| Autor: |
Nicoletta Villa, Serena Redaelli, Stefania Farina, Elena Sala, Francesca Crosti, Sabrina Cozzolino, Maria Verderio, Leda Dalprà, Gaia Roversi, Angela Bentivegna, Giovanni Cazzaniga, Marialuisa Lavitrano, Donatella Conconi |
| Jazyk: |
angličtina |
| Rok vydání: |
2024 |
| Předmět: |
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| Zdroj: |
Diagnostics, Vol 14, Iss 16, p 1732 (2024) |
| Druh dokumentu: |
article |
| ISSN: |
2075-4418 |
| DOI: |
10.3390/diagnostics14161732 |
| Popis: |
When an increased nuchal translucency (>3.00 mm) is observed during the echographic examination of a foetus in the first trimester of pregnancy, an increased risk of chromosomopathy is considered, and the pregnant woman is offered the possibility of an invasive investigation. Here, we focused our attention on prenatal diagnosis issues in cases of foetuses with cytogenetically balanced reciprocal translocations. We report the finding of a cytogenetically balanced, de facto genomically unbalanced translocation that poses a challenge in a case of prenatal diagnosis, changing the risk of Down syndrome in a Zellweger syndromic spectrum risk (PEX3 deletion). At term, a healthy baby was born. This case teaches that prenatal diagnosis in cases of foetuses at increased risk of chromosomal abnormality imperatively requires molecular investigation in addition to a morphological karyotype. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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