Inherited Unbalanced Reciprocal Translocation with 18p11.32p11.21 Tetrasomy and 9q34.3 Trisomy in a Fetus Revealed by Cell-Free Fetal DNA (cffDNA) Testing: Cytogenetic and Cytogenomic Characterization in Prenatal Diagnosis
The evidence of such partial aneuploidies suggests that different mutational events may be possible at meiotic segregation or probably post-meiotic segregation. The results obtained highlight the high sensitivity of the screening test, NIPT, with massive parallel sequencing, and the usefulness of cytogenetics, cytogenomics and molecular biology techniques, in synergy, to characterize and confirm positive NIPT results.
Authors
- Nadia Petrillo
- Teresa Suero
- Raffaella Ruggiero
- Alessio Mori
- Monica Ianniello
- Carmela Ardisia
- Daniela Cino (ORCID: https://orcid.org/0000-0001-9452-3205)
- Antonio Fico
- Giuseppina Vitiello (ORCID: https://orcid.org/0000-0002-8109-4293)
- Roberto Sirica (ORCID: https://orcid.org/0000-0002-3923-4889)
- Luigia De Falco (ORCID: https://orcid.org/0000-0002-0553-2087)
- Giovanni Savarese (ORCID: https://orcid.org/0009-0004-5274-3989)
- M. Barbato
Institutions
- Azienda Ospedaliera di Perugia (IT)
- Federico II University Hospital (IT)
Publication Details
- Journal
- Genes
- Published
- 2024-11-13
- DOI
- https://doi.org/10.3390/genes15111464
- Citations
- 1
- Primary Topic
- Prenatal Screening and Diagnostics
- Type
- article
- Field-Weighted Citation Impact
- 1.11