Rapid exome sequencing: revolutionises the management of acutely unwell neonates.
Eur J Pediatr
; 180(12): 3587-3591, 2021 Dec.
Article
em En
| MEDLINE
| ID: mdl-34143244
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Medicina Estatal
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Exoma
Tipo de estudo:
Screening_studies
Limite:
Child
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Humans
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Infant
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Newborn
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article