BWS can be detected prenatally from the occurrence of abnormal gyration patterns in the fetus. Care should be employed when performing antenatal diagnoses as miscarriage and other complications are possible. The diagnosis of unremarkable prenatal scans can be supplemented through the use of WES or trio sequencing. BWS diagnoses are commonly confirmed via DNA sequencing of ACTB and ACTG1 genes. Serial single-gene testing performs a sequence analysis of ACTB followed by ACTG1. It is important to note that deletion/duplication analysis is not a possible method of diagnosis as all associated mutations are missense in nature. Multigene panels are employed to differentiate BWS from different mutations with similar phenotypic characteristics such as Noonan syndrome. Associated genes analyzed in multigene panels for BWS include KIF5C, KIF2A, DYNC1H1, WDR62, and TUBG1 genes.
Fryns-Aftimos syndrome
Yunis–Varon syndrome
Helsmoortel-Van der Aa syndrome
CAMFAK syndrome
Townes–Brocks syndrome
Teunissen–Cremers syndrome
Pretzel syndrome
Cortes Lacassie syndrome