Prenatal phenotype of Kabuki syndrome: A case series and literature review

Prenat Diagn. 2021 Aug;41(9):1089-1100. doi: 10.1002/pd.5998. Epub 2021 Jul 3.


Objectives: Kabuki syndrome (KS) is a genetic disorder characterized by intellectual disability, facial dysmorphism and congenital anomalies. We aim to investigate the prenatal features of fetuses with KS and to provide a comprehensive review of the literature on prenatal sonographic abnormalities associated with KS.

Methods: We retrospectively reviewed the prenatal ultrasound findings of all mothers of children with molecularly confirmed KS in Hong Kong, between 1991 and 2019. We also performed systematic review of the literature to identify studies on the prenatal findings in KS.

Results: We identified 11 cases with KS with detectable fetal ultrasound findings ranging from no detectable abnormalities to a variety of non-specific findings including increased nuchal translucency, pleural effusion, cardiac anomalies, renal anomalies, intrauterine growth restriction, polyhydramnios, oligohydramnios and single umbilical artery. In combining our cases with the 77 cases published, 42 (50.6%) of them had more than one abnormal antenatal ultrasound finding. The most frequent ultrasound features observed were cardiac anomalies (49.4%), followed by polyhydramnios (28.9%), genitourinary anomalies (26.5%), single umbilical artery (15.7%), intrauterine growth restriction (14.5%) and hydrops fetalis/pleural effusion/ascites (12.0%).

Conclusions: These cases demonstrate the prenatal phenotypic heterogeneity associated with KS. Although the ultrasound abnormalities are non-specific, KS should be considered in the differential diagnosis when these fetal findings following normal microarray analysis/karyotyping.

Keywords: Kabuki syndrome; exome sequencing; fetal ultrasound; prenatal diagnosis; prenatal phenotype.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Face / abnormalities*
  • Female
  • Hematologic Diseases / genetics*
  • Humans
  • Male
  • Phenotype*
  • Pregnancy
  • Ultrasonography, Prenatal / methods
  • Ultrasonography, Prenatal / statistics & numerical data
  • Vestibular Diseases / genetics*

Supplementary concepts

  • Kabuki syndrome