产前诊断胎儿骨异常

English | 2024 | ISBN-10: 3031393465 | 900 pages| PDF (True) | 143 MB

The main aim of this book is to help obstetricians and gynecologists recognize prenatal skeletal anomalies. Bone dysplasias alone represent about a third of all fetal malformations, some of which have different prognoses ranging from mild disabilities to severe or lethal ones. However, recognizing them prenatally is often difficult or impossible as they usually become apparent in the third trimester or even after birth. The majority of skeletal syndromes are extremely rare, making genetic testing necessary. The book is divided into sections, starting from the skull and ending with the feet, with each chapter discussing anomalies specific to that organ or bone deformation. It's a lengthy journey of 56 chapters that requires a precise and rigorous educational path to diagnose such diseases. However, by following the "Ariadne's thread" represented by the "characteristic sign" and the help of a geneticist, the difficult task becomes feasible

这本书的主要目的是帮助产科医生和妇科医生识别胎儿骨骼异常。单纯骨发育异常占所有胎儿畸形的约三分之一，其中一些疾病的预后范围从轻度残疾到严重的甚至致命的情况不等。然而，在孕期发现这些病变通常困难或不可能，因为它们通常在妊娠晚期才变得明显，甚至是出生后才发现。大多数骨骼综合征极为罕见，需要进行遗传检测。本书分为几个部分，从头骨开始，最后到达脚部，每一章都讨论了特定器官的异常或骨骼畸形。这是一条56章的漫长旅程，需要精确而严格的教育路径来诊断这些疾病。然而，通过遵循由“特征征象”代表的“阿伽门农线”，以及遗传学家的帮助，这项艰巨的任务变得可行。

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