目的:本研究的目的是探讨过去10年产前诊断中检测到的非镶嵌性染色体异常的频率和特征。
方法:我们使用核型分析和/或单核苷酸多态性(SNP)阵列,回顾性回顾了2012年1月至2021年12月间诊断为非镶嵌性染色体异常的妊娠。产妇年龄,测试适应症,并记录结果。
结果:传统的核型分析在29,832例胎儿中发现了269例(0.90%)非镶嵌性染色体异常,包括249例数字异常,15个不平衡的结构异常,和5个平衡结构异常。共同性染色体非整倍体(SCAs)的总检出率为0.81%,47,XXY,47,XXX,47,XYY,45,X占0.32,分别为0.19、0.17、0.13%。在研究期间,所有这些都显示出波动的上升趋势,除了45,X.在前五年(2012-2016年),检测的主要指征是高龄产妇(AMA),然后是异常的超声波,非侵入性产前异常检测(NIPT),和异常母体血清筛查(MSS)。在第二个五年(2017-2021年),最常见的指征是NIPT异常,其次是AMA,异常超声,和异常的MSS。在并行进行SNP阵列的7780例病例中,另外检测到29个临床上显著的畸变.最常见的畸变是Xp22.31区域的微缺失,与X连锁鱼鳞病有关。
结论:胎儿性染色体异常是产前诊断的重要发现。NIPT和SNP阵列技术的应用大大提高了SCAs和与性染色体相关的亚显微像差的检测。
OBJECTIVE: The aim of this study was to explore the frequency and profile of non-mosaic sex chromosome abnormalities detected in prenatal diagnosis over the past 10 years.
METHODS: We retrospectively reviewed pregnancies diagnosed with non-mosaic sex chromosome abnormalities between January 2012 and December 2021, using karyotyping and/or single nucleotide polymorphism (SNP) array. Maternal age, indications for testing, and outcomes were recorded.
RESULTS: Traditional karyotyping identified 269 (0.90 %) cases of non-mosaic sex chromosome abnormalities among 29,832 fetuses, including 249 cases of numerical abnormalities, 15 unbalanced structural abnormalities, and 5 balanced structural abnormalities. The overall detection rate of common sex chromosome aneuploidies (SCAs) was 0.81 %, with 47,XXY, 47,XXX, 47,XYY, and 45,X accounting for 0.32 , 0.19, 0.17, and 0.13 % respectively. All showed a fluctuating upward trend over the study period, except for 45,X. During the first five years (2012-2016), the major indication for testing was advanced maternal age (AMA), followed by abnormal ultrasound, abnormal noninvasive prenatal testing (NIPT), and abnormal maternal serum screening (MSS). In the second five years (2017-2021), the most frequent indication was abnormal NIPT, followed by AMA, abnormal ultrasound, and abnormal MSS. Among the 7,780 cases that underwent SNP array in parallel, an additional 29 clinically significant aberrations were detected. The most frequent aberration was a microdeletion in the Xp22.31 region, which was associated with X-linked ichthyosis.
CONCLUSIONS: Fetal sex chromosome abnormalities are important findings in prenatal diagnosis. The application of NIPT and SNP array technology has greatly improved the detection of SCAs and submicroscopic aberrations associated with sex chromosomes.