[A case of mosaicism involving trisomy 21, maternal uniparental isodisomy, and normal diploid cells: Challenges and reflections in prenatal diagnosis].

In prenatal diagnosis, discrepancies may arise between QF-PCR and conventional chromosomal karyotyping analysis, particularly in complex genetic phenomena such as trisomy rescue and uniparental disomy. For cases where NIPT indicated a high risk of trisomy 21 but G-banding karyotype analysis yielded a normal result, further molecular genetic testing using uncultured cells is recommended.