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. 2022 Apr 28;188(9):2527–2535. doi: 10.1002/ajmg.a.62767

TABLE 1.

Risk‐stratified surveillance recommendations for HB in BWSp based on molecular subgroups.

HB screening Hepatic ultrasound a and duration AFP screening
(Brioude et al., 2018)
  • BWS w/o molecular evidence

No No No
  • ICR‐1

No No No
  • ICR‐2

No No No
  • 11p15 pUPD

Yes Every 3 months till 7 yrs No
  • CDKN1C‐mutation

No No No
(Maas et al., 2016)
  • BWS w/o molecular evidence

Yes Every 3 months till 4 yrs No
  • ICR‐1

No No No
  • ICR‐2

No No No
  • 11p15 pUPD

Yes Every 3 months till 4 yrs No
  • CDKN1C‐mutation

facultative Every 3 months till 4 yrs No
(Mussa, Molinatto, et al., 2016)
  • BWS w/o molecular evidence

Not mentioned Not mentioned Not mentioned
  • ICR‐1

No No No
  • ICR‐2

No No No
  • 11p15 pUPD

Yes Every 3 months till 5 yrs Yes
  • CDKN1C‐mutation

No No No

Abbreviations: w/o, without; yrs, years of age.

a

Explicit ultrasound imaging of the liver for detection of HB.