Italy Archives - Global NIPT Consortium https://niptconsortium.com/category/italy/ Noninvasive Prenatal Testing (NIPT) Consortium Thu, 30 Nov 2023 18:32:11 +0000 en-US hourly 1 A Case Report of a Feto-Placental Mosaicism Involving a Segmental Aneuploidy: A Challenge for Genome Wide Screening by Non-Invasive Prenatal Testing of Cell-Free DNA in Maternal Plasma. https://niptconsortium.com/a-case-report-of-a-feto-placental-mosaicism-involving-a-segmental-aneuploidy-a-challenge-for-genome-wide-screening-by-non-invasive-prenatal-testing-of-cell-free-dna-in-maternal-plasma/ Thu, 30 Nov 2023 16:09:22 +0000 https://niptconsortium.com/?p=9982 De Falco L, Vitiello G, Savarese G, et al. Genes (Basel). 2023;14(3):668. Published 2023 Mar 7. doi:10.3390/genes14030668. Open Access: Learn more Tags: Case Report / Case Series, 2023, Italy, CNVs Case report of 44.1 Mb 4p dup detected by NIPT at 12 weeks. Amniocentesis was performed at 18 weeks; SNP (single nucleotide polymorphism) array found […]

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]]> De Falco L, Vitiello G, Savarese G, et al. Genes (Basel). 2023;14(3):668. Published 2023 Mar 7. doi:10.3390/genes14030668. Open Access: Learn more

Tags: Case Report / Case Series, 2023, Italy, CNVs

  • Case report of 44.1 Mb 4p dup detected by NIPT at 12 weeks. Amniocentesis was performed at 18 weeks; SNP (single nucleotide polymorphism) array found a de novo2 Mb deletion on chromosome 4 near the Wolf-Hirschhorn syndrome critical region and a normal 46,XY karyotype was identified by G-banding analysis.
  • Studies of fetal and placental tissue confirmed presence of type VI true fetal mosaicism, with SNP array on 3 placental samples showing different results.

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]]> Clinical Experience with Genome-Wide Noninvasive Prenatal Screening in a Large Cohort of Twin Pregnancies. https://niptconsortium.com/clinical-experience-with-genome-wide-noninvasive-prenatal-screening-in-a-large-cohort-of-twin-pregnancies/ Thu, 30 Nov 2023 16:05:55 +0000 https://niptconsortium.com/?p=9974 De Falco L, Savarese G, Savarese P, et al. Genes (Basel). 2023;14(5):982. Published 2023 Apr 26. doi:10.3390/genes14050982. Open Access: Learn more Tags: Laboratory Performance / Laboratory Experience, 2023, Italy, RAAs, CNVs Cohort of 1,244 twin pregnancy samples undergoing NIPT, of which 61.5% chose GW-NIPT for RAAs and CNVs in addition to common trisomies. There were […]

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]]> De Falco L, Savarese G, Savarese P, et al. Genes (Basel). 2023;14(5):982. Published 2023 Apr 26. doi:10.3390/genes14050982. Open Access: Learn more

Tags: Laboratory Performance / Laboratory Experience, 2023, Italy, RAAs, CNVs

  • Cohort of 1,244 twin pregnancy samples undergoing NIPT, of which 61.5% chose GW-NIPT for RAAs and CNVs in addition to common trisomies.
  • There were 29 high-risk results: 18 T21, one T18, 6 RAA, and 4 CNV cases. Clinical and diagnostic follow-up was available for 27/29 (93%) of these cases.
  • Clinical follow-up was available for 96.6% of low-risk cases; all were true negatives.

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]]> Positive predictive values and outcomes for uninformative cell-free DNA tests: An Italian multicentric Cytogenetic and cytogenomic Audit of diagnOstic testing (ICARO study). https://niptconsortium.com/positive-predictive-values-and-outcomes-for-uninformative-cell-free-dna-tests-an-italian-multicentric-cytogenetic-and-cytogenomic-audit-of-diagnostic-testing-icaro-study/ Wed, 30 Nov 2022 16:17:42 +0000 https://niptconsortium.com/?p=10001 Grati FR, Bestetti I, De Siero D, et al.. Prenat Diagn. 2022;42(13):1575-1586. doi:10.1002/pd.6271. Tags: Laboratory Performance / Laboratory Experience, 2022, Italy, RAAs “Diagnostic test results were collected for 1327 women with a positive NIPT. The highest PPVs were for Trisomy (T) 21 (624/671, 93%) and XYY (26/27, 96.3%), while rare autosomal trisomies (9/47, 19.1%) and […]

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]]> Grati FR, Bestetti I, De Siero D, et al.. Prenat Diagn. 2022;42(13):1575-1586. doi:10.1002/pd.6271.

Tags: Laboratory Performance / Laboratory Experience, 2022, Italy, RAAs

  • “Diagnostic test results were collected for 1327 women with a positive NIPT. The highest PPVs were for Trisomy (T) 21 (624/671, 93%) and XYY (26/27, 96.3%), while rare autosomal trisomies (9/47, 19.1%) and recurrent microdeletions (8/55, 14.5%) had the lowest PPVs.”
  • Prenatal diagnostic test results were collected by Italian laboratories between 2013 and March 2020 for 1327 women.
  • PPV for RATs was 19.1% (9/47). PPV for segmental imbalances >7 Mb was 24.1% (7/29).

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]]> The clinical utility of genome-wide non invasive prenatal screening https://niptconsortium.com/the-clinical-utility-of-genome-wide-non-invasive-prenatal-screening/ Thu, 30 Nov 2017 18:13:10 +0000 https://niptconsortium.com/?p=10112 Fiorentino F, Bono S, Pizzuti F, et al. Prenat Diagn. 2017;37(6):593-601. doi:10.1002/pd.5053. Tags: Clinical Experience / Clinical Utility, 2017, Italy, RAAs, CNVs This publication examined the test performance of NIPT for the common aneuploidies compared to that of Expanded NIPT. Expanded NIPT detected 7.4% potentially viable clinically relevant chromosome abnormalities that would have not been […]

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]]> Fiorentino F, Bono S, Pizzuti F, et al. Prenat Diagn. 2017;37(6):593-601. doi:10.1002/pd.5053.

Tags: Clinical Experience / Clinical Utility, 2017, Italy, RAAs, CNVs

  • This publication examined the test performance of NIPT for the common aneuploidies compared to that of Expanded NIPT. Expanded NIPT detected 7.4% potentially viable clinically relevant chromosome abnormalities that would have not been detected if NIPT was limited to the common aneuploidies, which resulted in a statistically significant higher sensitivity than did non-Expanded NIPT without a statistically significant impact on specificity.

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