至41周胎儿大脑皮质沟发育的超声特征
Chin Med J (Engl). 2017 Apr 20;130(8):920-928. doi: 10.4103/0366-6999.204114.
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Evaluation of Neurodevelopment and Factors Affecting it in Children With Acyanotic Congenital Cardiac Disease.非青紫型先天性心脏病患儿神经发育及其影响因素的评估
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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.序列变异解读的标准与指南：美国医学遗传学与基因组学学会和分子病理学协会的联合共识推荐
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