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首页> 外文期刊>BMC Medical Genomics >Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers
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Evaluation of chromosomal abnormalities and copy number variations in fetuses with ultrasonic soft markers

机译：超声波柔软标记的染色体异常评价和胎儿拷贝数变化

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Some ultrasonic soft markers can be found during ultrasound examination. However, the etiology of the fetuses with ultrasonic soft markers is still unknown. This study aimed to evaluate the genetic etiology and clinical value of chromosomal abnormalities and copy number variations (CNVs) in fetuses with ultrasonic soft markers. Among 1131 fetuses, 729 had single ultrasonic soft marker, 322 had two ultrasonic soft markers, and 80 had three or more ultrasonic soft markers. All fetuses underwent conventional karyotyping, followed by single nucleotide polymorphism (SNP) array analysis. Among 1131 fetuses with ultrasonic soft markers, 46 had chromosomal abnormalities. In addition to the 46 fetuses with chromosomal abnormalities consistent with the results of the karyotyping analysis, the SNP array identified additional 6.1% (69/1131) abnormal CNVs. The rate of abnormal CNVs in fetuses with ultrasonic soft marker, two ultrasonic soft markers, three or more ultrasonic soft markers were 6.2%, 6.2%, and 5.0%, respectively. No significant difference was found in the rate of abnormal CNVs among the groups. Genetic abnormalities affect obstetrical outcomes. The SNP array can fully complement conventional karyotyping in fetuses with ultrasonic soft markers, improve detection rate of chromosomal abnormalities, and affect pregnancy outcomes.
机译：在超声检查期间，可以找到一些超声波软标记物。然而，具有超声波软标记物的胎儿的病因仍然未知。本研究旨在评估染色体异常的遗传病因和临床价值，母体异常和拷贝数变异（CNVS）与超声波软标记物。在1131胎儿中，729个具有单一超声波软标记，322个具有两个超声波软标记，80个具有三个或更多的超声波软标记。所有胎儿均接受常规核型型，其次是单核苷酸多态性（SNP）阵列分析。在具有超声波柔软标记物的1131胎儿中，46例具有染色体异常。除了46胎儿具有染色体异常的胎儿外异常，SNP阵列还鉴定了另外的6.1％（69/1131）CNV。具有超声波软标记的胎儿异常CNV率，两个超声波软标记，三个或更多的超声波软标记物分别为6.2％，6.2％和5.0％。在组中的异常CNV速率下没有发现显着差异。遗传异常会影响产科结果。 SNP阵列可以通过超声波软标记物完全补充常规核型术，提高染色体异常的检测率，并影响妊娠结果。

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