Rapid exome sequencing: revolutionises the management of acutely unwell neonates
dc.contributor.author | Williamson, Sarah Louise | |
dc.contributor.author | Rasanayagam, CN | |
dc.contributor.author | Glover, KJ | |
dc.contributor.author | Baptista, Julia | |
dc.contributor.author | Naik, S | |
dc.contributor.author | Satodia, Prakash | |
dc.contributor.author | Gowda, Harsha | |
dc.date.accessioned | 2022-05-03T18:18:25Z | |
dc.date.issued | 2021-12 | |
dc.identifier.issn | 0340-6199 | |
dc.identifier.issn | 1432-1076 | |
dc.identifier.uri | http://hdl.handle.net/10026.1/19168 | |
dc.description.abstract |
Diagnosing acutely unwell infants with a potential genetic diagnosis can be challenging for healthcare professionals. Evidence suggests that up to 13% of critically unwell infants on the neonatal intensive care unit (NICU) have an underlying molecular diagnosis and when identified directly affects treatment decisions in 83%. On 1st October 2019, the National Health Service England (NHSE) launched a nationally commissioned service so that rapid whole-exome sequencing can be offered to critically unwell babies and children with a likely monogenic disorder who are admitted to NICU and paediatric intensive care unit (PICU). We present 7 cases from two neonatal units in the West Midlands (UK), where rapid exome sequencing has revealed a genetic diagnosis. Early genetic diagnosis in this cohort has influenced management in all (100%) cases, and in 57% (4 in 7 cases), it has helped in the decision to reorientate care. In some cases, early diagnosis has reduced the need for invasive and unnecessary investigations and avoided the need for post-mortem investigations. The genetic diagnosis has helped in counselling the families regarding the recurrence risk for future pregnancies. In some cases, this has provided parents with the reassurance of a low recurrence. In others, it has resulted in the offer of prenatal diagnosis or assisted conception technologies. What is Known: • Rapid whole-exome sequencing was commissioned in the UK in October 2019. • It is available for critically unwell babies with a likely monogenic aetiology. What is New: • It helps management planning for rare genetic disorders and future pregnancies counselling. • It can reduce the need for invasive investigations and overall intensive care costs. | |
dc.format.extent | 3587-3591 | |
dc.format.medium | Print-Electronic | |
dc.language | en | |
dc.language.iso | eng | |
dc.publisher | Springer Science and Business Media LLC | |
dc.subject | Neonatal intensive care | |
dc.subject | Genetics | |
dc.subject | Rapid whole-exome sequencing | |
dc.title | Rapid exome sequencing: revolutionises the management of acutely unwell neonates | |
dc.type | journal-article | |
dc.type | Journal Article | |
plymouth.author-url | https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000663239300003&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=11bb513d99f797142bcfeffcc58ea008 | |
plymouth.issue | 12 | |
plymouth.volume | 180 | |
plymouth.publication-status | Published | |
plymouth.journal | European Journal of Pediatrics | |
dc.identifier.doi | 10.1007/s00431-021-04115-x | |
plymouth.organisational-group | /Plymouth | |
plymouth.organisational-group | /Plymouth/Faculty of Health | |
plymouth.organisational-group | /Plymouth/Faculty of Health/Peninsula Medical School | |
plymouth.organisational-group | /Plymouth/Users by role | |
plymouth.organisational-group | /Plymouth/Users by role/Academics | |
dc.publisher.place | Germany | |
dcterms.dateAccepted | 2021-05-10 | |
dc.rights.embargodate | 9999-12-31 | |
dc.identifier.eissn | 1432-1076 | |
dc.rights.embargoperiod | Not known | |
rioxxterms.versionofrecord | 10.1007/s00431-021-04115-x | |
rioxxterms.licenseref.uri | http://www.rioxx.net/licenses/all-rights-reserved | |
rioxxterms.licenseref.startdate | 2021-12 | |
rioxxterms.type | Journal Article/Review |