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Impact of high-risk...
Impact of high-risk prenatal screening results for 22q11.2 deletion syndrome on obstetric and neonatal management: Secondary analysis from the SMART study
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Martin, Kimberly (author)
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Norton, Mary E. (author)
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MacPherson, Cora (author)
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Demko, Zachary (author)
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Egbert, Melissa (author)
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Haeri, Sina (author)
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Malone, Fergal (author)
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Wapner, Ronald J. (author)
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Roman, Ashley S. (author)
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Khalil, Asma (author)
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Faro, Revital (author)
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Madankumar, Rajeevi (author)
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Strong, Noel (author)
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Silver, Robert (author)
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Vohra, Nidhi (author)
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Hyett, Jon (author)
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Kao, Charlly (author)
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Hakonarson, Hakon (author)
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- Jacobsson, Bo, 1960 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för obstetrik och gynekologi,Institute of Clinical Sciences, Department of Obstetrics and Gynecology
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Dar, Pe'er (author)
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(creator_code:org_t)
- 2023
- 2023
- English.
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In: Prenatal Diagnosis. - 0197-3851 .- 1097-0223. ; 43:13, s. 1574-1580
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Abstract
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- Objective: One goal of prenatal genetic screening is to optimize perinatal care and improve infant outcomes. We sought to determine whether high-risk cfDNA screening for 22q11.2 deletion syndrome (22q11.2DS) affected prenatal or neonatal management. Methods: This was a secondary analysis from the SMART study. Patients with high-risk cfDNA results for 22q11.2DS were compared with the low-risk cohort for pregnancy characteristics and obstetrical management. To assess differences in neonatal care, we compared high-risk neonates without prenatal genetic confirmation with a 1:1 matched low-risk cohort. Results: Of 18,020 eligible participants enrolled between 2015 and 2019, 38 (0.21%) were high-risk and 17,982 (99.79%) were low-risk for 22q11.2DS by cfDNA screening. High-risk participants had more prenatal diagnostic testing (55.3%; 21/38 vs. 2.0%; 352/17,982, p<0.001) and fetal echocardiography (76.9%; 10/13 vs. 19.6%; 10/51, p<0.001). High-risk newborns without prenatal diagnostic testing had higher rates of neonatal genetic testing (46.2%; 6/13 vs. 0%; 0/51, P<0.001), echocardiography (30.8%; 4/13 vs. 4.0%; 2/50, p=0.013), evaluation of calcium levels (46.2%; 6/13 vs. 4.1%; 2/49, P<0.001) and lymphocyte count (53.8%; 7/13 vs. 15.7%; 8/51, p=0.008). Conclusions: High-risk screening results for 22q11.2DS were associated with higher rates of prenatal and neonatal diagnostic genetic testing and other 22q11.2DS-specific evaluations. However, these interventions were not universally performed, and >50% of high-risk infants were discharged without genetic testing, representing possible missed opportunities to improve outcomes for affected individuals.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Reproduktionsmedicin och gynekologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Obstetrics, Gynaecology and Reproductive Medicine (hsv//eng)
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- art (subject category)
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- By the author/editor
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Martin, Kimberly
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Norton, Mary E.
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MacPherson, Cora
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Demko, Zachary
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Egbert, Melissa
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Haeri, Sina
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show more...
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Malone, Fergal
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Wapner, Ronald J ...
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Roman, Ashley S.
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Khalil, Asma
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Faro, Revital
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Madankumar, Raje ...
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Strong, Noel
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Silver, Robert
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Vohra, Nidhi
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Hyett, Jon
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Kao, Charlly
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Hakonarson, Hako ...
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Jacobsson, Bo, 1 ...
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Dar, Pe'er
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Obstetrics Gynae ...
- Articles in the publication
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Prenatal Diagnos ...
- By the university
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University of Gothenburg