无创性产前检测（NIPT）用于性染色体非整倍体的独特挑战。
Unique Challenges of NIPT for Sex Chromosome Aneuploidy.
机构信息
Harvard Medical School, Brigham and Women's Hospital, Boston, Massachusetts.
Rady Children's Institute for Genomic Medicine, KL2 Scholar Scripps Research Translational Institute, San Diego, California.
出版信息
Clin Obstet Gynecol. 2023 Sep 1;66(3):568-578. doi: 10.1097/GRF.0000000000000804. Epub 2023 Jul 24.
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, 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.
摘要
非侵入性产前检测（NIPT）用于检测性染色体非整倍体（45,X、47,XXY、47,XXX 和 47,XYY）与用于检测常染色体非整倍体（三体 13、18 和 21）有显著差异。作为一个整体，性染色体非整倍体的发生率（1/400）高于任何一种孤立的常染色体非整倍体，表型变异更大，嵌合体的作用更具挑战性，高风险 NIPT 结果的阳性预测值也大大降低。这些考虑因素应在产前咨询时确定，单独提供性染色体检测，并清楚地区分其与常染色体非整倍体 NIPT 的差异。
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