Integration of molecular diagnostics and karyotyping for enhanced detection of chromosomal abnormalities in fetuses.
作者信息
Sun Shiyu, Liu Caiyu, Lan Xinqiang, Tang Yi
机构信息
Department of Medical Genetics, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital), China.
Department of Ultrasonography, The Affiliated Weihai Second Municipal Hospital of Qingdao University (Weihai Maternity and Child Care Hospital), China.
出版信息
Arch Med Sci. 2025 Jun 25;21(3):1062-1068. doi: 10.5114/aoms/205110. eCollection 2025.
Abstract
摘要
相似文献
1
Integration of molecular diagnostics and karyotyping for enhanced detection of chromosomal abnormalities in fetuses.整合分子诊断与核型分析以增强胎儿染色体异常的检测
Arch Med Sci. 2025 Jun 25;21(3):1062-1068. doi: 10.5114/aoms/205110. eCollection 2025.
2
[Prenatal diagnosis and analysis of fetuses with false-positive NIPT results caused by sex chromosomal abnormalities in pregnant women].[孕妇性染色体异常导致无创产前基因检测结果假阳性胎儿的产前诊断与分析]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025 May 10;42(5):525-531. doi: 10.3760/cma.j.cn511374-20250127-00053.
3
Prenatal diagnosis and genetic assessment of fetuses with single umbilical artery using chromosomal microarray analysis: a seven-year single-center retrospective study.使用染色体微阵列分析对单脐动脉胎儿进行产前诊断和遗传评估：一项为期七年的单中心回顾性研究。
BMC Pregnancy Childbirth. 2025 Jul 19;25(1):776. doi: 10.1186/s12884-025-07886-5.
4
[Genetic analysis of two fetuses with Mosaic variegated aneuploidy syndrome caused by compound heterozygous variants in BUB1B and its upstream regulatory elements and a literature Review].[由BUB1B及其上游调控元件的复合杂合变异导致的两例镶嵌型杂色非整倍体综合征胎儿的基因分析及文献综述]
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2025 Apr 10;42(4):446-453. doi: 10.3760/cma.j.cn511374-20240716-00393.
5
Karyotype versus genomic hybridization for the prenatal diagnosis of chromosomal abnormalities: a metaanalysis.核型分析与基因组杂交技术在产前诊断染色体异常中的比较：一项荟萃分析。
Am J Obstet Gynecol. 2015 Mar;212(3):330.e1-10. doi: 10.1016/j.ajog.2014.10.011. Epub 2014 Oct 18.
6
Prenatal diagnosis and genetic analysis: rare familial chromosomal duplications larger than 5 Mb without disease phenotypes.产前诊断与基因分析：大于5 Mb的无疾病表型的罕见家族性染色体重复
Pediatr Res. 2024 Nov 11. doi: 10.1038/s41390-024-03688-1.
7
Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis.使用产前染色体微阵列：前瞻性队列研究及系统评价和荟萃分析。
Ultrasound Obstet Gynecol. 2013 Jun;41(6):610-20. doi: 10.1002/uog.12464. Epub 2013 May 7.
8
Application of chromosome microarray analysis and karyotyping in fetal cardiac abnormalities.染色体微阵列分析和核型分析在胎儿心脏异常中的应用。
Front Genet. 2025 Jun 25;16:1611388. doi: 10.3389/fgene.2025.1611388. eCollection 2025.
9
Unexpected Findings of Duchenne Muscular Dystrophy in Prenatal Screening of Chromosome Abnormality Based on Cell-Free Fetal DNA.基于游离胎儿DNA的染色体异常产前筛查中杜氏肌营养不良症的意外发现
Am J Perinatol. 2025 Jul;42(9):1135-1140. doi: 10.1055/a-2459-8924. Epub 2024 Nov 4.
10
Additional information from chromosomal microarray analysis (CMA) over conventional karyotyping when diagnosing chromosomal abnormalities in miscarriage: a systematic review and meta-analysis.当在流产中诊断染色体异常时，常规核型分析（conventional karyotyping）之外的染色体微阵列分析（chromosomal microarray analysis，CMA）提供的额外信息：系统评价和荟萃分析。
BJOG. 2014 Jan;121(1):11-21. doi: 10.1111/1471-0528.12382. Epub 2013 Jul 17.
本文引用的文献
1
Extended application of BACs-on-Beads technique in prenatal diagnosis.BACs-on-Beads技术在产前诊断中的扩展应用。
Arch Med Sci. 2022 Dec 9;19(1):250-257. doi: 10.5114/aoms/155981. eCollection 2023.
2
Abnormal chromosomes identification using chromosomal microarray.使用染色体微阵列进行染色体异常鉴定。
J Obstet Gynaecol. 2022 Aug;42(6):2025-2032. doi: 10.1080/01443615.2022.2074786. Epub 2022 Jun 4.
3
Combined diagnosis of QF-PCR and CNV-Seq in fetal chromosomal abnormalities: A new perspective on prenatal diagnosis.QF-PCR 和 CNV-Seq 联合诊断胎儿染色体异常：产前诊断的新视角。
J Clin Lab Anal. 2022 Apr;36(4):e24311. doi: 10.1002/jcla.24311. Epub 2022 Feb 23.
4
Coexistence of a Homozygous Chromosome 4q35.2 Deletion and Hidden IQSEC2 Pathogenic Variant in a Child with Intellectual Disability.一个患有智力障碍的儿童同时存在 4q35.2 号染色体纯合缺失和隐藏的 IQSEC2 致病性变异。
Cytogenet Genome Res. 2021;161(3-4):153-159. doi: 10.1159/000515368. Epub 2021 Jul 6.
5
16p11.2 deletion syndrome.16p11.2 缺失综合征。
Curr Opin Genet Dev. 2021 Jun;68:49-56. doi: 10.1016/j.gde.2021.01.011. Epub 2021 Mar 2.
6
The difference between karyotype analysis and chromosome microarray for mosaicism of aneuploid chromosomes in prenatal diagnosis.在产前诊断中，非整倍体染色体嵌合体的核型分析与染色体微阵列分析的差异。
J Clin Lab Anal. 2020 Dec;34(12):e23514. doi: 10.1002/jcla.23514. Epub 2020 Aug 30.
7
Medical and neurobehavioural phenotypes in male and female carriers of Xp22.31 duplications in the UK Biobank.英国生物库中 Xp22.31 重复的男性和女性携带者的医学和神经行为表型。
Hum Mol Genet. 2020 Oct 10;29(17):2872-2881. doi: 10.1093/hmg/ddaa174.
8
Disorders Associated With Diverse, Recurrent Deletions and Duplications at 1q21.1.与1q21.1区域多种复发性缺失和重复相关的疾病
Front Genet. 2020 Jun 23;11:577. doi: 10.3389/fgene.2020.00577. eCollection 2020.
9
Noninvasive Prenatal Testing for Trisomies 21, 18, and 13, Sex Chromosome Aneuploidies, and Microdeletions in Average-Risk Pregnancies: A Cost-Effectiveness Analysis.非侵入性产前检测在平均风险妊娠中用于检测 21 三体、18 三体、13 三体、性染色体非整倍体和微缺失：成本效益分析。
J Obstet Gynaecol Can. 2020 Jun;42(6):740-749.e12. doi: 10.1016/j.jogc.2019.12.007. Epub 2020 Jan 31.
10
Genotypic and phenotypic variability of 22q11.2 microduplications: An institutional experience.22q11.2 微重复的基因型和表型变异性：机构经验。
Am J Med Genet A. 2019 Nov;179(11):2178-2189. doi: 10.1002/ajmg.a.61345. Epub 2019 Sep 3.
Zotero 插件