Exome Sequencing Resolving a Complex Pediatric Neurodevelopmental Disorder After Inconclusive Prenatal Testing
A Case Report
Bibliographic Data
| ID | 15714780 |
|---|---|
| Authors | Margarita Panova (0000-0003-4804-3280, Medical University Plovdiv), Hristo Ivanov (0000-0002-7912-3673, Medical University Plovdiv, corresponding author), Iglika Sotkova-Ivanova (Medical University Plovdiv) |
| Year | 2026 |
| Volume | 13 |
| Issue | 2 |
| Pages | 202-202 |
| Publication date | 2026-01-31 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Children (JOURNAL) |
| Journal identifiers | ISSN: 2227-9067 • E-ISSN: 2227-9067 |
| Publisher | Multidisciplinary Digital Publishing Institute (PUBLISHER • CH) |
| DOI | 10.3390/children13020202 |
| PMID | 41749558 |
| OpenAlex | W7126424455 |
| Language | EN |
| References cited | 27 |
This case highlights the diagnostic limitations of standard prenatal chromosomal testing in detecting monogenic neurodevelopmental disorders and underscores the critical role of timely genetic counseling and exome sequencing. Earlier selective implementation of WES during pregnancy could have enabled an earlier diagnosis, improved prognostic counseling, and optimized clinical decision-making
Exome · Exome sequencing · Genetic counseling · Genetic diagnosis · Genetic testing · Neurodevelopmental disorder · Pregnancy · Prenatal diagnosis · Genomic variations and chromosomal abnormalities · Genomics and Rare Diseases · Neurogenetic and Muscular Disorders Research
| Highly cited | No |
|---|