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首页> 外文期刊>Molecular cytogenetics >Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities
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Cytogenetic analysis of 3387 umbilical cord blood in pregnant women at high risk for chromosomal abnormalities

机译：孕妇染色体异常风险高3387脐脐血的细胞遗传学分析

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Background:Cordocentesis in our practice is most commonly indicated for rapid karyotyping in the second or third trimester and is regarded as the gold standard for foetal chromosomal aberration diagnosis in pregnancies at high risk for chromosomal abnormalities. In this study, we investigated 3387 umbilical cord blood samples for karyotyping from pregnant women who underwent cordocentesis and explored the pregnancy outcomes of foetal sex chromosome mosaicism and chromosomal polymorphism.Results:Out of the 3387 samples, 182 abnormal karyotypes were detected. Ultrasound soft markers were the most common prenatal diagnostic indication, but the detection rate of abnormal karyotypes was 2.02%, while it was 46.97% in the genome-wide NIPT-positive group. The rate of aneuploidy was lower in the soft marker group than in the other groups. Out of 16 cases with sex chromosome mosaicism, three pregnant women with foetuses with a lower proportion of sex chromosome mosaicism delivered healthy foetuses; the foetus with karyotype 46,X,i(Y)(q10)[20]/45,X[6] showed unclear genitals. Three foetuses with chromosomal polymorphisms had postnatal disorders.Conclusions:NIPT should not be recommended as the first-tier screening for chromosomal aberration for pregnancies with ultrasound soft markers or pathological ultrasound findings, but NIPT can be considered an acceptable alternative for pregnancies with contraindications to cordocentesis or the fear of procedure-related foetal loss. Mosaicism found in amniotic fluid cell culture requires further cordocentesis for karyotype confirmation, and the continuation of pregnancy is safe when a normal karyotype is identified in foetal blood culture. Further genetic testing and parental karyotype analysis are needed for foetal chromosomal polymorphisms.? The Author(s). 2020.
机译：背景：我们实践中的肠腔穿孔术是最常见的，用于第二个或第三个三个月的快速核型，并且被认为是染色体异常的高风险妊娠期胎儿染色体畸变诊断的金标准。在这项研究中，我们研究了来自孕妇术后孕妇的3387脐带血样品，用于胸腔穿孔术后，探索胎儿性染色体染色体染色体和染色体多态性的妊娠结果。结果：从3387个样品中，检测到182个异常的核型。超声软标志物是最常见的产前诊断迹象，但异常核型的检出率为2.02％，而基因组侧阳性组是46.97％。软标记物组中的非整倍性速率低于其他组。在16例患有性染色体马赛哲中，三名孕妇患有胎儿比例较低的性染色体马赛族主义递送了健康的胎儿;具有亚型型46，X，I（Y）（Q10）[20] / 45，X [6]的胎儿显示出不明确的生殖器。三个患有染色体多态性的胎儿出生后疾病。结论：不应建议使用超声软标记或病理超声检查的妊娠染色体染色体染色体癌的第一层筛查，但是蛋白可以被认为是肠系膜中禁忌症怀孕的可接受的替代品或担心程序相关的胎儿损失。在羊水细胞培养中发现的马赛克主义需要进一步的肠系膜颈穿孔，核型确认，并且当在胎儿血液培养中鉴定正常的核型时，妊娠的延续是安全的。胎儿染色体多态性需要进一步的遗传测试和父母核型分析。作者。 2020。

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