| FPR | False positive rate |
| NIPT | Non-invasive prenatal testing |
| NIPD | Non-invasive prenatal diagnosis |
| SCA | Sex chromosomal anomaly |
| CMA | Chromosomal microarray |
| CES | Clinical exome sequencing |
| WES | Whole exome sequencing |
| WGS | Whole genome sequencing |
| CNV | Copy number variant |
| RAT | Rare autosomal trisomy |
| FTCS | First trimester combined screening |
| NT | Nuchal translucency |
| PPV | Positive predictive value |
| UPD | Uniparental disomy |
| CPM | Confined placental mosaicism |
| IUGR | Intrauterine growth restriction |
| CVS | Chorionic villous sampling |
| TFM | True fetal mosaicism |
| VUS | Variants of uncertain significance |
| SNP | Single nucleotide polymorphism |
| NGS | Next-generation sequencing |
| AI | Artificial intelligence |