Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance
Newborn screening for cystic fibrosis (CF) enables early diagnosis and treatment leading to improved health outcomes for patients with CF. Although the sensitivity of newborn screening is high, false-negative results can still occur which can be misleading if clinicians are not aware of the clinical...
Saved in:
| Main Authors: | , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2018-01-01
|
| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2018/7217326 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832558335438618624 |
|---|---|
| author | F. Neemuchwala M. Taki E. Secord S. Z. Nasr |
| author_facet | F. Neemuchwala M. Taki E. Secord S. Z. Nasr |
| author_sort | F. Neemuchwala |
| collection | DOAJ |
| description | Newborn screening for cystic fibrosis (CF) enables early diagnosis and treatment leading to improved health outcomes for patients with CF. Although the sensitivity of newborn screening is high, false-negative results can still occur which can be misleading if clinicians are not aware of the clinical presentation of CF. We present a case of a young male with negative newborn screen diagnosed for CF. He was diagnosed at 3 years of age despite having symptoms indicative of CF since infancy. The delayed diagnosis resulted in diffuse lung damage and poor growth. |
| format | Article |
| id | doaj-art-a7ab331aa323448ea7ead0d0ef7ff3f9 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-a7ab331aa323448ea7ead0d0ef7ff3f92025-02-03T01:32:40ZengWileyCase Reports in Pediatrics2090-68032090-68112018-01-01201810.1155/2018/72173267217326Newborn Screening Saves Lives but Cannot Replace the Need for Clinical VigilanceF. Neemuchwala0M. Taki1E. Secord2S. Z. Nasr3Department of Pediatric Pulmonary Medicine, Michigan Medicine, Ann Arbor, MI, USADepartment of Allergy, Asthma and Immunology, Children’s Hospital of Michigan Specialty Center, Detroit, MI, USADepartment of Allergy, Asthma and Immunology, Children’s Hospital of Michigan Specialty Center, Detroit, MI, USADepartment of Pediatric Pulmonary Medicine, Michigan Medicine, Ann Arbor, MI, USANewborn screening for cystic fibrosis (CF) enables early diagnosis and treatment leading to improved health outcomes for patients with CF. Although the sensitivity of newborn screening is high, false-negative results can still occur which can be misleading if clinicians are not aware of the clinical presentation of CF. We present a case of a young male with negative newborn screen diagnosed for CF. He was diagnosed at 3 years of age despite having symptoms indicative of CF since infancy. The delayed diagnosis resulted in diffuse lung damage and poor growth.http://dx.doi.org/10.1155/2018/7217326 |
| spellingShingle | F. Neemuchwala M. Taki E. Secord S. Z. Nasr Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance Case Reports in Pediatrics |
| title | Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance |
| title_full | Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance |
| title_fullStr | Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance |
| title_full_unstemmed | Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance |
| title_short | Newborn Screening Saves Lives but Cannot Replace the Need for Clinical Vigilance |
| title_sort | newborn screening saves lives but cannot replace the need for clinical vigilance |
| url | http://dx.doi.org/10.1155/2018/7217326 |
| work_keys_str_mv | AT fneemuchwala newbornscreeningsaveslivesbutcannotreplacetheneedforclinicalvigilance AT mtaki newbornscreeningsaveslivesbutcannotreplacetheneedforclinicalvigilance AT esecord newbornscreeningsaveslivesbutcannotreplacetheneedforclinicalvigilance AT sznasr newbornscreeningsaveslivesbutcannotreplacetheneedforclinicalvigilance |