Efficiency of Chromosome Microarray Analysis Combined with Karyotyping in Fetuses with Abnormal Down Syndrome Screening Results.

IF 0.6 4区医学 Q4 PATHOLOGY

Fetal and Pediatric Pathology Pub Date : 2025-05-01 Epub Date: 2025-04-22 DOI:10.1080/15513815.2025.2493725

Huiling Zheng, Zhi Huang, Yuquan Li, Kaize Ding, Tian Tian

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引用次数: 0

Abstract

Objective: We aimed to explore the value of chromosome microarray analysis (CMA) and karyotyping in fetuses with a high risk for Down syndrome (DS) by serological screening and prenatal cell-free DNA(cfDNA) screening in Southwest China.

Methods: We performed CMA and karyotype in 3028 pregnant women at high risk of DS.

Results: Among 2,830 individuals identified as high-risk through serological screening for DS, 280 (9.89%) returned positive results. Subsequent karyotyping confirmed 51 cases of DS, 13 cases of sex chromosome aneuploidy, and 11 cases of trisomy 18. Moreover, CMA revealed 45 cases of pathogenic/likely pathogenic copy number -variations (p/lpCNVs), 128 cases of uncertain significance(VOUS), and 32 cases of regions of homozygosity(ROH), with a 13.04% (205/280) increase in CMA yield compared to the karyotype analysis. Among 227 who had a high risk of prenatal cfDNA screening for DS, 181 (79.74%) exhibited positive results, including 179 cases with DS.

Conclusion: Serological screening cannot be replaced by prenatal cfDNA screening. CMA, combined with karyotyping, has a high diagnostic value for DS and should be promoted.

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染色体微阵列分析结合核型分析对异常唐氏综合征胎儿筛查结果的有效性。

目的：探讨染色体微阵列分析（CMA）和染色体核型在西南地区唐氏综合征（DS）高危胎儿血清学筛查和产前无细胞DNA（cfDNA）筛查中的应用价值。方法：对3028例妊娠DS高危孕妇进行CMA和核型分析。结果：在2830名通过血清学筛查确定为DS高危人群中，280人（9.89%）返回阳性结果。随后的核型分析证实51例DS， 13例性染色体非整倍体，11例18三体。此外，CMA发现45例致病性/可能致病性拷贝数变异（p/lpCNVs）， 128例不确定显著性（VOUS）和32例纯合区（ROH），与核型分析相比，CMA产量增加了13.04%（205/280）。227例DS产前cfDNA筛查高危人群中，181例（79.74%）阳性，其中DS 179例。结论：血清学筛查不能代替产前cfDNA筛查。CMA结合核型分析对DS有较高的诊断价值，值得推广。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Fetal and Pediatric Pathology 医学-病理学

CiteScore

3.00

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports. The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.