11 ~ 14周胎儿超声表型异常与遗传相关性研究进展

Research advances in correlation between ultrasound phenotypic abnormalities and genetics in fetuses at 11-14 weeks

  • 摘要: 胎儿先天异常多由遗传因素和遗传-环境相互作用引起,与不良妊娠结局密切相关。因此,孕11 ~ 14周的胎儿超声筛查至关重要。随着超声技术的进步,这一时期可以检测出多种超声表型异常,为早期诊断和干预提供了科学依据。本文综述了11 ~ 14周胎儿超声表型异常与遗传相关性的最新研究进展,涵盖了淋巴系统、面部特征、神经系统、心血管系统、腹部结构和骨骼系统等。这些发现对于提升产前诊断的精确度至关重要,并且可为遗传咨询和临床管理提供指导,有助于改善胎儿及孕妇的健康预后。

     

    Abstract: Fetal congenital abnormalities are often caused by genetic factors and the interaction between genetics and the environment, and they are closely related to adverse pregnancy outcomes. Therefore, fetal ultrasound screening between 11 and 14 weeks of gestation is crucial. With the advancement of ultrasound technology, various ultrasound phenotype abnormalities can be detected during this period, providing a scientific basis for early diagnosis and intervention. This article reviews the latest research progress on the correlation between fetal ultrasound phenotype abnormalities and genetics from 11 to 14 weeks of gestation, covering multiple aspects including the lymphatic system, facial features, nervous system, cardiovascular system, abdominal structures, and skeletal system. These findings are essential for enhancing the accuracy of prenatal diagnosis and can provide guidance for genetic counseling and clinical management, which can improve the health prognosis for both the fetus and the pregnant woman.

     

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