Case Report: A prenatal case with sex discordance between non-invasive prenatal testing and fetal genetic testings due to maternal rare chromosome karyotype
We presented a case in which there was a sex discrepancy between NIPT and fetal genetic testing due to a rare chromosome karyotype in the mother. NIPT was merely a prenatal screening test. Consequently, patients who had a screen-positive result for a chromosomal anomaly following NIPT ought to be properly counselled and advised to undergo an invasive diagnostic procedure for confirmation.
Authors
- Dina Chen
- Zeyan Zhong
- Jiajia Wu (ORCID: https://orcid.org/0000-0002-2766-9754)
- Zhiyang Guan (ORCID: https://orcid.org/0000-0002-2407-4835)
- Jianhong Chen (ORCID: https://orcid.org/0000-0002-9501-5031)
- Guoxing Zhong (ORCID: https://orcid.org/0000-0001-9101-1984)
- Shaohui Huang
Institutions
- Huizhou Central People's Hospital (CN)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2025-05-06
- DOI
- https://doi.org/10.3389/fgene.2025.1546579
- Citations
- 2
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 6.99
Funders
- Basic and Applied Basic Research Foundation of Guangdong Province