Cell-free DNA screening for aneuploidies in 7113 pregnancies: single Italian centre study
| Autor: | Anthony Cesta, Claudio Giorlandino, Salvatore Longo, Antonella Cima, Maria Antonietta Barone, Antonella Viola, Alvaro Mesoraca, Katia Margiotti, Davide Sparacino, Claudio Dello Russo |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
medicine.medical_specialty Trisomy 13 Syndrome Dna testing 03 medical and health sciences Sex chromosome aneuploidy Young Adult 0302 clinical medicine Pregnancy Prenatal Diagnosis Genetics Retrospective analysis medicine chromosome aneuploidies Humans Mass Screening Short Paper 030212 general & internal medicine Genetic Testing Retrospective Studies 030219 obstetrics & reproductive medicine business.industry Obstetrics Clinical performance Chromosome High-Throughput Nucleotide Sequencing Karyotype General Medicine Middle Aged medicine.disease Aneuploidy cffDNA Cell-free fetal DNA Italy Female next-generation sequencing Down Syndrome Trisomy business Cell-Free Nucleic Acids Trisomy 18 Syndrome cell-free foetal DNA NIPT |
| Zdroj: | Genetics Research |
| ISSN: | 1469-5073 0016-6723 |
| Popis: | IntroductionNon-invasive prenatal testing (NIPT) using cell-free foetal DNA has been widely accepted in recent years for detecting common foetal chromosome aneuploidies, such as trisomies 13, 18 and 21, and sex chromosome aneuploidies. In this study, the practical clinical performance of our foetal DNA testing was evaluated for analysing all chromosome aberrations among 7113 pregnancies in Italy.MethodsThis study was a retrospective analysis of collected NIPT data from the Ion S5 next-generation sequencing platform obtained from Altamedica Medical Centre in Rome, Italy.ResultsIn this study, NIPT showed 100% sensitivity and 99.9% specificity for trisomies 13, 18 and 21. Out of the 7113 samples analysed, 74 cases (1%) were positive by NIPT testing; foetal karyotyping and follow-up results validated 2 trisomy 13 cases, 5 trisomy 18 cases, 58 trisomy 21 cases and 10 sex chromosome aneuploidy cases. There were no false-negative results.ConclusionIn our hands, NIPT had high sensitivity and specificity for common chromosomal aneuploidies such as trisomies 13, 18 and 21. |
| Databáze: | OpenAIRE |
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