Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center study
Shiho Uchida, Yuki Mizuguchi, Suguru Sato, Kou Sueoka, Mamoru Tanaka · 2026
Read Neonatal cytogenetic validation demonstrates high accuracy of single-nucleotide polymorphism-based non-invasive prenatal testing: a 4466-case single-center study by Shiho Uchida, Yuki Mizuguchi, Suguru Sato, Kou Sueoka, Mamoru Tanaka (2026) 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-13503270.txt.
Description
Shiho Uchida and others check single-letter DNA-variant-based outside-body before birth testing against newborn gene checks. In 2026, the single-center study looks at 4,466 high-risk pregnant women tested between 2013 and 2022, backing high-flag results by womb fluid test and low-flag results by after-birth cheek glow test. Most prior rightness guesses relied on pre-birth results alone.
Hit rate reached 94.6 percent for trisomy 13, 100 percent for trisomy 18, and 80.0 percent for trisomy 21, with true-clear rate near 99.9 percent, positive predictive value 89.1 percent, and negative predictive value 99.9 percent. Two false misses, both from low-level mixed cells, show the body limits of cell-free DNA screening and the need for a second check when sound scans look odd.
Catalog record
| CREATOR | Shiho Uchida, Yuki Mizuguchi, Suguru Sato, Kou Sueoka, Mamoru Tanaka |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 37 KB |
| VERSION | 1.0 |
| LICENSE | CC BY 4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |