Case Series of Prenatally Diagnosed Cri du Chat Syndrome With Associated Magnetic Resonance Imaging Findings
Renee Wright1, Natalie Burrill1, Haley Crane1
1Richard D. Wood Jr. Center for Fetal Diagnosis and Treatment, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.
Background:
Although the postnatal presentation of cri du chat syndrome (CdCS) is well known, few cases have reported the fetal phenotype of this syndrome.
Methods:
We aim to share novel magnetic resonance imaging (MRI) findings in prenatally diagnosed CdCS.
Results:
Here we describe three cases of prenatally diagnosed CdCS, with pontine and cerebellar hypoplasia, identified by ultrasound and confirmed by fetal MRI.
Conclusions:
These cases highlight an expansion of the CdCS phenotype and the importance of fetal MRI and prenatal genetic testing in assisting with prenatal diagnosis of CdCS.
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