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Sökning: id:"swepub:oai:gup.ub.gu.se/337256" > Prenatal vs postnat...

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FältnamnIndikatorerMetadata
00006473naa a2201081 4500
001oai:gup.ub.gu.se/337256
003SwePub
008240612s2024 | |||||||||||000 ||eng|
0247 a https://gup.ub.gu.se/publication/3372562 URI
0247 a https://doi.org/10.1016/j.ajog.2023.09.0052 DOI
040 a (SwePub)gu
041 a eng
042 9 SwePub
072 7a ref2 swepub-contenttype
072 7a art2 swepub-publicationtype
1001 a Freud, Lindsay R.4 aut
2451 0a Prenatal vs postnatal diagnosis of 22q11.2 deletion syndrome: cardiac and noncardiac outcomes through 1 year of age
264 1c 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 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Pediatrik0 (SwePub)302212 hsv//swe
650 7a 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
7001 a Galloway, Stephanie4 aut
7001 a Crowley, T. Blaine4 aut
7001 a Moldenhauer, Julie4 aut
7001 a Swillen, Ann4 aut
7001 a Breckpot, Jeroen4 aut
7001 a Borrell, Antoni4 aut
7001 a Vora, Neeta L.4 aut
7001 a Cuneo, Bettina4 aut
7001 a Hoffman, Hilary4 aut
7001 a Gilbert, Lisa4 aut
7001 a Nowakowska, Beata4 aut
7001 a Geremek, Maciej4 aut
7001 a Kutkowska-Kaźmierczak, Anna4 aut
7001 a Vermeesch, Joris R.4 aut
7001 a Devriendt, Koen4 aut
7001 a Busa, Tiffany4 aut
7001 a Sigaudy, Sabine4 aut
7001 a Vigneswaran, Trisha4 aut
7001 a Simpson, John M.4 aut
7001 a Dungan, Jeffrey4 aut
7001 a Gotteiner, Nina4 aut
7001 a Gloning, Karl Philipp4 aut
7001 a Digilio, Maria Cristina4 aut
7001 a Unolt, Marta4 aut
7001 a Putotto, Carolina4 aut
7001 a Marino, Bruno4 aut
7001 a Repetto, Gabriela4 aut
7001 a Fadic, Magdalena4 aut
7001 a Garcia-Minaur, Sixto4 aut
7001 a Achón Buil, Ana4 aut
7001 a Thomas, Mary Ann4 aut
7001 a Fruitman, Deborah4 aut
7001 a Beecroft, Taylor4 aut
7001 a Hui, Pui Wah4 aut
7001 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
7001 a Bradshaw, Rachael4 aut
7001 a Criebaum, Amanda4 aut
7001 a Norton, Mary E.4 aut
7001 a Lee, Tiffany4 aut
7001 a Geiger, Miwa4 aut
7001 a Dunnington, Leslie4 aut
7001 a Isaac, Jacqueline4 aut
7001 a Wilkins-Haug, Louise4 aut
7001 a Hunter, Lindsey4 aut
7001 a Izzi, Claudia4 aut
7001 a Toscano, Marika4 aut
7001 a Ghi, Tullio4 aut
7001 a McGlynn, Julie4 aut
7001 a Romana Grati, Francesca4 aut
7001 a Emanuel, Beverly S.4 aut
7001 a Gaiser, Kimberly4 aut
7001 a Gaynor, J. William4 aut
7001 a Goldmuntz, Elizabeth4 aut
7001 a McGinn, Daniel E.4 aut
7001 a Schindewolf, Erica4 aut
7001 a Tran, Oanh4 aut
7001 a Zackai, Elaine H.4 aut
7001 a Yan, Qi4 aut
7001 a Bassett, Anne S.4 aut
7001 a Wapner, Ronald4 aut
7001 a McDonald-McGinn, Donna M.4 aut
7102 a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för pediatrik4 org
7730 t American Journal of Obstetrics and Gynecologyg 230:3q 230:3x 0002-9378x 1097-6868
8564 8u https://gup.ub.gu.se/publication/337256
8564 8u https://doi.org/10.1016/j.ajog.2023.09.005

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