| FGR | fetal growth restriction |
| CMA | chromosomal microarray analysis |
| WES | whole exome sequencing |
| CNVs | copy number variations |
| UPD | uniparental disomy |
| SNVs | single-nucleotide variants |
| P | pathogenic |
| LP | likely pathogenic |
| B | benign |
| LB | likely benign |
| VUS | variant of uncertain significance |
| GA | gestational age |
| LB | live born |
| TOP | termination of pregnancy |
| IUFD | intrauterine fetal demise |
| Mat. | maternal |
| Pat. | paternal |
| AD | autosomal dominant |
| AR | autosomal recessive |
| IC | imprinting center |
| MS-MLPA | methylation-specific multiplex ligation-dependent probe amplification |
| PCR | polymerase chain reaction |
| STR | short tandem repeat |