ArticleFrontiers in genetics2020
Application of Next-Generation Sequencing for Genetic Diagnosis in Neonatal Intensive Care Units: Results of a Multicenter Study in China.
Article in Frontiers in genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 2 of them syntheses that pooled it.
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Who cites it
13 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Benefits and barriers to broad implementation of genomic sequencing in the NICU.American journal of human genetics · 2025Pooled it
- Whole genome sequencing diagnostic yield for paediatric patients with suspected genetic disorders: systematic review, meta-analysis, and GRADE assessment.Archives of public health = Archives belges de sante publique · 2023Pooled it
- Neonatal genetic sequencing as a first-tier option: a real-world clinical implementation study in Northern China.Annals of medicine · 2026Article
- A Tiered Genetic Diagnostic Approach in Newborns With Major Congenital Anomalies: Experience From a Tertiary NICU.Birth defects research · 2026Article
- Clinical risk factors predicting likelihood of pathogenic genetic result in NICU patients.Genetics in medicine open · 2026Article
- Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort.Frontiers in pediatrics · 2025Article
- Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.Molecular genetics & genomic medicine · 2024Article
- PACS gene family-related neurological diseases: limited genotypes and diverse phenotypes.World journal of pediatrics : WJP · 2024Article
- [Clinical practice of whole-genome sequencing in the rapid diagnosis of critically ill neonates].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2023Article
- A novelMolecular medicine reports · 2022Article
- RASopathies due to de novo pathogenic variants: clinical features, genetic findings and outcomes in nine neonates born with congenital heart defects.BMC medical genomics · 2022Article
- Detection and impact of genetic disease in a level IV neonatal intensive care unit.Journal of perinatology : official journal of the California Perinatal Association · 2022Article
- Lethal variants in humans: lessons learned from a large molecular autopsy cohort.Genome medicine · 2021Article
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Authors and funding
13 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
To identify next-generation-sequencing (NGS) clinical usability and to propose a standard diagnostic routine for critically ill infants, aged less than 100 days and suspected of having a genetically heterogeneous condition, a retrospective study was conducted between January 2016 and December 2018 at neonatal intensive care units (NICUs) of three tertiary hospitals in Shanghai, China. Whole-exome sequencing (WES) or panel sequencing was performed on 307 patients. Trio-WES, trio-panel, proband-WES, and proband-panel diagnostic yields were 39.71% (83/209), 68.75% (22/32), 59.09% (26/44), and 33.33% (4/12), respectively. Definitive molecular diagnoses of 142 infants (46.25%) uncovered 99 disorders; 21 disorders displayed on 44.37% of the diagnosed patients. Genetic etiologies were identified for 61.73% (50/81) of the deceased infants. One in three (29.58%) diagnosed infants exhibited one of the following four clinical traits which had a higher odds of diagnostic rate: integument abnormality (adjusted odds ratio [aOR], 19.7; 95% confidence interval [CI], 2.5-156.3), complex immune-related phenotypes (aOR, 9.2; 95% CI, 1.4-83.5), mixed nervous system phenotypes and congenital anomalies (aOR, 5.0; 95% CI, 1.3-19.1), or mixed metabolism and nervous system phenotypes (aOR, 4.5; 95% CI, 1.0-21.5). Our results demonstrated that NGS was an effective diagnostic tool. Infants exhibiting integument, complex immune-related conditions, metabolism, and nervous signs have higher chances of carrying variants in known disease-causing genes. The number of specific phenotypes could be used as an independent predictor of a positive molecular diagnosis, rather than an isolated abnormality. We developed a molecular diagnostic procedure for the use of NGS for diagnosis in Chinese NICU population based on individual characteristics.
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