Table 2

The list of diseases and genes included in the screening test

Type of diseasesDiseases and genes
Aneuploidies (7 diseases)Trisomy 21
Trisomy 18
Trisomy 13
45, X
47, XXX
47, XXY
47, XYY
Microdeletion and microduplication syndromes (9 diseases)DiGeorge syndrome
1p36 deletion syndrome
2q33.1 deletion syndrome
Angelman syndrome
Prader-Willi syndrome
Cri du Chat syndrome
Wolf-Hirschhorn syndrome
Langer-Giedion syndrome
Jacobsen syndrome
Monogenic disorders (155 diseases with related 75 genes)*Representative diseases and genes:
Noonan spectrum disorders (PTPN11, SOS1, RIT1, RAF1, etc.)
Osteogenesis imperfecta (COL1A1, COL1A2, IFITM5)
Achondroplasia (FGFR3)
Crouzon syndrome (FGFR2, FGFR3)
CHARGE syndrome (CHD7)
Rett syndrome (MECP2)
Tuberous sclerosis (TSC1, TSC2)

  • *See supplemental materials for the full list of monogenic disorders.