关键词: Chromosomal microarray analysis Copy number variations Pregnancy outcomes Prenatal diagnosis

Mesh : Humans Pregnancy Female Chromosome Aberrations Adult Prenatal Diagnosis / methods Pregnancy Outcome Microarray Analysis / methods DNA Copy Number Variations Chromosome Disorders / diagnosis genetics China / epidemiology Fetus Pregnancy, High-Risk Maternal Age

来  源:   DOI:10.1038/s41598-024-67123-5   PDF(Pubmed)

Abstract:
With the gradual liberalization of the three-child policy and the development of assisted reproductive technology in China, the number of women with high-risk pregnancies is gradually increasing. In this study, 4211 fetuses who underwent chromosomal microarray analysis (CMA) with high-risk prenatal indications were analysed. The results showed that the overall prenatal detection rate of CMA was 11.4% (480/4211), with detection rates of 5.82% (245/4211) for abnormal chromosome numbers and 5.58% (235/4211) for copy number variants. Additionally, the detection rates of clinically significant copy number variants were 3.78% (159/4211) and 1.8% (76/4211) for variants of uncertain significance. The detection rates of fetal chromosomal abnormalities were 6.42% (30/467) for pregnant women with advanced maternal age (AMA), 6.01% (50/832) for high-risk maternal serum screening (MSS) results, 39.09% (224/573) with abnormal non-invasive prenatal testing (NIPT) results, 9.21% (127/1379) with abnormal ultrasound results, and 5.1% (49/960) for other indications. Follow-up results were available for 4211 patients, including 3677 (3677/4211, 87.32%) whose infants were normal after birth, 462 (462/4211, 10.97%) who terminated their pregnancy, 51 (51/4211, 1.21%) whose infants were abnormal after birth, and 21 (21/4211, 0.50%) who refused follow-up. The results of this study demonstrate significant variation in the diagnostic rate of chromosomal microarray analysis across different indications, providing valuable guidance for clinicians to assess the applicability of CMA technology in prenatal diagnosis.
摘要:
随着我国三孩政策的逐步放开和辅助生殖技术的发展,高危孕妇的数量正在逐渐增加。在这项研究中,分析了4211例接受染色体微阵列分析(CMA)并具有高危产前指征的胎儿。结果显示,CMA的产前总检出率为11.4%(480/4211),染色体异常数检出率为5.82%(245/4211),拷贝数变异检出率为5.58%(235/4211)。此外,临床显著拷贝数变异的检出率分别为3.78%(159/4211)和不确定显著性变异的1.8%(76/4211).高龄孕妇(AMA)胎儿染色体异常检出率为6.42%(30/467),6.01%(50/832)为高危孕产妇血清筛查(MSS)结果,39.09%(224/573)的非侵入性产前检测(NIPT)结果异常,9.21%(127/1379)的超声检查结果异常,其他适应症为5.1%(49/960)。4211名患者获得了随访结果,其中3677名(3677/4211,87.32%)婴儿出生后正常,462名(462/4211,10.97%)终止妊娠,51例(51/4211,1.21%)婴儿出生后异常,21名(21/4211,0.50%)拒绝随访。这项研究的结果表明,不同适应症的染色体微阵列分析的诊断率存在显着差异,为临床医生评估CMA技术在产前诊断中的适用性提供有价值的指导。
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