EP29.08: Outcome of non‐visualisation of fetal gallbladder

Abstract

Objectives: To assess whether the prenatal phenotype of CHARGE syndrome overlaps with the classic phenotype described for this syndrome that includes coloboma, cardiac defect, choanal atresia, growth and developmental delay, genital hypoplasia, and ear anomalies. Methods: Fetuses with a prenatal clinical exome sequencing performed after a normal QF-PCR and microarray result, during a 5-year period (June 2017-January 2022) at our centre were reviewed. Results: Three cases of CHARGE syndrome were diagnosed by clinical exome sequencing revealing the same pathogenic variant c.5458C>T, p. Arg1820T in the CHD7 gene:Case 1: 37-year-old pregnant woman. The anomaly scan at 21 +5 weeks identified a moderate ventriculomegaly and a dysgenetic corpus callosum (no splenium identified) with a decreased length.Case 2: 33-year-old pregnant woman. At a 17 +3 weeks scan, a bilateral cleft lip and palate and a conotruncal cardiac defect was detected. Postmortem studies after termination of pregnancy identified a ventricular septal defect with aortic end-splitting and confirmed the bilateral cleft lip and palate.Case 3: 36-year-old pregnant woman. Ultrasound at 32 +1 weeks detected a mild bilateral ventriculomegaly of 11.5 mm. Magnetic resonance imaging reported the non-identification of the olfactory grooves. Postmortem studies after termination found bilateral microtia, ponto-cerebellar hypoplasia and anomalous anterior medullary-pontine junction indentation. Conclusions: The fetal phenotype observed for CHARGE syndrome does not overlap with the classic description of CHARGE syndrome, since among the 6 signs classically defining CHARGE syndrome, only a cardiac defect was seen in one of the 3 cases. In the two other fetuses only complex central nervous system anomalies were prenatally observed.