Sökning: onr:"swepub:oai:gup.ub.gu.se/337256" > Prenatal vs postnat...
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000 | 06473naa a2201081 4500 | |
001 | oai:gup.ub.gu.se/337256 | |
003 | SwePub | |
008 | 240910s2024 | |||||||||||000 ||eng| | |
024 | 7 | a https://gup.ub.gu.se/publication/3372562 URI |
024 | 7 | a https://doi.org/10.1016/j.ajog.2023.09.0052 DOI |
040 | a (SwePub)gu | |
041 | a eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Freud, Lindsay R.4 aut |
245 | 1 0 | a Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age |
264 | 1 | c 2024 |
520 | a Background: The 22q11.2 deletion syndrome is the most common microdeletion syndrome and is frequently associated with congenital heart disease. Prenatal diagnosis of 22q11.2 deletion syndrome is increasingly offered. It is unknown whether there is a clinical benefit to prenatal detection as compared with postnatal diagnosis. Objective: This study aimed to determine differences in perinatal and infant outcomes between patients with prenatal and postnatal diagnosis of 22q11.2 deletion syndrome. Study Design: This was a retrospective cohort study across multiple international centers (30 sites, 4 continents) from 2006 to 2019. Participants were fetuses, neonates, or infants with a genetic diagnosis of 22q11.2 deletion syndrome by 1 year of age with or without congenital heart disease; those with prenatal diagnosis or suspicion (suggestive ultrasound findings and/or high-risk cell-free fetal DNA screen for 22q11.2 deletion syndrome with postnatal confirmation) were compared with those with postnatal diagnosis. Perinatal management, cardiac and noncardiac morbidity, and mortality by 1 year were assessed. Outcomes were adjusted for presence of critical congenital heart disease, gestational age at birth, and site. Results: A total of 625 fetuses, neonates, or infants with 22q11.2 deletion syndrome (53.4% male) were included: 259 fetuses were prenatally diagnosed (156 [60.2%] were live-born) and 122 neonates were prenatally suspected with postnatal confirmation, whereas 244 infants were postnatally diagnosed. In the live-born cohort (n=522), 1-year mortality was 5.9%, which did not differ between groups but differed by the presence of critical congenital heart disease (hazard ratio, 4.18; 95% confidence interval, 1.56–11.18; P<.001) and gestational age at birth (hazard ratio, 0.78 per week; 95% confidence interval, 0.69–0.89; P<.001). Adjusting for critical congenital heart disease and gestational age at birth, the prenatal cohort was less likely to deliver at a local community hospital (5.1% vs 38.2%; odds ratio, 0.11; 95% confidence interval, 0.06–0.23; P<.001), experience neonatal cardiac decompensation (1.3% vs 5.0%; odds ratio, 0.11; 95% confidence interval, 0.03–0.49; P=.004), or have failure to thrive by 1 year (43.4% vs 50.3%; odds ratio, 0.58; 95% confidence interval, 0.36–0.91; P=.019). Conclusion: Prenatal detection of 22q11.2 deletion syndrome was associated with improved delivery management and less cardiac and noncardiac morbidity, but not mortality, compared with postnatal detection. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Pediatrics0 (SwePub)302212 hsv//eng |
653 | a 22q11.2 deletion syndrome | |
653 | a congenital heart disease | |
653 | a genetic syndrome | |
653 | a infant morbidity | |
653 | a infant mortality | |
653 | a perinatal outcome | |
653 | a prenatal diagnosis | |
700 | 1 | a Galloway, Stephanie4 aut |
700 | 1 | a Crowley, T. Blaine4 aut |
700 | 1 | a Moldenhauer, Julie4 aut |
700 | 1 | a Swillen, Ann4 aut |
700 | 1 | a Breckpot, Jeroen4 aut |
700 | 1 | a Borrell, Antoni4 aut |
700 | 1 | a Vora, Neeta L.4 aut |
700 | 1 | a Cuneo, Bettina4 aut |
700 | 1 | a Hoffman, Hilary4 aut |
700 | 1 | a Gilbert, Lisa4 aut |
700 | 1 | a Nowakowska, Beata4 aut |
700 | 1 | a Geremek, Maciej4 aut |
700 | 1 | a Kutkowska-Kaźmierczak, Anna4 aut |
700 | 1 | a Vermeesch, Joris R.4 aut |
700 | 1 | a Devriendt, Koen4 aut |
700 | 1 | a Busa, Tiffany4 aut |
700 | 1 | a Sigaudy, Sabine4 aut |
700 | 1 | a Vigneswaran, Trisha4 aut |
700 | 1 | a Simpson, John M.4 aut |
700 | 1 | a Dungan, Jeffrey4 aut |
700 | 1 | a Gotteiner, Nina4 aut |
700 | 1 | a Gloning, Karl Philipp4 aut |
700 | 1 | a Digilio, Maria Cristina4 aut |
700 | 1 | a Unolt, Marta4 aut |
700 | 1 | a Putotto, Carolina4 aut |
700 | 1 | a Marino, Bruno4 aut |
700 | 1 | a Repetto, Gabriela4 aut |
700 | 1 | a Fadic, Magdalena4 aut |
700 | 1 | a Garcia-Minaur, Sixto4 aut |
700 | 1 | a Achón Buil, Ana4 aut |
700 | 1 | a Thomas, Mary Ann4 aut |
700 | 1 | a Fruitman, Deborah4 aut |
700 | 1 | a Beecroft, Taylor4 aut |
700 | 1 | a Hui, Pui Wah4 aut |
700 | 1 | a Oskarsdottir, Solveig,d 1953u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics4 aut0 (Swepub:gu)xoskso |
700 | 1 | a Bradshaw, Rachael4 aut |
700 | 1 | a Criebaum, Amanda4 aut |
700 | 1 | a Norton, Mary E.4 aut |
700 | 1 | a Lee, Tiffany4 aut |
700 | 1 | a Geiger, Miwa4 aut |
700 | 1 | a Dunnington, Leslie4 aut |
700 | 1 | a Isaac, Jacqueline4 aut |
700 | 1 | a Wilkins-Haug, Louise4 aut |
700 | 1 | a Hunter, Lindsey4 aut |
700 | 1 | a Izzi, Claudia4 aut |
700 | 1 | a Toscano, Marika4 aut |
700 | 1 | a Ghi, Tullio4 aut |
700 | 1 | a McGlynn, Julie4 aut |
700 | 1 | a Romana Grati, Francesca4 aut |
700 | 1 | a Emanuel, Beverly S.4 aut |
700 | 1 | a Gaiser, Kimberly4 aut |
700 | 1 | a Gaynor, J. William4 aut |
700 | 1 | a Goldmuntz, Elizabeth4 aut |
700 | 1 | a McGinn, Daniel E.4 aut |
700 | 1 | a Schindewolf, Erica4 aut |
700 | 1 | a Tran, Oanh4 aut |
700 | 1 | a Zackai, Elaine H.4 aut |
700 | 1 | a Yan, Qi4 aut |
700 | 1 | a Bassett, Anne S.4 aut |
700 | 1 | a Wapner, Ronald4 aut |
700 | 1 | a McDonald-McGinn, Donna M.4 aut |
710 | 2 | a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org |
773 | 0 | t American Journal of Obstetrics and Gynecologyg 230:3q 230:3x 0002-9378x 1097-6868 |
856 | 4 8 | u https://gup.ub.gu.se/publication/337256 |
856 | 4 8 | u https://doi.org/10.1016/j.ajog.2023.09.005 |
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