Fonti Bibliografiche

PrenatalSafe: Bibliografia

1. Bianchi DW, Parsa S, Bhatt S, Halks-Miller M, Kurtzman K, Sehnert AJ, Swanson A. Fetal sex chromosome testing by maternal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol. 2015 Feb;125(2):375-82.
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2. Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, Craig JA, Chudova DI, Devers PL, Jones KW, Oliver K, Rava RP, Sehnert AJ; CARE Study Group. DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med. 2014 Feb 27;370(9):799-808.
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3. Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem. 2014 Jan;60(1):243-50.
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4. Bianchi DW, Prosen T, Platt LD, Goldberg JD, Abuhamad AZ, Rava RP, Sehnert AJ; Maternal BLood is Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group. Massively parallel sequencing of maternal plasma DNA in 113 cases of fetal nuchal cystic hygroma. Obstet Gynecol. 2013 May;121(5):1057-62.
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5. Futch T, Spinosa J, Bhatt S, de Feo E, Rava RP, Sehnert AJ. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013, 33, 569–574.
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6. Srinivasan et al. Noninvasive Detection of Fetal Subchromosome Abnormalities via Deep Sequencing of Maternal Plasma American Journal of Human Genetics 2013, 92:167-176
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7. Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 2012;119:890–901.
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8. Sehnert AJ, Rhees B, Comstock D, et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011;57:1042–9.
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Tween Pregnancy

9. Clinical laboratory experience with noninvasive prenatal testing in twin gestations. poster presentation from the 2015 Annual Meeting of the Society for Maternal- Fetal Medicine.
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10. Verinata Health, Inc. (2012) Analytical Validation of the verifi Prenatal Test: Enhanced Test Performance For Detecting Trisomies 21, 18 and 13 and the Option for Classification of Sex Chromosome Status. Redwood City, CA
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Linee Guida e Policy Statements

11. American College of Obstetricians & Gynecologists: ACOG Practice Bulletin 77, Screening for Fetal Chromosomal Abnormalities.Obstet Gynecol. 2007. 109; 217–228.

12. American College of Obstetricians & Gynecologists: Committee Opinion No. 545. Noninvasive Prenatal Testing for Fetal Aneuploidy. Obstet Gynecol. 2012; 120:1532–4.
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13. American College of Medical Genetics and Genomics: ACMG statement on noninvasive prenatal screening for fetal aneuploidy Genet Med 2013:15(5):395–398
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14. International Society of Prenatal Diagnosis (ISPD): Position Statement from the Aneuploidy Screening Committee on Behalf of the Board of the International Society for Prenatal Diagnosis, April 2013
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15. International Society of Prenatal Diagnosis (ISPD): ISPD Rapid Response Statement: Prenatal Detection of Down Syndrome using Massively Parallel Sequencing (MPS): A rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 2011
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16. National Society of Genetic Counselors (NSGC): NSGC’s NIPT White Paper: The position of the National Society of Genetic Counselors, 29 June 2012
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17. Società Italiana di Genetica Umana (SIGU) 2014
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18. SIEOG 2014
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