D-karyo-A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism.
D-karyo-A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism.
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D-Karyo-A新的产前快速筛查测试检测亚显微CNV和镶嵌性。
DOI：
10.3390/diagnostics11020337
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发表时间：
2021-02-18
期刊：
影响因子：
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通讯作者：
Kimata Pooh R
中科院分区：
文献类型：
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作者：
Shimokawa O;Takeda M;Ohashi H;Shono-Ota A;Kumagai M;Matsushika R;Masuda C;Uenishi K;Kimata Pooh R
染色体微阵列分析（CMA），最近推出的常规细胞遗传学技术，可以检测亚显微镜下的拷贝数变异（CNVs）的情况下，以前诊断为“细胞遗传学良性”。目前，产前诊断需要快速准确的染色体分析，但产前CMA由于价格高、周转时间长而没有得到广泛应用。我们介绍了一种新的产前筛查方法，称为数字核型分析（D-karyo），它利用植入前非整倍体遗传学检测（PGT-A）平台。首先，我们进行了一个初步的实验，比较原始的PGT-A方法，我们的修改后的方法。基于初步结果，我们决定实施不进行全基因组扩增（WGA）的改良策略，并将其与三个分析软件包相结合。接下来，我们对824个样本进行了前瞻性研究。根据有创性检查的指征，在NT ≥ 3.5mm的筛查阳性组和超声诊断胎儿畸形组中，D核阳性率分别为2.5%和5.0%。D-karyo是一种突破性的方法，可以在10.5 h内以低成本准确检测24个样品的亚显微CNV ≥ 1.0 Mb。实施D-核作为产前快速筛查试验将减少不必要的CMA，并实现比G显带更准确的产前基因检测。
Chromosomal microarray analysis (CMA), recently introduced following conventional cytogenetic technology, can detect submicroscopic copy-number variations (CNVs) in cases previously diagnosed as “cytogenetically benign”. At present, rapid and accurate chromosomal analysis is required in prenatal diagnostics, but prenatal CMA is not widely used due to its high price and long turnaround time. We introduced a new prenatal screening method named digital karyotyping (D-karyo), which utilizes a preimplantation genetic test for the aneuploidy (PGT-A) platform. First, we conducted a preliminary experiment to compare the original PGT-A method to our modified method. Based on the preliminary results, we decided to implement the modified strategy without whole-genome amplification (WGA) and combined it with three analytical software packages. Next, we conducted a prospective study with 824 samples. According to the indication for invasive tests, the D-karyo positive rates were 2.5% and 5.0%, respectively, in the screening positive group with NT ≥ 3.5 mm and the group with fetal abnormalities by ultrasound. D-karyo is a breakthrough modality that can detect submicroscopic CNVs ≥ 1.0 Mb accurately in only 10.5 h for 24 samples at a low cost. Implementing D-karyo as a prenatal rapid screening test will reduce unnecessary CMA and achieve more accurate prenatal genetic testing than G-banding.
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影响因子：
64.8
作者：
Navin N;Kendall J;Troge J;Andrews P;Rodgers L;McIndoo J;Cook K;Stepansky A;Levy D;Esposito D;Muthuswamy L;Krasnitz A;McCombie WR;Hicks J;Wigler M
通讯作者：
Wigler M
影响因子：
6.1
作者：
Alfarawati, S.;Fragouli, E.;Wells, D.
通讯作者：
Wells, D.
影响因子：
9.8
作者：
Fromer, Menachem;Moran, Jennifer L.;Purcell, Shaun M.
通讯作者：
Purcell, Shaun M.
影响因子：
6.7
作者：
Gutierrez-Mateo, Cristina;Colls, Pere;Munne, Santiago
通讯作者：
Munne, Santiago
影响因子：
7.2
作者：
通讯作者：
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