Unique Challenges of NIPT for Sex Chromosome Aneuploidy.
Unique Challenges of NIPT for Sex Chromosome Aneuploidy.
复制标题
性染色体非整倍体 NIPT 的独特挑战。
DOI：
10.1097/grf.0000000000000804
复制
发表时间：
2023
影响因子：
1.5
通讯作者：
Reimers,Rebecca
中科院分区：
文献类型：
--
作者：
Wilkins-Haug,Louise;Reimers,Rebecca
性染色体非整倍性（45，X，47，XXY，47，XXX和47，XYY）的无创产前检测（NIPT）与常染色体非整倍性（13，18和21三体）的检测显著不同。作为一个群体，性染色体非整倍性比任何一种孤立的常染色体非整倍性更常见（1/400），表型变异更大，嵌合体的作用更具挑战性，高风险NIPT结果的阳性预测值显著降低。这些注意事项应在预测试咨询中确定，包括单独提供的性染色体检测，并明确描述与常染色体非整倍体NIPT的差异。
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.