Prenatal Aneuploidy Diagnosis and Screening Techniques

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Ahn, J., Hwang, I.-S., Park, M.-R., Rosa-Velazquez, M., Cho, I.-C., Relling, A. E., Hwang, S., & Lee, K. (2025). Evolutionary lineage-specific genomic imprinting at the ZNF791 locus. PLOS Genetics, 21(1), e1011532. https://doi.org/10.1371/journal.pgen.1011532
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Levy, B., Liu, J., Iqbal, M. A., DuPont, B., Sahajpal, N., Ho, M., Yu, J., Brody, S. J., Ganapathi, M., Rajkovic, A., Smolarek, T. A., Boyar, F., Bui, P., Dubuc, A. M., Kolhe, R., & Stevenson, R. E. (2024). Multisite Evaluation and Validation of Optical Genome Mapping for Prenatal Genetic Testing. The Journal of Molecular Diagnostics. https://doi.org/10.1016/j.jmoldx.2024.06.006
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Bangirana, P., Boehme, A. K., Birabwa, A., Opoka, R. O., Munube, D., Mupere, E., Kasirye, P., Muwanguzi, G., Musiimenta, M., Ru, G., Green, N. S., & Idro, R. (2024). Neurocognitive impairment in Ugandan children with sickle cell anemia compared to sibling controls: a cross-sectional study. Frontiers in Stroke, 3. https://doi.org/10.3389/fstro.2024.1372949
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Bellair, M., Amaral, E., Ouren, M., Roark, C., Kim, J., O’Connor, A., Soriano, A., Schindler, M. L., Wapner, R. J., Stone, J. L., Tavella, N., Merriam, A., Perley, L., Breman, A. M., & Beaudet, A. L. (2024). Noninvasive single‐cell‐based prenatal genetic testing: A proof of concept clinical study. Prenatal Diagnosis, 44(3), 304–316. Portico. https://doi.org/10.1002/pd.6529
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Singh, S., Bortoletto, P., Wylie, B. J., Melnick, A. P., & Prabhu, M. (2024). The impact of reference growth standards on small- and large-for-gestational age outcomes among pregnancies conceived by fresh and frozen embryo transfers. F&S Reports, 5(2), 164–169. https://doi.org/10.1016/j.xfre.2024.02.005
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Radzik, A. M., Amezcua, L., Anderson, A., Gilmore, S., Ahmad, S., Brandstadter, R., Fabian, M. T., Graham, E. L., Hodgkinson, S., Horton, L., Jacobs, D. A., Katz Sand, I. B., Kohli, A., Levine, L., McLemore, M., Okai, A. F., Patel, J., Poole, S., Riley, C., … Bove, R. (2024). Disparities by Race in Pregnancy Care and Clinical Outcomes in Women With Multiple Sclerosis. Neurology, 102(4). https://doi.org/10.1212/wnl.0000000000208100
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Duyzend, M. H., Cacheiro, P., Jacobsen, J. O. B., Giordano, J., Brand, H., Wapner, R. J., Talkowski, M. E., Robinson, P. N., & Smedley, D. (2024). Improving prenatal diagnosis through standards and aggregation. Prenatal Diagnosis, 44(4), 454–464. Portico. https://doi.org/10.1002/pd.6522
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Levy, B., Kanagal‐Shamanna, R., Sahajpal, N. S., Neveling, K., Rack, K., Dewaele, B., Olde Weghuis, D., Stevens‐Kroef, M., Puiggros, A., Mallo, M., Clifford, B., Mantere, T., Hoischen, A., Espinet, B., Kolhe, R., Solé, F., Raca, G., & Smith, A. C. (2024). A framework for the clinical implementation of optical genome mapping in hematologic malignancies. American Journal of Hematology, 99(4), 642–661. Portico. https://doi.org/10.1002/ajh.27175
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Broeckel, U., Iqbal, M. A., Levy, B., Sahajpal, N., Nagy, P. L., Scharer, G., Rodriguez, V., Bossler, A., Stence, A., Skinner, C., Skinner, S. A., Kolhe, R., & Stevenson, R. (2024). Detection of Constitutional Structural Variants by Optical Genome Mapping. The Journal of Molecular Diagnostics, 26(3), 213–226. https://doi.org/10.1016/j.jmoldx.2023.12.003
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Bi, X., Iglesias, A., Levy, B., & Aggarwal, V. (2024). P702: Mosaic monosomy/partial trisomy 13 resulting from an unstable ring chromosome in a child with multiple congenital anomalies and developmental delay. Genetics in Medicine Open, 2, 101606. https://doi.org/10.1016/j.gimo.2024.101606
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Wapner, R. J., Giordano, J. L., de Voest, J., Gilmore, K. L., Westerfield, L., Tinfow, A., Galloway, S., Tolusso, L., Wong, B., Jackson, F., Bonesteele, G., Wittman, T., Stevens, B., Stover, S., Johnson, A., Leslie, N. D., Swarr, D., Caughey, A. B., Chung, W., … Vora, N. L. (2024). 1 Multicenter, prospective cohort of genome sequencing in 750 fetal structural anomalies. American Journal of Obstetrics and Gynecology, 230(1), S2. https://doi.org/10.1016/j.ajog.2023.11.015
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Slavotinek, A., Rego, S., Sahin-Hodoglugil, N., Kvale, M., Lianoglou, B., Yip, T., Hoban, H., Outram, S., Anguiano, B., Chen, F., Michelson, J., Cilio, R. M., Curry, C., Gallagher, R. C., Gardner, M., Kuperman, R., Mendelsohn, B., Sherr, E., Shieh, J., … Norton, M. E. (2023). Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. Npj Genomic Medicine, 8(1). https://doi.org/10.1038/s41525-023-00353-0
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Columbia Affiliation
Kanter, J., Thompson, A. A., Kwiatkowski, J. L., Parikh, S., Mapara, M., Rifkin-Zenenberg, S., Aygun, B., Kasow, K. A., Gupta, A. O., Zhang, L., Sheldon-Waniga, E., Gallagher, M., Gruppioni, K., Chawla, A., Elliot, H., Pierciey, F. J., Walters, M. C., & Tisdale, J. F. (2023). Efficacy, Safety, and Health-Related Quality of Life (HRQOL) in Patients with Sickle Cell Disease (SCD) Who Have Received Lovotibeglogene Autotemcel (Lovo-cel) Gene Therapy: Up to 60 Months of Follow-up. Blood, 142(Supplement 1), 1051–1051. https://doi.org/10.1182/blood-2023-174229
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Hanna, R., Frangoul, H., McKinney, C., Pineiro, L., Mapara, M., Dalal, J., Chang, K.-H., Jaskolka, M., Kim, K., Farrington, D. L., Wally, M., Mei, B., Lawal, A., Afonja, O. O., & Walters, M. C. (2023). AsCas12a Gene Editing of HBG1/2 Promoters with EDIT-301 Results in Rapid and Sustained Normalization of Hemoglobin and Increased Fetal Hemoglobin in Patients with Severe Sickle Cell Disease and Transfusion-Dependent Beta-Thalassemia. Blood, 142(Supplement 1), 4996–4996. https://doi.org/10.1182/blood-2023-187397
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Lowther, C., Valkanas, E., Giordano, J. L., Wang, H. Z., Currall, B. B., O’Keefe, K., Pierce-Hoffman, E., Kurtas, N. E., Whelan, C. W., Hao, S. P., Weisburd, B., Jalili, V., Fu, J., Wong, I., Collins, R. L., Zhao, X., Austin-Tse, C. A., Evangelista, E., Lemire, G., … Talkowski, M. E. (2023). Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies. The American Journal of Human Genetics, 110(9), 1454–1469. https://doi.org/10.1016/j.ajhg.2023.07.010
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Hanna, R., Frangoul, H., Mckinney, C., Pineiro, L., Mapara, M., Chang, K.-H., Jaskolka, M., Kim, K., Rizk, M., Afonja, O., Lawal, A., & Walters, M. (2023). S264: EDIT-301 SHOWS PROMISING PRELIMINARY SAFETY AND EFFICACY RESULTS IN THE PHASE I/II CLINICAL TRIAL (RUBY) OF PATIENTS WITH SEVERE SICKLE CELL DISEASE USING HIGHLY SPECIFIC AND EFFICIENT ASCAS12A ENZYME. HemaSphere, 7(S3), e05170e0. https://doi.org/10.1097/01.hs9.0000967968.05170.e0
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Locatelli, F., Lang, P., Corbacioglu, S., LI, A., De La Fuente, J., Wall, D., Meisel, R., Shah, A. J., Liem, R., Mapara, M., Carpenter, B., Kwiatkowski, J., Domenica Cappellini, M., Kattamis, A., Sheth, S., Grupp, S., Kohli, P., Shi, D., Ross, L., … Frangoul, H. (2023). S270: TRANSFUSION INDEPENDENCE AFTER EXAGAMGLOGENE AUTOTEMCEL IN PATIENTS WITH TRANSFUSION-DEPENDENT ΒETA-THALASSEMIA. HemaSphere, 7(S3), e8473180. https://doi.org/10.1097/01.hs9.0000967992.84731.80
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Iqbal, M. A., Broeckel, U., Levy, B., Skinner, S., Sahajpal, N. S., Rodriguez, V., Stence, A., Awayda, K., Scharer, G., Skinner, C., Stevenson, R., Bossler, A., Nagy, P. L., & Kolhe, R. (2023). Multisite Assessment of Optical Genome Mapping for Analysis of Structural Variants in Constitutional Postnatal Cases. The Journal of Molecular Diagnostics, 25(3), 175–188. https://doi.org/10.1016/j.jmoldx.2022.12.005
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Mustafa, H. J., Sambatur, E., Heydari, M.-H., Yaron, Y., Baptiste, C., Khalil, A., Wapner, R., & Al-Kouatly, H. B. (2023). Prenatal agenesis of corpus callosum and diagnostic yield with exome sequencing, systematic review and metanalysis. American Journal of Obstetrics and Gynecology, 228(1), S320. https://doi.org/10.1016/j.ajog.2022.11.563
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Timmins, G. T., Wynn, J., Saami, A. M., Espinal, A., & Chung, W. K. (2022). Diverse Parental Perspectives of the Social and Educational Needs for Expanding Newborn Screening through Genomic Sequencing. Public Health Genomics, 25(5–6), 185–192. Portico. https://doi.org/10.1159/000526382
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Meacham, L. R., Pecker, L. H., Gee, B., & Mishkin, A. (2022). Incorporating gonadal health counseling into pediatric care of sickle cell patients. Hematology, 2022(1), 442–449. https://doi.org/10.1182/hematology.2022000382
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Pfledderer, C. D., Gren, L. H., Frost, C. J., Andrulis, I. L., Chung, W. K., Genkinger, J., Glendon, G., Hopper, J. L., John, E. M., Southey, M., Terry, M. B., & Daly, M. B. (2022). Women’s thoughts on receiving and sharing genetic information: Considerations for genetic counseling. Journal of Genetic Counseling, 31(6), 1249–1260. Portico. https://doi.org/10.1002/jgc4.1599
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George, S. A., Veludhandi, A., Xiang, Y., Stenger, E., Arnold, S. D., Mehta, A., Schirmer, D. A., Spencer, J. B., Guilcher, G. M., Bhatia, M., Abraham, A., Gomez-Lobo, V., Krishnamurti, L., & Meacham, L. R. (2022). Gonadal Hormone Production after Hematopoietic Cell Transplant (HCT) in Patients with Sickle Cell Disease (SCD): A Stellar Study. Blood, 140(Supplement 1), 1391–1392. https://doi.org/10.1182/blood-2022-168060
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Frangoul, H., Locatelli, F., Bhatia, M., Mapara, M. Y., Molinari, L., Sharma, A., Lobitz, S., de Montalembert, M., Rondelli, D., Steinberg, M., Walters, M. C., Imren, S., Zhang, L., Sharma, A., Song, Y., Simard, C., Hobbs, W., & Grupp, S. (2022). Efficacy and Safety of a Single Dose of Exagamglogene Autotemcel for Severe Sickle Cell Disease. Blood, 140(Supplement 1), 29–31. https://doi.org/10.1182/blood-2022-162353
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Locatelli, F., Lang, P., Li, A., Corbacioglu, S., de la Fuente, J., Wall, D. A., Liem, R., Meisel, R., Mapara, M. Y., Shah, A. J., Cappellini, M. D. D., Kattamis, A., Sheth, S., Bobruff, Y., Bower, L., Zhang, L., Sharma, A., Song, Y., Hobbs, W., & Frangoul, H. (2022). Efficacy and Safety of a Single Dose of Exagamglogene Autotemcel for Transfusion-Dependent β-Thalassemia. Blood, 140(Supplement 1), 4899–4901. https://doi.org/10.1182/blood-2022-166881
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Wei, S., D’Alton, M., Levy, B., & Williams, Z. (2022). THE SUCCESSFUL DEVELOPMENT AND CLINICAL VALIDATION OF STORK, A RAPID ANEUPLOIDY DETECTION METHOD USING NANOPORE SEQUENCING. Fertility and Sterility, 118(4), e76. https://doi.org/10.1016/j.fertnstert.2022.08.234
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Wu, C.-H. W., Lim, T. Y., Wang, C., Seltzsam, S., Zheng, B., Schierbaum, L., Schneider, S., Mann, N., Connaughton, D. M., Nakayama, M., van der Ven, A. T., Dai, R., Kolvenbach, C. M., Kause, F., Ottlewski, I., Stajic, N., Soliman, N. A., Kari, J. A., El Desoky, S., … Hildebrandt, F. (2022). Copy Number Variation Analysis Facilitates Identification of Genetic Causation in Patients with Congenital Anomalies of the Kidney and Urinary Tract. European Urology Open Science, 44, 106–112. https://doi.org/10.1016/j.euros.2022.08.004
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Jorgensen, K., Nitecki, R., Nichols, H., Fu, S., Wu, C.-F., Melamed, A., Brady, P., Gregor, M. C.-M., Clapp, M., Giordano, S., & Rauh-Hain, J. A. (2022). 2022-RA-848-ESGO Obstetric and neonatal outcomes after breast cancer: a population-based study. Fertility/Pregnancy, A176.1-A176. https://doi.org/10.1136/ijgc-2022-esgo.376
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Ahn, J., Lee, J., Kim, D.-H., Hwang, I.-S., Park, M.-R., Cho, I.-C., Hwang, S., & Lee, K. (2022). Loss of Monoallelic Expression of IGF2 in the Adult Liver Via Alternative Promoter Usage and Chromatin Reorganization. Frontiers in Genetics, 13. https://doi.org/10.3389/fgene.2022.920641
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Dar, P., Jacobsson, B., MacPherson, C., Egbert, M., Malone, F., Wapner, R. J., Roman, A. S., Khalil, A., Faro, R., Madankumar, R., Edwards, L., Haeri, S., Silver, R., Vohra, N., Hyett, J., Clunie, G., Demko, Z., Martin, K., Rabinowitz, M., … Norton, M. E. (2022). 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, 227(2), 259.e1-259.e14. https://doi.org/10.1016/j.ajog.2022.01.019
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Dhombres, F., Morgan, P., Chaudhari, B. P., Filges, I., Sparks, T. N., Lapunzina, P., Roscioli, T., Agarwal, U., Aggarwal, S., Beneteau, C., Cacheiro, P., Carmody, L. C., Collardeau‐Frachon, S., Dempsey, E. A., Dufke, A., Duyzend, M. H., el Ghosh, M., Giordano, J. L., Glad, R., … Robinson, P. N. (2022). Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 190(2), 231–242. Portico. https://doi.org/10.1002/ajmg.c.31989
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Kukafka, R., Pan, S., Silverman, T., Zhang, T., Chung, W. K., Terry, M. B., Fleck, E., Younge, R. G., Trivedi, M. S., McGuinness, J. E., He, T., Dimond, J., & Crew, K. D. (2022). Patient and Clinician Decision Support to Increase Genetic Counseling for Hereditary Breast and Ovarian Cancer Syndrome in Primary Care. JAMA Network Open, 5(7), e2222092. https://doi.org/10.1001/jamanetworkopen.2022.22092
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Wynn, J., Tavakoli, N. P., Armstrong, N., Gomez, J., Koval, C., Lai, C., Tang, S., Quevedo Prince, A., Quevedo, Y., Rufino, K., Palacio Morales, L., Pena, A., Grossman, S., Monfiletto, M., Ruda, E., Jimenez, V., Verdade, L., Jones, A., Barriga, M. G., … Gruber, D. (2022). Improving Recruitment for a Newborn Screening Pilot Study with Adaptations in Response to the COVID-19 Pandemic. International Journal of Neonatal Screening, 8(2), 23. https://doi.org/10.3390/ijns8020023
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Sahajpal, N., Rodriguez, V., Kanyo, L., Stence, A., Skinner, S., Iqbal, A., Awayda, K., Levy, B., Broeckel, U., Scharer, G., Hackman, J., Mondal, A., Bossler, A., Nagy, P., & Kolhe, R. (2022). eP391: Optical genome mapping for constitutional postnatal SV, CNV, and repeat array sizing: A multi-site clinical study. Genetics in Medicine, 24(3), S246–S247. https://doi.org/10.1016/j.gim.2022.01.426
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Kumar, A., Im, K., Banjevic, M., Ng, P. C., Tunstall, T., Garcia, G., Galhardo, L., Sun, J., Schaedel, O. N., Levy, B., Hongo, D., Kijacic, D., Kiehl, M., Tran, N. D., Klatsky, P. C., & Rabinowitz, M. (2022). Whole-genome risk prediction of common diseases in human preimplantation embryos. Nature Medicine, 28(3), 513–516. https://doi.org/10.1038/s41591-022-01735-0
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Dar, P., Jacobsson, B., Clifton, R., Egbert, M., Malone, F., Wapner, R. J., Roman, A. S., Khalil, A., Faro, R., Madankumar, R., Edwards, L., Strong, N., Haeri, S., Silver, R., Vohra, N., Hyett, J., Demko, Z., Martin, K., Rabinowitz, M., … Norton, M. E. (2022). Cell-free DNA screening for prenatal detection of 22q11.2 deletion syndrome. American Journal of Obstetrics and Gynecology, 227(1), 79.e1-79.e11. https://doi.org/10.1016/j.ajog.2022.01.002
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Dar, P., MacPherson, C., Jacobsson, B., Egbert, M., Malone, F. D., Wapner, R. J., Roman, A. S., Khalil, A., Faro, R., Madankumar, R., Edwards, L., Strong, N., Haeri, S., Silver, R. M., Vohra, N., Hyett, J., Clifton, R., Kao, C., Martin, K., … Norton, M. E. (2022). cfDNA prenatal screening for Cri-Du-Chat, Prader-Willi/Angelman and 1p36del syndromes in 10,971 pregnancies with genetic confirmation. American Journal of Obstetrics and Gynecology, 226(1), S526–S527. https://doi.org/10.1016/j.ajog.2021.11.868
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