Diamond-Blackfan Anemia: A Case Report and Review of the Literature
We report a case of a male neonate delivered urgently via cesarean at thirty-five 5/7 weeks gestation for non-reassuring fetal monitoring who was found to have severe anemia at birth that could not be explained by acute blood loss. He was born to a 24-year-old mother, whose pregnancy was complicated...
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| Veröffentlicht in: | Neonatology (Basel, Switzerland) Switzerland), 2021-08, Vol.118 (4), p.500-504 |
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| container_title | Neonatology (Basel, Switzerland) |
| container_volume | 118 |
| creator | Dorn, Kaitlyn M. Burns, Kaitlyn D. Trout, Maija A. R. Ward, D. Isum Wagner, KayeLyn J. Meyer, Lauritz R. Baack, Michelle L. Rodel, Rachel L. |
| description | We report a case of a male neonate delivered urgently via cesarean at thirty-five 5/7 weeks gestation for non-reassuring fetal monitoring who was found to have severe anemia at birth that could not be explained by acute blood loss. He was born to a 24-year-old mother, whose pregnancy was complicated by abnormal ultrasound findings, including a radial ray defect and fetal growth restriction. Trio rapid whole-exome sequencing (rWES) confirmed Diamond-Blackfan anemia in both the neonate and mother. This case highlights the importance of fetal surveillance and the clinical utility of rWES in the neonatal intensive care setting. |
| doi_str_mv | 10.1159/000516030 |
| format | Article |
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This case highlights the importance of fetal surveillance and the clinical utility of rWES in the neonatal intensive care setting.</description><subject>Anemia</subject><subject>Anemia, Diamond-Blackfan - genetics</subject><subject>Female</subject><subject>Fetus</subject><subject>Growth</subject><subject>Humans</subject><subject>Hydrops fetalis</subject><subject>Infant, Newborn</subject><subject>Infants (Newborn)</subject><subject>Male</subject><subject>Neonatal intensive care</subject><subject>Novel Insights from Clinical Practice</subject><subject>Pregnancy</subject><subject>Whole Exome Sequencing</subject><subject>Young Adult</subject><issn>1661-7800</issn><issn>1661-7819</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpt0VtLwzAUB_AgivP24LtIQRB86Dxpm6z1bc55geFA9LmcNSdbtDeSTvHbW6kWB5KHHJLf_0ByGDvmMORcJJcAILiEELbYHpeS-6OYJ9t9DTBg-869tkoIGeyyQRgBRBKCPTa5MVhUpfKvc8zeNJbeuKTC4JU39iboyHuiurKNh6Vqy3dDH16lvWZF3sw0ZLFZWzpkOxpzR0c_-wF7uZ0-T-792fzuYTKe-VkUBo2fSKFJy1jEsaYw4iiV1ogYL2QEWi6kEAmoRFKMIUajGJWIFGkhCSGONIYH7Kzru8ScUlPqqrGYFcZl6XgESQKBCHirhv-odqn2XVlVkjbt-Ubg_E9gRZg3K1fl68ZUpduEFx3MbOWcJZ3W1hRoP1MO6fcg0n4QrT3tbL1eFKR6-fvzLTjpwBvaJdke9Pmzf68fp_NOpLXS4Re3hZPo</recordid><startdate>20210801</startdate><enddate>20210801</enddate><creator>Dorn, Kaitlyn M.</creator><creator>Burns, Kaitlyn D.</creator><creator>Trout, Maija A. 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| fulltext | fulltext |
| identifier | ISSN: 1661-7800 |
| ispartof | Neonatology (Basel, Switzerland), 2021-08, Vol.118 (4), p.500-504 |
| issn | 1661-7800 1661-7819 |
| language | eng |
| recordid | cdi_crossref_primary_10_1159_000516030 |
| source | MEDLINE; Karger Journals Complete; Alma/SFX Local Collection |
| subjects | Anemia Anemia, Diamond-Blackfan - genetics Female Fetus Growth Humans Hydrops fetalis Infant, Newborn Infants (Newborn) Male Neonatal intensive care Novel Insights from Clinical Practice Pregnancy Whole Exome Sequencing Young Adult |
| title | Diamond-Blackfan Anemia: A Case Report and Review of the Literature |
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