Comparison of results of prenatal diagnosis by different techniques for fetuses with increased nuchal translucency
扫码查看
点击上方二维码区域，可以放大扫码查看
原文链接
万方数据
目的 探讨染色体微阵列分析(CMA)和家系全外显子组测序(trio-WES)对于颈项透明层(NT)增厚胎儿的诊断价值。 方法 选择2018年6月至2020年6月因妊娠11~13+6周超声筛查提示胎儿NT≥3.0 mm在乌鲁木齐市妇幼保健院就诊的62例孕妇作为研究对象，将其分为NT 3.0 ~ <3.5 mm组( n＝33)和≥3.5 mm组(n＝29)。抽取孕妇的羊水样本，进行染色体核型分析及CMA检测，并对15例CMA检测未见异常的样本进行trio-WES分析。用χ2检验比较2组染色体异常的分布与NT厚度的相关性。 结果 62例产妇的中位年龄为29岁(22~41岁)，胎儿NT的中位厚度为3.4 mm(3.0~9.1 mm)，发现NT异常时的中位胎龄为13+4周(11+5~13+6周)。染色体核型分析共检出12例非整倍体，1例衍生染色体，检出率为20.97%(13/62)。CMA共检出12例非整倍体、1例致病性拷贝数变异(CNV)和5例临床意义不明CNV，检出率为29.03%(18/62)。≥3.5 mm组胎儿的非整倍体检出率高于3.0~<3.5 mm组[3.03%(1/33)vs. 41.38%(12/29)，χ2 ＝ 13.698，P<0.001]。2组胎儿致病和临床意义不明CNV检出率差异无统计学意义(χ2 ＝ 0.028，P>0.05)。对15例CMA未见异常且不伴结构畸形的家系进行trio-WES分析，共发现6种基因变异，包括SOS1: c．3542C>T(p.A1181V)和c.3817C>G(p.L1273V)杂合变异，COL2A1: c．436C>T(p.P146S)和c.3700G>A(p.D1234N)杂合变异，LZTR1: c．1496T>C(p.V499A)和BRAF: c．64G>A(p.D22N)杂合变异。根据美国医学遗传学与基因组学学会相关指南，均评级为临床意义不明。 结论 NT增厚可在一定程度上提示胎儿染色体异常，可利用CMA与trio-WES技术对其进行产前诊断。 Objective To assess the value of chromosomal microarray analysis (CMA) and trio-whole exome sequencing (trio-WES) for fetuses with increased nuchal translucency (NT) thickness. Methods sixty two pregnant women who had visited Urumqi Maternal and Child Care Health Hospital between June 2018 and June 2020 for NT≥3.0 mm at 11~13+ 6 gestational weeks were selected as study subjects. Relevant clinical data were collected. The patients were divided into 3.0~<3.5 mm (n=33) and ≥3.5 mm groups (n=29). Chromosome karyotyping analysis and chromosomal microarray analysis were carried out. And trio-WES analysis was performed on 15 samples with NT thickening but negative CMA results. The distribution and incidence of chromosomal abnormalities in the two groups were compared by using chi-square test. Results The median age of the pregnant women was 29 years old (22~41 years old), the median thickness of NT was 3.4 mm (3.0~9.1 mm), and the median gestational age at the detection was 13+ 4 weeks (11+ 5~13+ 6 weeks). Chromosome karyotyping analysis has detected 12 cases of aneuploidies and 1 case of derivative chromosome. The detection rate was 20.97% (13/62). CMA has detected 12 cases of aneuploidies, 1 case of pathogenic CNV and 5 cases of variant of uncertain significance (VUS), with a detection rate of 29.03% (18/62). The aneuploidy rate for the NT≥3.5 mm group was higher than that for the 3.0≤NT<3.5 mm group [3.03% (1/33)vs. 41.38% (12/29), χ2 = 13.698, P<0.001]. There was no statistically significant difference between the two groups in the detection rate of fetal pathogenic CNV and VUS(χ2 = 0.028, P>0.05). Trio-WES analysis of 15 samples with negative CMA result and no structural abnormality has identified 6 heterozygous variants, includingSOS1: c. 3542C>T (p.A1181V) and c. 3817C>G (p.L1273V),COL2A1: c. 436C>T (p.P146S) and c. 3700G>A (p.D1234N),LZTR1: c. 1496T>C (p.V499A), andBRAF: c. 64G>A (p.D22N), respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were rated as VUS. Conclusion NT thickening can indicate chromosome abnormality, and CMA and trio-WES may be used for the prenatal diagnosis.
Objective To assess the value of chromosomal microarray analysis (CMA) and trio-whole exome sequencing (trio-WES) for fetuses with increased nuchal translucency (NT) thickness. Methods sixty two pregnant women who had visited Urumqi Maternal and Child Care Health Hospital between June 2018 and June 2020 for NT≥3.0 mm at 11~13+ 6 gestational weeks were selected as study subjects. Relevant clinical data were collected. The patients were divided into 3.0~<3.5 mm (n=33) and ≥3.5 mm groups (n=29). Chromosome karyotyping analysis and chromosomal microarray analysis were carried out. And trio-WES analysis was performed on 15 samples with NT thickening but negative CMA results. The distribution and incidence of chromosomal abnormalities in the two groups were compared by using chi-square test. Results The median age of the pregnant women was 29 years old (22~41 years old), the median thickness of NT was 3.4 mm (3.0~9.1 mm), and the median gestational age at the detection was 13+ 4 weeks (11+ 5~13+ 6 weeks). Chromosome karyotyping analysis has detected 12 cases of aneuploidies and 1 case of derivative chromosome. The detection rate was 20.97% (13/62). CMA has detected 12 cases of aneuploidies, 1 case of pathogenic CNV and 5 cases of variant of uncertain significance (VUS), with a detection rate of 29.03% (18/62). The aneuploidy rate for the NT≥3.5 mm group was higher than that for the 3.0≤NT<3.5 mm group [3.03% (1/33)vs. 41.38% (12/29), χ2 = 13.698, P<0.001]. There was no statistically significant difference between the two groups in the detection rate of fetal pathogenic CNV and VUS(χ2 = 0.028, P>0.05). Trio-WES analysis of 15 samples with negative CMA result and no structural abnormality has identified 6 heterozygous variants, includingSOS1: c. 3542C>T (p.A1181V) and c. 3817C>G (p.L1273V),COL2A1: c. 436C>T (p.P146S) and c. 3700G>A (p.D1234N),LZTR1: c. 1496T>C (p.V499A), andBRAF: c. 64G>A (p.D22N), respectively. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all of the variants were rated as VUS. Conclusion NT thickening can indicate chromosome abnormality, and CMA and trio-WES may be used for the prenatal diagnosis.
万方数据
