| EA | Esophageal atresia |
| TEF | Tracheoesophageal fistula |
| VACTERL | Vertebral defects, Anal atresia, Cardiac defects, Tracheoesophageal fistula, Renal anomalies, Limb abnormalities |
| MRI | Magnetic resonance imaging |
| NICU | Neonatal intensive care unit |
| SGA | Small for gestational age |
| CMA | Chromosomal microarray analysis |
| MLPA | Multiplex ligation-dependent probe amplification |
| NGS | Next-generation sequencing |
| WES | Whole-exome sequencing |
| WGS | Whole-genome sequencing |
| PCR | Polymerase chain reaction |
| CNS | Central nervous system |
| OMIM | Online Mendelian Inheritance in Man |