| ABI GeneAmp® System 9700 (Thermo Fisher Scientific Inc. (NYSE: TMO) Waltham, Massachusetts, United States) | Applied Biosystem Gene Amplification |
| ACOG | American College of Obstetricians and Gynecologists |
| BCT | Blood Collection Tube |
| BGI | Beijing Genomics Institute |
| cffDNA | Cell-Free Fetal Deoxyribonucleic Acid |
| CNV | Copy number Variation |
| CVS | Chorionic Villus Sampling |
| DECIPHER | DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources |
| CNV | Copy number Variation |
| CVS | Chorionic Villus Sampling |
| DECIPHER | DatabasE of Chromosomal Imbalance and Phenotype in Humans using Ensembl Resources |
| Del | Deletion |
| DNA | Deoxyribonucleic Acid |
| DT | Double Test |
| Dup | Duplication |
| FF | Fetal Fraction |
| GA | Gestational Age |
| IVF | In Vitro Fertilization |
| MA | Maternal Age |
| Mb | Megabase |
| NCBI | National Center for Biotechnology Information |
| NGS | Next-Generation Sequencing |
| NIPT | Non-Invasive Prenatal Testing |
| NIFTY | Non-Invasive Fetal TrisomY |
| NPV | Negative Predicitive Value |
| OMIM | Online Mendelian Inheritance in Man |
| QF-PCR | Quantitative Fluorescent Polymerase Chain Reaction |
| PPV | Positive Predictive Value |
| SHOX gene | Short-Stature Homeobox gene |
| SNP-Array | Single Nucleotide Polymorphism Array |
| TT | Triple Test |
| USA | United States of America |