Prenatal Diagnosis

Displaying 1 - 17 of 17
Liao, J., Xu, N., Gao, H., Hardy, T., Levy, B., Mehta, L., Choy, K. W., Huang, H., & Zhang, J. (2025). Advances in Prenatal Cell‐Free DNA Screening for Dominant Monogenic Conditions: A Review of Current Progress and Future Directions in Clinical Implementation. Prenatal Diagnosis. Portico. https://doi.org/10.1002/pd.6752
Publication Date
Reilly, K., Sonner, S., McCay, N., Rolnik, D. L., Casey, F., Seale, A. N., Watson, C. J., Kan, A., Lai, T. H. T., Chung, B. H. Y., Diderich, K. E. M., Srebniak, M. I., Dempsey, E., Drury, S., Giordano, J., Wapner, R., Kilby, M. D., Chitty, L. S., & Mone, F. (2024). The incremental yield of prenatal exome sequencing over chromosome microarray for congenital heart abnormalities: A systematic review and meta‐analysis. Prenatal Diagnosis, 44(6–7), 821–831. Portico. https://doi.org/10.1002/pd.6581
Publication Date
Schmoke, N., Nemeh, C., Wu, Y. S., Wilken, T., Wang, P., Kurlansky, P., Maddocks, A., Nhan‐Chang, C., Miller, R., Simpson, L. L., & Duron, V. (2024). Management of fetal head and neck masses: Evaluation of prenatal factors associated with airway obstruction and decision for definitive airway and ex‐utero intrapartum treatment at birth. Prenatal Diagnosis. Portico. https://doi.org/10.1002/pd.6586
Publication Date
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
Publication Date
Brar, B. K., Blakemore, K., Hertenstein, C., Miller, J. L., Miller, K. A., Shamseldin, H., Maddirevula, S., Hays, T., Lianoglou, B., Dukhovny, S., Baker, L. A., Sparks, T. N., Wapner, R., Alkuraya, F. S., Norton, M. E., & Jelin, A. C. (2023). The utility of gene sequencing in identifying an underlying genetic disorder in prenatally suspected lower urinary tract obstruction. Prenatal Diagnosis, 44(2), 196–204. Portico. https://doi.org/10.1002/pd.6425
Publication Date
Zhao, E., Bomback, M., Khan, A., Krishna Murthy, S., Solowiejczyk, D., Vora, N. L., Gilmore, K. L., Giordano, J. L., Wapner, R. J., Sanna‐Cherchi, S., Lyford, A., Jelin, A. C., Gharavi, A. G., & Hays, T. (2024). The expanded spectrum of human disease associated with GREB1L likely includes complex congenital heart disease. Prenatal Diagnosis, 44(3), 343–351. Portico. https://doi.org/10.1002/pd.6527
Publication Date
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
Publication Date
Pandya, P., Levy, B., & Sistermans, E. A. (2023). Current controversies in prenatal diagnosis: Noninvasive prenatal testing should replace other screening strategies for fetal trisomies 13, 18, 21. Prenatal Diagnosis, 44(4), 381–388. Portico. https://doi.org/10.1002/pd.6477
Publication Date
Martin, K., Norton, M. E., MacPherson, C., Demko, Z., Egbert, M., Haeri, S., Malone, F., Wapner, R. J., Roman, A. S., Khalil, A., Faro, R., Madankumar, R., Strong, N., Silver, R., Vohra, N., Hyett, J., Kao, C., Hakonarson, H., Jacobson, B., & Dar, P. (2023). Impact of high‐risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study. Prenatal Diagnosis, 43(13), 1574–1580. Portico. https://doi.org/10.1002/pd.6483
Publication Date
Juergensen, S., Liu, J., Xu, D., Zhao, Y., Moon‐Grady, A. J., Glenn, O., McQuillen, P., & Peyvandi, S. (2023). Fetal circulatory physiology and brain development in complex congenital heart disease: A multi‐modal imaging study. Prenatal Diagnosis, 44(6–7), 856–864. Portico. https://doi.org/10.1002/pd.6450
Publication Date
Rogerson, D., Alkelai, A., Giordano, J., Pantrangi, M., Hsiao, M., Nhan‐Chang, C., Motelow, J. E., Aggarwal, V., Goldstein, D., Wapner, R., & Shawber, C. J. (2023). Investigation into the genetics of fetal congenital lymphatic anomalies. Prenatal Diagnosis, 43(6), 703–716. Portico. https://doi.org/10.1002/pd.6345
Publication Date
Brar, B. K., Thompson, M. G., Vora, N. L., Gilmore, K., Blakemore, K., Miller, K. A., Giordano, J., Dufke, A., Wong, B., Stover, S., Lianoglou, B., Van den Veyver, I., Dempsey, E., Rosner, M., Chong, K., Chitayat, D., Sparks, T. N., Norton, M. E., … Wapner, R. (2022). Prenatal phenotyping of fetal tubulinopathies: A multicenter retrospective case series. Prenatal Diagnosis, 42(13), 1686–1693. Portico. https://doi.org/10.1002/pd.6269
Publication Date
Kernie, C. G., Wynn, J., Rosenbaum, A., de Voest, J., Galloway, S., Giordano, J., Stover, S., Westerfield, L., Gilmore, K., Wapner, R. J., Van den Veyver, I. B., Vora, N. L., Clifton, R. G., Caughey, A. B., & Chung, W. K. (2022). Information is power: The experiences, attitudes and needs of individuals who chose to have prenatal genomic sequencing for fetal anomalies. Prenatal Diagnosis, 42(7), 947–954. Portico. https://doi.org/10.1002/pd.6153
Publication Date
Van den Veyver, I. B., Chandler, N., Wilkins‐Haug, L. E., Wapner, R. J., & Chitty, L. S. (2022). International Society for Prenatal Diagnosis Updated Position Statement on the use of genome‐wide sequencing for prenatal diagnosis. Prenatal Diagnosis, 42(6), 796–803. Portico. https://doi.org/10.1002/pd.6157
Publication Date
Baptiste, C., Mellis, R., Aggarwal, V., Lord, J., Eberhardt, R., Kilby, M. D., Maher, E. R., Wapner, R., Giordano, J., & Chitty, L. (2022). Fetal central nervous system anomalies: When should we offer exome sequencing? Prenatal Diagnosis, 42(6), 736–743. Portico. https://doi.org/10.1002/pd.6145
Publication Date