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Peters-Plus综合征的产前诊断:一个病例报告

Marina Fortún Agud¹, Susana Monís Rodríguez^1,2,3, Isidoro Narbona Arias^1,2,3

¹Obstetrics and Gynecology Department, Hospital Materno-Infantil, Hospital Regional Universitario Malaga, Avenida Arroyo de los Angeles S/N, 29011 Malaga, Spain.

Life (Basel, Switzerland)

|January 28, 2026

概括

在双胞胎中使用先进的遗传检测实现了彼得斯-普拉斯综合征的产前诊断. 这种罕见的遗传性疾病是由B3GLCT基因变异引起的,具有多系统参与和具有挑战性的产前识别.

科学领域:

医学遗传学医学遗传学
产前诊断在产前诊断
罕见疾病罕见疾病

背景情况:

彼得斯-普拉斯综合征是一种罕见的自体逆向性疾病,具有多系统性影响.
产前诊断是困难的,因为胎儿发现的变化和缺乏特定的超声波标志物.
报告的病例不到100例,产前诊断有限.

研究的目的:

报告在双胞胎怀孕中对彼得斯-普拉斯综合征的产前诊断病例.
突出先进基因测试在诊断罕见的产前疾病的实用性.
强调在产前查期间认识到暗示性多系统性发现的重要性.

主要方法:

对胎儿异常进行了监测,对单胞胎双胞胎妊娠进行了监测.
进行了标准的细胞遗传和染色体微阵列分析.
产前外体序列测序被用来进行遗传确认.

主要成果:

逐步识别子宫内生长限制,根茎肢体缩短,面形,以及中枢神经系统异常.
标准细胞遗传学和染色体微阵列分析的正常结果.
在B3GLCT中通过外体序列测序在两个胎儿中发现的同卵性致病性拼接部位变异 (c.660+1G>A),证实了彼得斯-普拉斯综合征.

结论:

暗示性的多系统性产前发现需要全面的遗传评估.
先进的基因测试,如外体序列测试,对于准确的产前诊断罕见疾病,如彼得斯-Plus综合征至关重要.
早期的分子确认促进了父母对预后,复发风险和生殖选择的知情咨询.

关键词:

这就是B3GLCT基因.这就是彼得的异常.皮特斯-加症综合征 (Peter-plus综合征) 是一种前腔的RYE缺陷在前腔RYE缺陷甲状动的情况是brachydactyly.角膜不透明性角膜不透明性

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