| Autor: |
De Falco L; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.; Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy., Savarese G; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.; Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy., Savarese P; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.; Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy., Petrillo N; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.; Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy., Ianniello M; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.; Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy., Ruggiero R; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.; Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy., Suero T; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.; Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy., Barbato C; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy., Mori A; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy., Ramiro C; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.; Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy., Della Corte L; Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, 80013 Naples, Italy., Saccone G; Department of Neuroscience, Reproductive Sciences and Dentistry, School of Medicine, University of Naples Federico II, 80013 Naples, Italy., Di Spiezio Sardo A; Department of Public Health, Gynecology Unit-Federico II University Hospital of Naples, 80138 Naples, Italy., Fico A; AMES, Centro Polidiagnostico Strumentale, 80013 Naples, Italy.; Fondazione Genetica per la Vita Onlus, 80132 Naples, Italy. |
| Abstrakt: |
Non-invasive prenatal screening (NIPS) in twin gestations has been shown to have high detection rates and low false-positive rates for trisomy 21, as seen in singleton pregnancies, although there have been few large cohort twin studies, genome-wide studies in particular, to date. In this study, we looked at the performance of genome-wide NIPT in a large cohort consisting of 1244 twin pregnancy samples collected over a two-year period in a single laboratory in Italy. All samples underwent an NIPS for common trisomies, with 61.5% of study participants choosing to undergo genome-wide NIPS for additional fetal anomalies (namely, rare autosomal aneuploidies and CNVs). There were nine initial no-call results, all of which were resolved upon retest. Based on our NIPS results, 17 samples were at high risk for trisomy 21, one for trisomy 18, six for a rare autosomal aneuploidy, and four for a CNV. Clinical follow-up was available for 27 out of 29 high-risk cases; a sensitivity of 100%, a specificity of 99.9%, and a PPV of 94.4% were noted for trisomy 21. Clinical follow-up was also available for 1110 (96.6%) of the low-risk cases, all of which were true negatives. In conclusion, we found that NIPS was a reliable screening approach for trisomy 21 in twin pregnancies. |
