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

IF 2.7 2区医学 Q2 GENETICS & HEREDITY Prenatal Diagnosis Pub Date : 2024-12-01 Epub Date: 2024-10-19 DOI:10.1002/pd.6686

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

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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.

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胎儿脑沟形成异常：诊断索托斯综合征的线索

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记物：这项回顾性研究调查了两胎中的三个胎儿，包括一对单绒毛膜双羊膜腔妊娠双胞胎，他们均通过全外显子组测序（WES）确诊为索托斯综合征。研究人员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影像学评估，以评估大脑皮层的发育情况：结果：所有三个胎儿的脑沟形成均异常，表现为西尔维窝（Sylvian fissure, SF）异常和顶枕沟（parietooccipital sulcus, POS）变浅。WES发现这些胎儿存在两个新的NSD1变异：结论：胎儿异常脑沟的形成可能是索托斯综合征的一个显著超声特征，从而为该病的诊断提供了新的见解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Prenatal Diagnosis 医学-妇产科学

CiteScore

5.80

自引率

13.30%

发文量

204

审稿时长

2 months

期刊介绍： Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling