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Women's Health Publications

2023

  1. Panorama: SMART study 22q11.2DS Clinical Utility | Open Access
    Martin et al. Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study. Prenat. Diagn 2023
  2. Panorama: Maternal Malignancies | Open Access
    Goldring G, Trotter C, Meltzer JT, et al. Maternal Malignancy After Atypical Findings on Single-Nucleotide Polymorphism-Based Prenatal Cell-Free DNA Screening. Obstetrics and Gynecology 2023 Mar 09. doi: 10.1097/AOG.0000000000005107. Epub ahead of print.
  3. Panorama: SMART Study Findings from Non-Reportable Outcomes | Open Access
    Norton ME, MacPherson C, Demko Z et al. Obstetrical, perinatal and genetic outcomes associated with non-reportable prenatal cell free DNA screening results. American Journal of Obstetrics and Gynecology

    2023 Mar 23. doi: https://doi.org/10.1016/j.ajog.2023.03.026. Epub ahead of print.

  4. Panorama: SMART Study Sex Chromosome Aneuploidies | Open Access
    Martin K, Dar P, MacPherson C, et al. Performance of prenatal cfDNA screening for sex chromosomes. Genetics in Medicine

    2023 May 5. doi:https://doi.org/10.1016/j.gim.2023.100879. Epub ahead of print.

  5. Horizon: Carrier Manifestations | Open Access
    Souter, V., Prigmore, B., Becraft, E., et al. Reproductive Carrier Screening Results With Maternal Health Implications During Pregnancy. Obstetrics and Gynecology

    2023 Aug 10. doi:https://doi.org/10.1097/AOG.0000000000005318. Epub ahead of print.

2022

  1. Panorama: SMART Study Aneuploidies | Open Access
    Dar P, Jacobsson B, MacPherson C, et al. Cell-free DNA screening for trisomies 21, 18, and 13 in pregnancies at low and high risk for aneuploidy with genetic confirmation. American Journal of Obstetrics and Gynecology 2022 Jan 25. Epub ahead of print. PMID: 35085538.
  2. Panorama: SMART Study 22q Findings | Open Access
    Dar P, Jacobsson B, Clifton R, et al. Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome. American Journal of Obstetrics and Gynecology 2022 Jan 13. Epub ahead of print. PMID: 35033576.
  3. Panorama: Triploidy Detection | Open Access
    Kantor V, Jelsema R, Xu W, et al. Non-invasive prenatal screening for fetal triploidy using single nucleotide polymorphism‐based testing: Differential diagnosis and clinical management in cases showing an extra haplotype. Prenatal Diagnosis 2022 May 16.
  4. Panorama: NIPT Meta Analysis | Open Access
    Demko Z, Prigmore B, Benn P. A Critical Evaluation of Validation and Clinical Experience Studies in Non-Invasive Prenatal Testing for Trisomies 21, 18, and 13 and Monosomy X. Journal of Clinical Medicine 2022 Aug 15.
  5. Panorama: Twins Chorionicity | Open Access
    Wojas A, Martin KA, Koyen Malashevich AE, et al. Clinician‐reported chorionicity and zygosity assignment using single‐nucleotide polymorphism‐based cell‐free DNA: Lessons learned from 55,344 twin pregnancies. Prenatal Diagnosis 2022 Sept 7.
  6. Horizon: Automated Variant Interpretation | Open Access
    Gall BJ, Smart TB, Munch R, et al. Assessment of an automated approach for variant interpretation in screening for monogenic disorders: A single-center study. Molecular Genetics and Genomic Medicine 2022 Nov 5.
  7. Panorama: Twins Clinical Experience | Open Access
    Kantor V, Mo L, DiNonno W, et al. Positive predictive value of a single nucleotide polymorphism (SNP)‐based NIPT for aneuploidy in twins: Experience from clinical practice. Prenatal Diagnosis 2022 Nov 6.

2021

  1. Panorama: NIPT in Management of Twin Pregnancies | Open Access
    Benn P, Rebarber A. Non‐invasive prenatal testing in the management of twin pregnancies. Prenatal Diagnosis 2021; 1-8.
  2. Horizon: Leukodystrophies and Carrier Screening | Not Open Access
    Schmidt JL, Pizzino A, Nicholl J et al. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next-generation sequencing. American Journal of Medical Genetics Part A. 182.8 (2020): 1906-1912.
  3. Vistara: Clinical Experience | Open Access
    Mohan P, Lemoine J, Trotter C, et al. Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD). Ultrasound Obstet Gynecol. 2021 Aug 6. Epub ahead of print. PMID: 34358384.

2020

  1. Vistara: HRAS Mutation Case Study | Open Access
    Nwakalor C, Said-Delgado S, Krinshpun S, et al. De novo HRAS gene mutation associated with costello syndrome identified by non-invasive cell-free fetal DNA screening. Prenatal Diagnosis 2020;1–4.
  2. Panorama: Maternal X Anomalies in NIPT | Open Access
    Martin KA, Samango-Sprouse CA, Kantor V, et al. Detection of maternal x chromosome abnormalities using single nucleotide polymorphism-based noninvasive prenatal testing. Am J Obstet Gynecol MFM 2020;2:100152.
  3. Horizon: Clinical Experience | Open Access
    Westmeyer M, Saucier J, Wallace J, et al. Clinical experience with carrier screening in a general population: support for a comprehensive pan-ethnic approach. Genetics in Medicine 2020;22:1320-1328.
  4. Panorama: Fetal Sex Discrepancies between NIPT and Ultrasound | Open Access
    Dhamankar R, DiNonno W, Martin KA, et al. Fetal sex results of noninvasive prenatal testing and differences with ultrasonography. Obstetrics and Gynecology 2020;135(5):1198-1206.
  5. Anora: Ectopic Pregnancies | Open Access
    Ruderman RS, McQueen DB, Robins JC et al. Novel Ploidy Analysis in Ectopic Pregnancy. Fertil Steril Rep 2020;2(1):67-71.

2019

  1. Panorama: Hemoglobinopathies Associated With Low Fetal Fraction | Open Access
    Putra M, Idler J, Patek K, et al. The association of HBB-related significant hemoglobinopathies and low fetal fraction on non-invasive prenatal screening for fetal aneuploidy. The Journal of Maternal-Fetal and Neonatal Medicine 2021;34(22):3657-3661.
  2. Panorama: Fetal Fraction-Based Risk Assessment for Aneuploidy | Open Access
    Benn P, Martin K, McKanna T, et al. Combining the use of a fetal fraction based risk algorithm and probability of an informative redraw in noninvasive prenatal testing for fetal aneuploidy. J Genet Couns 2019,00:1-7.
  3. Panorama: SNP-based NIPT for Twin Pregnancies | Open Access
    Hedriana H, Martin K, Saltzman D et al. Cell-free DNA in twin gestations in single nucleotide polymorphism-based non-invasive prenatal screening. Prenatal Diagnosis 2020;40(2):179-184.
  4. Anora: Molar Pregnancy in Miscarriage | Open Access
    Maisenbacher MK, Merrion K, Kutteh WH. Single-nucleotide polymorphism microarray detects molar pregnancies in 3% of miscarriages. Fertility and Sterility 2019;112(4):700-706.
  5. Panorama: Quality Assurance | Open Access
    DiNonno W, Demko Z, Martin K et al. Quality Assurance of Non-Invasive Prenatal Screening (NIPS) for Fetal Aneuploidy Using Positive Predictive Values as Outcome Measures. Journal of Clinical Medicine 2019;8(9):1311.
  6. Panorama: Twin Pregnancies Validation Study | Open Access
    Norwitz ER, McNeill G, Kalyan A, et al. Validation of a Single-nucleotide polymorphism-Based Non-Invasive Prenatal Test in Twin Gestations: Determination of Zygosity, Individual Fetal Sex, and Fetal Aneuploidy. Journal of Clinical Medicine 2019; 8(7):937.
  7. Vistara: Validation Study | Not Open Access
    Zhang J, Li J, Saucier JB, et al. Non-invasive Prenatal Sequencing for Multiple Mendelian Monogenic Disorders Using Circulating Cell-Free Fetal DNA. Nature Medicine 2019;25:439-447.
  8. Panorama: 22q Deletion Syndrome Screening with Multiple NIPTs | Open Access
    Lo L, Shiau C, Chen K, et al. Screening for 22q11.2 Deletion Syndrome by Two Non-Invasive Prenatal Testing Methodologies: A Case With Discordant Results. Taiwanese Journal of Obstetrics & Gynecology 2019;58:40-42.
  9. Panorama: Fetal Fraction-Based Risk Assessment with SNP-based NIPT | Open Access
    Mckanna T, Ryan A, Krinshpun S, et al. Fetal Fraction-Based Risk Algorithm for Non-invasive Prenatal Testing: Screening or Trisomy 13, 18, and Triploidy in Women With Low Cell-Free Fetal DNA. Ultrasound Obstet Gynecol 2019, 53(1):73-79.

2018

  1. Panorama: NIPT Short Review | Not Open Access
    Dhamankar R, Valenti E, Hedriana H. Non-invasive Prenatal Testing: A Unique Approach with Single Nucleotide Polymorphism. J Fetal Med 2018,5(2):113-119.
  2. Panorama: Redraw Success Rate After Non-Reportable Outcomes | Open Access
    Benn P, Valenti E, Shah S, et al. Factors Associated with Informative Redraw After an Initial No Result in Noninvasive Prenatal Testing. Obstet Gynecol 2018,132(2):428-435.
  3. Panorama: 22q Validation Study | Open Access
    Ravi H, McNeil G, Goel S, et al. Validation of a SNP-based non-invasive prenatal test to detect the fetal 22q11.2deletion in maternal plasma samples. PLoS One 2018,13(2):e0193476.
  4. Panorama: 22q11.2 Deletion Screening Performance | Open Access
    Ryan A, Iyengar S, Demko Z. Increased positive predictive value for a single-nucleotide polymorphism-based non-invasive prenatal test for the 22q11.2 deletion. J Fetal Med 2018;5(2):65-67.
  5. Panorama: 22q Clinical Experience | Open Access
    Martin K, Iyengar S, Kalyan A, et al. Clinical experience with a single-nucleotide polymorphism-based non-invasive prenatal test for five clinically significant microdeletions. Clin Genet 2018;93(2):293-300.
  6. Panorama: 22q Clinical Experience in Spain | Open Access
    Santamaria R, Bermejo B, Cigarran S, et al. A national referral laboratory's experience with the implementation of SNP-based non-invasive prenatal screening for fetal aneuploidy and select microdeletion syndromes. J Fetal Med 2018;5:7-12.

2017

  1. Anora: SNP Microarray vs Traditional Miscarriage Testing | Open Access
    Shah MS, Cinnioglu C, Maisenbacher M, et al. Comparison of cytogenetics and molecular karyotyping for chromosome testing of miscarriage specimens. Fertil Steril 2017;107(4):1028-1033.
  2. Panorama: Prenatal cfDNA Screening Early in Pregnancy | Open Access
    Palomaki GE, Kloza EM, O'Brien BM, et al. The clinical utility of DNA-based screening for fetal aneuploidy by primary obstetrical care providers in the general pregnancy population. Genet Med 2017;19(7):778-786.
  3. Panorama: Incidence of 22q11.2 DS in Miscarriage Samples | Open Access
    Maisenbacher MK, Merrion K, Pettersen B, et al. Incidence of the 22q11.2 deletion in a large cohort of miscarriage samples. Mol Cytogenet 2017;10:6.
  4. Panorama: 22q11.2 DS Pediatric Healthcare Costs | Open Access
    Benn P, Iyengar S, Crowley TB, et al. Pediatric healthcare costs for patients with 22q11.2 deletion syndrome. Mol Genet Genomic Med 2017;5(6):631-638.

2016

  1. Panorama: Incidence of Sex Chromosome Abnormalities | Open Access
    Samango-Sprouse C, Kirkizlar E, Hall MP, et al. Incidence of X and Y chromosomal aneuploidy in a large child bearing population. PLOS One 2016;11(8):e0161045.
  2. Panorama: Validation of Updated Algorithm | Open Access
    Ryan A, Hunkapiller N, Banjevic M, et al. Validation of an enhanced version of a single-nucleotide polymorphism-based noninvasive prenatal test for detection of fetal aneuploidies. Fetal Diagn Ther 2016;40(3):219-222.
  3. Panorama: 22q11.2 Deletion Screening Clinical Experience | Open Access
    Gross SJ, Stosic M, McDonald-McGinn DM, et al. Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome. Ultrasound Obstet Gynecol 2016;47(2):177-183.

2015

  1. Panorama: Microdeletion Validation | Open Access
    Wapner RJ, Babiarz JE, Levy B, et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol 2015;212(3):332.e1-9.
  2. Panorama: Vanishing Twin Case Study | Open Access
    Bowdoin Su, Nudelman M, Stosic M, et al. Discordant NIPT and ultrasound results from vanishing twin pregnancy. Case studies in NIPT. Published as a sponsored supplement to Contemporary OB/GYN. April 2015.
  3. Panorama: Complete Molar Case Study | Open Access
    Simon AL, Su B, Demko Z, et al. Detection of complete molar pregnancy by single-nucleotide polymorphism-based non-invasive prenatal testing. Letters to the Editor. Ultrasound Obstet Gynecol 2015;46:506-510.
  4. Panorama: Maternal CNV Proof of Concept | Open Access
    Kirkizlar E, Zimmermann B, Constantin T, et al. Detection of clonal and subclonal copy-number variants in cell-free DNA from patients with breast cancer using a massively multiplexed PCR methodology. Transl Oncol 2015;8(5):407-416.
  5. Panorama: NIPT Health Economic Model | Open Access
    Benn P, Curnow KJ, Chapman S, et al. An economic analysis of cell-free DNA non-invasive prenatal testing in the US general pregnancy population. PLOS One 2015;10(7):e0132313.
  6. Panorama: Twins/Triploidy Clinical Experience | Open Access
    Curnow KJ, Wilkins-Haug L, Ryan A, et al. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. Am J Obstet Gynecol 2015;212(1):79.e1-9.

2014

  1. Panorama: Panorama Validation (US) | Open Access
    Pergament E, Cuckle H, Zimmermann B, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol 2014;124(2 Pt 1):210-218.
  2. Anora: Genomic Imbalance in POC | Open Access
    Levy B, Sigurjonsson S, Pettersen B, et al. Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis. Obstet Gynecol 2014;124(2 Pt 1):202-209.
  3. Anora: Maternal Contamination in Miscarriage Samples | Open Access
    Lathi RB, Gustin SL, Keller J, et al. Reliability of 46,XX results on miscarriage specimens: a review of 1,222 first-trimester miscarriage specimens. Fertil Steril 2014;101(1):178-182.
  4. Panorama: Trisomy 13 Study | Open Access
    Hall MP, Hill M, Zimmermann B, et al. Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach. PLoS One 2014;9(5):e96677.
  5. Panorama: Panorama Clinical Experience| Open Access
    Dar P, Curnow KJ, Gross SJ, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism- based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014;211(5):527.e1-527.e17.
  6. Panorama: Triploidy Validation | Not Open Access
    Nicolaides KH, Syngelaki A, del Mar Gil M, et al. Prenatal detection of fetal triploidy form cell-free DNA testing in maternal blood. Fetal Diagn Ther 2014;35(3):212-217.

2013

  1. Panorama: NIPT for Sex Chromosome Anomalies | Open Access
    Samango-Sprouse C, Banjevic M, Ryan A, et al. SNP-based non-invasive prenatal testing detects sex chromosome aneuploidies with high accuracy. Prenat Diagn 2013;33(7):643-649.
  2. Panorama: NIPT Review | Open Access
    Norwitz ER, Levy B. Noninvasive prenatal testing: the future is now. Rev Obstet Gynecol 2013;6(2):48-62.
  3. Panorama: NIPT Validation (Europe) | Open Access
    Nicolaides KH, Syngelaki A, Gil M, et al. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2013;33(6):575-579.
  4. Panorama: NIPT Review| Not Open Access
    Hall MP. The rapid evolution of noninvasive prenatal testing. IVD Technology - Molecular Diagnostics. 2013

2012

  1. Panorama: Proof of Principle Study | Open Access
    Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012;32(13):1233-1241.
  2. Anora: Anora Validation | Open Access
    Lathi RB, Massie JA, Loring M, et al. Informatics enhanced SNP microarray analysis of 30 miscarriage samples compared to routine cytogenetics. PLoS One 2012;7(3):e31282.