来自杂志 Clinical Obstetrics & Gynecology 的文献。
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半面阳光
(2024-10-31 17:55):
#paper DOI: 10.1097/GRF.0000000000000804, Clin Obstet Gynecol, 2023, Unique Challenges of NIPT for Sex Chromosome Aneuploidy. 这是一篇综述文章。作者主要围绕NIPT检测性染色体异常时存在的三个难点进行了总结梳理。一是性染色体异常的表型类型较多，二是性染色体异常存在较多的嵌合情况，三是NIPT检测性染色体异常的阳性预测值（PPV）比较低，尤其是跟其他常染色体比较而言。除了这三个检测中的难点之外，作者还探讨了在检测前以及检出性染色体高风险之后，如何进行遗传咨询等内容。性染色体异常的检测是NIPT检测在临床应用中的一个重要方面，同时也是问题较多、情况比较复杂的一个领域。这篇文章的主题很具实际应用性。
Abstract:
Noninvasive prenatal testing (NIPT) for the sex chromosome aneuploidies (45,X, 47,XXY, 47,XXX, and 47,XYY) differs significantly from that for the autosomal aneuploidies (trisomy 13, 18, and 21). As a group, …
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Noninvasive prenatal testing (NIPT) for the sex chromosome aneuploidies (45,X, 47,XXY, 47,XXX, and 47,XYY) differs significantly from that for the autosomal aneuploidies (trisomy 13, 18, and 21). As a group, sex chromosome aneuploidies occur more commonly (1/400) than any one isolated autosomal aneuploidy, the phenotypic variation is greater, the role of mosaicism more challenging, and the positive predictive value of a high-risk NIPT result is substantially lower. These considerations should be identified during pretest counseling, the inclusion of sex chromosome testing offered separately, and the differences from autosomal aneuploidy NIPT clearly delineated.
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