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1. Newborn screening for neurodevelopmental diseases: Are we there yet?

Author

Chung, Wendy K, Berg, Jonathan S, Botkin, Jeffrey R, Brenner, Steven E, Brosco, Jeffrey P, Brothers, Kyle B, Currier, Robert J, Gaviglio, Amy, Kowtoniuk, Walter E, Olson, Colleen, Lloyd‐Puryear, Michele, Saarinen, Annamarie, Sahin, Mustafa, Shen, Yufeng, Sherr, Elliott H, Watson, Michael S, and Hu, Zhanzhi

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Infant Mortality, Prevention, Intellectual and Developmental Disabilities (IDD), Pediatric Research Initiative, Perinatal Period - Conditions Originating in Perinatal Period, Pediatric, Reproductive health and childbirth, Good Health and Well Being, Infant, Infant, Newborn, Humans, Neonatal Screening, Pilot Projects, Neurodevelopmental Disorders, Parents, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

In the US, newborn screening (NBS) is a unique health program that supports health equity and screens virtually every baby after birth, and has brought timely treatments to babies since the 1960's. With the decreasing cost of sequencing and the improving methods to interpret genetic data, there is an opportunity to add DNA sequencing as a screening method to facilitate the identification of babies with treatable conditions that cannot be identified in any other scalable way, including highly penetrant genetic neurodevelopmental disorders (NDD). However, the lack of effective dietary or drug-based treatments has made it nearly impossible to consider NDDs in the current NBS framework, yet it is anticipated that any treatment will be maximally effective if started early. Hence there is a critical need for large scale pilot studies to assess if and how NDDs can be effectively screened at birth, if parents desire that information, and what impact early diagnosis may have. Here we attempt to provide an overview of the recent advances in NDD treatments, explore the possible framework of setting up a pilot study to genetically screen for NDDs, highlight key technical, practical, and ethical considerations and challenges, and examine the policy and health system implications.

Published
2022

2. Inadequacies of hospital-level critical congenital heart disease screening data reports: implications for research and quality efforts

Author

Siefkes, Heather, Kair, Laura R, Saarinen, Annamarie, and Lakshminrusimha, Satyan

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Pediatric, Congenital Structural Anomalies, Congenital Heart Disease, Cardiovascular, Heart Disease, Rare Diseases, 4.4 Population screening, Good Health and Well Being, Heart Defects, Congenital, Hospitals, Humans, Infant, Newborn, Neonatal Screening, Oximetry, Reproducibility of Results, Retrospective Studies, Clinical Sciences, Paediatrics and Reproductive Medicine, Pediatrics, Paediatrics
Abstract

ObjectiveAssess the quality of critical congenital heart disease (CCHD) screening data reports in California, where CCHD screening is not mandatory but reporting is.Study designRetrospective review of California hospital-level CCHD screening data to evaluate data reliability and adherence to state screening and reporting recommendations. Data were evaluated for internal consistency and compared to two databases.ResultsOver one-third of hospitals did not submit data. Only 70.7% of the Vital Records live births were reported in CCHD screening data. Only 46% of reporting hospitals submitted data with matching numbers of completed screens and results, and 22% matched their respective live births in a second database.ConclusionCCHD data reporting in California is incomplete, which may miss 359 CCHD cases/year from non-reporting. Data inconsistencies may miss additional cases. Mandatory screening, reporting, and improvements in data reliability are urgently needed to inform screening modifications and enhance timely detection and disease surveillance.

Published
2021

4. Inadequacies of hospital-level critical congenital heart disease screening data reports: implications for research and quality efforts

Author

Siefkes, Heather, Kair, Laura R., Saarinen, Annamarie, and Lakshminrusimha, Satyan

Abstract

Objective: Assess the quality of critical congenital heart disease (CCHD) screening data reports in California, where CCHD screening is not mandatory but reporting is. Study design: Retrospective review of California hospital-level CCHD screening data to evaluate data reliability and adherence to state screening and reporting recommendations. Data were evaluated for internal consistency and compared to two databases. Results: Over one-third of hospitals did not submit data. Only 70.7% of the Vital Records live births were reported in CCHD screening data. Only 46% of reporting hospitals submitted data with matching numbers of completed screens and results, and 22% matched their respective live births in a second database. Conclusion: CCHD data reporting in California is incomplete, which may miss 359 CCHD cases/year from non-reporting. Data inconsistencies may miss additional cases. Mandatory screening, reporting, and improvements in data reliability are urgently needed to inform screening modifications and enhance timely detection and disease surveillance.

Published
2024
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6. The Predictive Power of Concurrent Pulse Oximetry Readings in the Detection of Congenital Heart Defects in Newborns of the Hospital of Specialties of Children and Woman in Queretaro, Mexico

Author

San Roman Orozco, Oscar, primary, Nkemdirim, Wiliam, additional, Gutierrez Alvarez, Isidro, additional, Saarinen, Annamarie, additional, Zanella, Enzo, additional, Muñoz, Juan, additional, Ledesma, Patricia, additional, Guzman, L Alejandra, additional, and Perez, Brenda, additional

Published
2020
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10. Databases for Congenital Heart Defect Public Health Studies Across the Lifespan

Author

Riehle‐Colarusso, Tiffany J., primary, Bergersen, Lisa, additional, Broberg, Craig S., additional, Cassell, Cynthia H., additional, Gray, Darryl T., additional, Grosse, Scott D., additional, Jacobs, Jeffrey P., additional, Jacobs, Marshall L., additional, Kirby, Russell S., additional, Kochilas, Lazaros, additional, Krishnaswamy, Asha, additional, Marelli, Arianne, additional, Pasquali, Sara K., additional, Wood, Thalia, additional, Oster, Matthew E., additional, Abarbanell, Ginnie Lee, additional, Adams, Faith, additional, Allen, Steven W., additional, Allen, Sydney, additional, Ambrose, Anand, additional, Backer, Carl Lewis, additional, Baer, Andrea, additional, Baker‐Smith, Carissa Marie, additional, Barmash, Mona, additional, Basken, Amy, additional, Bates, Cassandra, additional, Batlivala, Sarosh Percy, additional, Beekman, Robert H., additional, Belmont, John William, additional, Benke, Joshua, additional, Berger, Stuart, additional, Bockerstette, JR, additional, Boris, Jeffrey R., additional, Botto, Lorenzo, additional, Boucher, Jackie, additional, Hageman, Dana Brock, additional, Soto, Cheryl Brosig, additional, Burns, Kristin Marie, additional, Cameron, Lenore, additional, Campbell, Robert M., additional, Colan, Steven E., additional, Colegrove, Lynn, additional, Coleman, Christina, additional, Colson, Angie, additional, Correa, Adolfo, additional, Costa, Pamela, additional, Couser, Chris, additional, Crenshaw, Melissa Lynnn, additional, Crume, Tessa, additional, Daskalov, Rachel, additional, Del Monte, Mark D., additional, DeSantis, Lindsay, additional, Doherty, Kaitlin, additional, Dooley, Kenneth, additional, Duke, Charles (Wes), additional, Eghtesady, Pirooz, additional, Elayda, Saiza, additional, Ellison, Alison, additional, Elsner, Tim, additional, Erntz, Cori, additional, Esquivel, Michelle Z., additional, Evans, Bethany, additional, Feit, Lloyd Robert, additional, Feldkamp, Marcia, additional, Foley, William, additional, Foster, Elyse, additional, Franklin, Wayne, additional, Freeley, Bridget, additional, Galioto, Frank M., additional, George, Mary, additional, Gewitz, Michael H., additional, Gist, Katja Michelle, additional, Glenn, Thomas, additional, Glidewell, Melissa (Jill), additional, Gore, Lorraine A., additional, Gray, Johanna, additional, Green, Hannah, additional, Gurvitz, Michelle Z., additional, Handa, Sonia, additional, Harvey, Melissa, additional, Heath, Emilie, additional, Hile, Danielle, additional, Hokanson, John Smith, additional, Honein, Margaret (Peggy), additional, Hubbell, Marius M., additional, Hudson, Jeff, additional, Huhn, Kelly, additional, Ilardi, Dawn, additional, Jacobs, Dawn C., additional, Jaquiss, Robert Douglas Benjamin, additional, Jenkins, Kathy J., additional, John, Anitha, additional, Johnson, Patrick, additional, Johnson, Shakila, additional, Jones, Emily, additional, Jossif, Antonios P., additional, Kaltman, Jonathan Ross, additional, Kasnic, David, additional, Kemper, Alex R., additional, Kenny, Natalie, additional, Khairy, Paul, additional, King, Valerie, additional, Knapp, Donna, additional, Kobayashi, Daisuke, additional, Kovacs, Adrienne, additional, Kucik, James, additional, Kuehl, Karen S., additional, Kuznetsov, Alexandra, additional, Leezer, Scott, additional, Lemacks, Jodi, additional, Libby, Patty, additional, Lipkin, Paul H., additional, Lloyd‐Puryear, Michele Ann, additional, Lopez, Keila Natilde, additional, Madsen, Nicolas L., additional, Mai, Cara, additional, Mann, Monica, additional, Marino, Bradley, additional, Martin, Gerard Robert, additional, Paul Matherne, G., additional, Mauller, Phillip, additional, May, Susan, additional, McCabe, Edward R. B., additional, McCabe, Nancy, additional, McCardle, Michelle, additional, McCathran, Ty, additional, McCathran, Amy, additional, McConnell, Michael E., additional, McCormick, Kristine Brite, additional, Melsom, Eric, additional, Milionis, William Kelly, additional, Miller, Paula, additional, Miller, Erika, additional, Mitchell, Stephanie, additional, Moore, Cynthia A., additional, Morris, Laura, additional, Murray, Angela, additional, Mussatto, Kathleen, additional, Neish, Steven R., additional, Nelson, Sue, additional, Newburger, Jane W., additional, Nicolarsen, Jeremy, additional, Niggles, Autumn, additional, Noonan, Jacqueline Anne, additional, Ober, Gail, additional, O'Keefe, Lori, additional, Overcash, Marc, additional, Page, Jennifer, additional, Park, Matthew Vaughn, additional, Patel, Mehul D., additional, Patel, Jasmin, additional, Pearson, Gail Denise, additional, Pellegrini, Cindy, additional, Pierce, Corrie, additional, Pinto, Nelangi M., additional, Polen, Kara, additional, Quinones, Jose Alcides, additional, Raimondi, Carol, additional, Richter, Pat, additional, Rintamaki, Michelle, additional, Robles, Elisa, additional, Rosenthal, Geoffrey L., additional, Rush, Grahame, additional, Russell, Laura, additional, Saarinen, Annamarie, additional, Sable, Craig Andrew, additional, Saltz, Joel, additional, Schaefer, Terri, additional, Schubert, Kathryn, additional, Schwartz, Vida, additional, Shapira, Stuart K., additional, Sheehan, Kathleen, additional, Silverman, Brenda, additional, Simeone, Regina, additional, Smith, Juanita, additional, Smith, Kimberly E., additional, Smith, Kristina, additional, Sontag, Marci, additional, Srivastava, Shubhika, additional, Stassen, Corrie, additional, Stiver, Corey, additional, Taubert, Kathryn, additional, Thibadeau, Judy, additional, Thomas, John P., additional, Thomas, Dena, additional, Thorne, Vivian Baldassari, additional, Tiernan, Linda, additional, Timmins, Susan, additional, Tiner, Colby, additional, Torentinos, Natalie, additional, Tringali, Glenn, additional, Tweddell, James S., additional, Vasquez, Lisa M., additional, Verstappen, Amy, additional, Ware, Janice, additional, Watkins, Caron, additional, Webb, Catherine L., additional, Weiss, Ellen, additional, Weiss, Marina, additional, Wernovsky, Gil, additional, Whitehurst, Gretchen, additional, Whitley, Herbert, additional, Witten, Jennifer, additional, Wong, Austin Henry, additional, Wright, Matthew, additional, Wynbrant, Robert, additional, and Zheleva, Bistra, additional

Published
2016
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