References
1Natera internal data on file
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2Definitive Healthcare report to identify billing for NIPT based on US Clearinghouse for Medical Claims using CPT codes 81420, 81507, 81422.
3Dar et al. Am J Obstet Gynecol. 2022 Aug;227(2):259.e1-259.e14.
4ACOG Practice Bulletin 226. Obstet Gynecol. 2020 Oct;136(4):859-867.
5Dar et al. Am J Obstet Gynecol. 2022. https://doi.org/10.1016/j.ajog.2022.01.002
6Kantor V, et al. Prenat Diagn. 2022 Jul;42(8):994-999.
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7DiNonno et al. J Clin Med. 2019 Aug 26;8(9):1311.
8Martin et al. ISUOG World Congress 2022: September, 2022.
9Nicolaides KH et al. Fetal Diagn Ther. 2014;35(3):212-7. https://doi.org/10.1159/000355655
10Kantor V, et al. Prenat Diagn. 2022 Dec;42(13).
11Martin K et al. Genet in Med. 2023. doi: https://doi.org/10.1016/j.gim.2023.100879
12Martin et al. Clin Genet. 2018 Feb;93(2):293-300.
13Wapner et al. Am J Obstet Gynecol. 2015 Mar;212(3):332.e1-9.
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14Norwitz et al. J Clin Med. 2019 Jun; 8:937.
Footnotes
* CA residents: If your clinician ordered screening through the California Prenatal Screening program using Natera’s Vasistera™ NIPT, Panorama™ will only screen for supplemental conditions. If this is the case, trisomies 21, 18 and 13, and fetal sex (optional) will be screened using Vasistera™ NIPT and will be reported separately.
** Not available for egg-donor or gestational carrier pregnancies or in cases of dizygotic (nonidentical) twins. Triploidy and microdeletions except for 22q11.2 deletions are not available for monozygotic (identical) twins.
† This test has been validated on full region deletions of Prader-Willi syndrome/Angelman syndrome (PWS/AS) only and might be unable to detect smaller deletions. It has not been validated for other molecular mechanisms which could cause PWS/AS such as uniparental disomy (UPD) or methylation.
‡ Ongoing clinical follow-up is performed to ensure the NPV does not fall below the quoted value but follow up is not obtained for all low risk calls.
§ PPV for 22q11.2 deletion syndrome and Angelman syndrome in published studies was 53% and 10% respectively when no ultrasound anomalies were seen and was up to 100% when ultrasound anomalies were seen prior to testing.
|| Dependent upon fetal fraction (FF). For 22q11.2 deletion syndrome, only the paternal allele is evaluated at FF ≤ 6.5%. For 1p36 deletion syndrome and Cri-du-chat syndrome, only the paternal allele is evaluated at FF < 7%. For Angelman syndrome, no risk assessment is reported at FF < 7%. For Prader-Willi syndrome, no risk assessment is reported at FF ≤ 2.8%.
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