Incomplete Trisomy Rescue Reveals the Mechanism Underlying Discordance Between Noninvasive Prenatal Screening and Prenatal Diagnosis
We have quantitatively verified for the first time a combination of trisomy 16 mosaicism and maternal segmental UPD 16 due to incomplete trisomy rescue, illuminating the cause of the mismatch between positive NIPS and negative prenatal diagnoses.
Authors
- Z W Chen (ORCID: https://orcid.org/0000-0002-9757-585X)
- Hongchao Wang (ORCID: https://orcid.org/0000-0001-7148-7555)
- Yong Zhou (ORCID: https://orcid.org/0000-0002-4099-8077)
- Weiwei Zang
- Yanan Wang (ORCID: https://orcid.org/0000-0002-8754-3221)
- Yuqiong Chai
- Qianqian Tan (ORCID: https://orcid.org/0009-0009-6364-7796)
- Fan Yin
Institutions
- Wuhan YZY Biopharma (China) (CN)
- Luoyang Institute of Science and Technology (CN)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2025-03-01
- DOI
- https://doi.org/10.1002/mgg3.70091
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 0.00