唐氏筛查：一本实用指南

English | February 20, 2024 | ISBN-10: 9819977576 | 379 pages| PDF (True) | 12 MB

The book elucidates a practical method for prenatal screening and detecting Down syndrome in a simple and easy-to-understand language. It provides thorough knowledge on the subject, and each chapter covers a specific topic, making this book an essential quick-reference guide for every antenatal clinic. The book contains chapters on maternal serum screening, noninvasive prenatal testing (NIPT), invasive testing with amniocentesis and CVS, and screening in twins. It also includes advanced chapters on multi-step screening protocols, uncommon aneuploidies, screening for preeclampsia, and open neural tube defects for clinicians interested in fetal medicine. Down syndrome is the most typical genetic condition affecting over 5 million individuals globally. Rapid advances in the medical field make it possible to identify most of these babies before birth. Hence, aneuploidy screening is now offered to pregnant women worldwide. The book aims to help obstetricians and gynecologists diagnose Down syndrome and other aneuploidies in pregnancy, avoid unnecessary testing, and remain safely within medico-legal boundaries. It is also helpful for fetal medicine students. The book helps the readers address challenging clinical scenarios and confusing test results.

这本书用简单易懂的语言阐述了进行产前筛查和检测唐氏综合症的实用方法。它提供了详尽的知识，每一章节都涵盖了特定的主题，使本书成为每位产前诊所不可或缺的快速参考指南。书中包含关于母体血液筛查、无创性产前测试（NIPT）、通过羊膜穿刺和CVS进行的侵入性检查以及双胞胎筛查的章节。此外，还包含了针对多步筛查协议、罕见染色体异常、妊娠期高血压筛查以及开放型脊柱裂等临床问题的高级章节。唐氏综合症是最常见的全球遗传疾病之一，影响着超过500万人。医学领域的快速进步使得能够在出生前识别大多数此类婴儿成为可能。因此，目前全世界都提供针对孕妇的染色体异常筛查服务。这本书旨在帮助妇产科医生和妇科医生在怀孕时诊断唐氏综合症和其他染色体异常，并避免不必要的检查，同时确保其行为符合医德法律界限。此外，对于感兴趣的胎儿医学学生也非常有用。该书有助于读者解决复杂的临床情景及令人困惑的检测结果。

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