1 results match your criteria: "Polidiagnostic Strumental Centre[Affiliation]"
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.
Genes (Basel)
November 2024
AMES, Polidiagnostic Strumental Centre, Srl, 80013 Naples, Italy.
Article Synopsis
- - A 37-year-old woman with a balanced reciprocal translocation was found to have a high-risk non-invasive prenatal screening test indicating potential chromosome 18 abnormalities during her 13th week of pregnancy.
- - Advanced techniques including cytogenetic analysis, FISH, and SNP-array were used to analyze her amniotic cells, revealing duplications on chromosome 18 and chromosome 9, suggesting aneuploidies.
- - The study emphasizes the importance of using a combination of NIPT and detailed cytogenetic approaches to accurately detect and confirm chromosomal anomalies in high-risk pregnancies.