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21 pages, 1764 KiB  
Article
D-karyo—A New Prenatal Rapid Screening Test Detecting Submicroscopic CNVs and Mosaicism
by Osamu Shimokawa, Masayoshi Takeda, Hiroyasu Ohashi, Akemi Shono-Ota, Mami Kumagai, Risa Matsushika, Chika Masuda, Kohtaro Uenishi and Ritsuko Kimata Pooh
Diagnostics 2021, 11(2), 337; https://doi.org/10.3390/diagnostics11020337 - 18 Feb 2021
Cited by 1 | Viewed by 4175
Abstract
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 [...] Read more.
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. Full article
(This article belongs to the Special Issue Advances in Prenatal Diagnostics)
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