Genetic disorder | Second-trimester markers | First-trimester markers | |||||
AFP | uE3 | hCG/free beta | Inhibin A | NT | PAPP-A | hCG/free beta | |
Down syndrome | ↓ | ↓ | ↑ | ↑ | ↑↑ | ↓↓ | ↑ |
Trisomy 18 | ↓ | ↓↓ | ↓↓ | ↔ | ↑↑ | ↓↓ | ↓↓ |
Trisomy 13 | ↔ | ↔ | ↔ | ↔ | ↑ | ↓↓ | ↓ |
45X, with hydrops | ↓ | ↓ | ↑ | ↑ | ↑ | ↑↓ | ↑↓ |
45X, without hydrops | ↓ | ↓ | ↓ | ↓ | ↑ | ↑↓ | ↑↓ |
Triploidy (paternal) | ↔ | ↓ | ↑ | ↑ | ↑ | ↑↓ | ↑↑ |
Triploidy (maternal) | ↔ | ↓ | ↓ | ↓ | ↑ | ↑↓ | ↓↓ |
Smith-Lemli-Opitz syndrome | ↓ | ↓↓ | ↓ | NR | NR | NR | NR |
Sex chromosome aneuploidy | ↔ | ↔ | ↔ | ↔ | ↔ | ↔ | ↔ |
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