In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy?
Shaozhe Yang, Rongxiang Li, Shuwen Xin, Yanqi He, Shaoxia Teng, Yanan Gao, Xiuhong Fu · 2025
Read In the era of copy number variation sequencing: changes in the target population for prenatal diagnosis and what is the optimal prenatal diagnostic strategy? by Shaozhe Yang, Rongxiang Li, Shuwen Xin, Yanqi He, Shaoxia Teng, Yanan Gao, Xiuhong Fu (2025) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-12753869.txt.
Description
Shaozhe Yang and co-workers study prenatal diagnosis strategy in the era of copy number sequencing, in a 2025 paper. The newer test reads DNA for missing or extra segments and has become a first-line tool. The team asked who now gets prenatal diagnosis and which test mix works best.
They analyzed nearly four thousand pregnancies across three testing groups. Ultrasound findings were the leading reason for testing. The newer test found far more chromosome problems than the classic cell-based test alone. Combining both raised detection further and clarified odd results from each. The authors call the combined approach efficient and fairly cost-effective.
Catalog record
| CREATOR | Shaozhe Yang, Rongxiang Li, Shuwen Xin, Yanqi He, Shaoxia Teng, Yanan Gao, Xiuhong Fu |
|---|---|
| YEAR | 2025 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 49 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |