XVII Congresso Mineiro de Ginecologia e Obstetrícia
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1º Dia - 9/10/25
2º Dia - 9/11/25
3º Dia - 9/12/25
4º Dia - 9/13/25

Doenças Raras, Diagnóstico, Teste do pezinho - Salvando Théos que virão Voltar

Larissa Carvalho

CONFERêNCIA DE ABERTURA - Presidente: Angélica Lemos Debs Diniz

Artigo Autor(es) Referência
ACOG Committee Opinion No. 778: Newborn Screening and the Role of the Obstetrician-Gynecologist. Sem autores Obstetrics and gynecology. 2019 May; 133(May):e357-e361. doi: 10.1097/AOG.0000000000003245. pii: .
Advances in Newborn Screening. Powell Cynthia M Pediatric clinics of North America. 2025 Aug; 72(Aug):759-772. doi: 10.1016/j.pcl.2025.04.005. pii: S0031-3955(25)00047-1.
First-Tier Versus Last-Tier Trio Whole-Genome Sequencing for the Diagnosis of Pediatric-Onset Rare Diseases. Lucca Camilla, Rosina Erica, Pezzani Lidia, Piazzolla Daniela, Spaccini Luigina, Scatigno Agnese, Gasperini Serena, Pezzoli Laura, Cereda Anna, Milani Donatella, Cattaneo Elisa, Cavallari Ugo, Frigeni Marco, Marchetti Daniela, Daolio Cecilia, Giordano Laura, Bellini Matteo, Goisis Lucrezia, Mongodi Chiara, Tonduti Davide, Pilotta Alba, Cazzaniga Giovanni, Furlan Francesca, Bedeschi Maria Francesca, Mangili Giovanna, Bonanomi Ezio, Iascone Maria Clinical genetics. 2025 Apr; doi: 10.1111/cge.14760. pii: .
Genomic newborn screening for rare diseases. Stark Zornitza, Scott Richard H Nature reviews. Genetics. 2023 Nov; 24(Nov):755-766. doi: 10.1038/s41576-023-00621-w. pii: .
Nascer no Brasil: continuity of care during pregnancy and postpartum period for women and newborns. Bittencourt Sonia Duarte de Azevedo, Cunha Elenice Machado, Domingues Rosa Maria Soares Madeira, Dias Barbara Almeida Soares, Dias Marcos Augusto Bastos, Torres Jacqueline Alves, Leal Maria do Carmo Revista de saude publica. 2020 ; 54():100. doi: 10.11606/s1518-8787.2020054002021. pii: 100.
Neonatal screening for congenital hypothyroidism: 28-year experience in the state of Minas Gerais, Brazil. Braga Nathalia Teixeira Palla, Alves Debora Patrícia da Silva Sousa, Colosimo Enrico Antônio, Dias Vera Maria Alves, Januário José Nélio, Silva Ivani Novato Jornal de pediatria. 2025 ; 101():430-437. doi: 10.1016/j.jped.2024.12.007. pii: S0021-7557(25)00023-3.
Newborn screening for congenital hypothyroidism: worldwide coverage 50 years after its start. Arrigoni Marta, Zwaveling-Soonawala Nitash, LaFranchi Stephen H, van Trotsenburg A S Paul, Mooij Christiaan F European thyroid journal. 2025 Feb; 14(Feb):doi: 10.1530/ETJ-24-0327. pii: e240327.
Newborn screening in Brazil: realities and challenges. de Souza Carolina Fischinger Moura, Tonon Tássia, Silva Thiago Oliveira, Bachega Tania A S S Journal of community genetics. 2025 Aug; 16(Aug):431-438. doi: 10.1007/s12687-024-00762-3. pii: .
Newborn screening: from Guthrie to whole genome sequencing. Caggana Michele, Jones Elizabeth A, Shahied S I, Tanksley Susan, Hermerath Cheryl A, Lubin Ira M Public health reports (Washington, D.C. : 1974). 2013 ; 128 Suppl 2():14-9.
Opportunities and challenges for newborn screening and early diagnosis of rare diseases in Latin America. Giugliani Roberto, Castillo Taucher Silvia, Hafez Sylvia, Oliveira Joao Bosco, Rico-Restrepo Mariana, Rozenfeld Paula, Zarante Ignacio, Gonzaga-Jauregui Claudia Frontiers in genetics. 2022 ; 13():1053559. doi: 10.3389/fgene.2022.1053559. pii: 1053559.
Primary care role in expanded newborn screening: After the heel prick test. Hayeems Robin Z, Miller Fiona A, Carroll June C, Little Julian, Allanson Judith, Bytautas Jessica P, Chakraborty Pranesh, Wilson Brenda J Canadian family physician Medecin de famille canadien. 2013 Aug; 59(Aug):861-8.
The new newborn screening. Chung Wendy K Nature medicine. 2025 Apr; 31(Apr):1075-1076. doi: 10.1038/s41591-025-03567-0. pii: .
Nenhuma revista foi definida para este congresso.