2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Two Cases of Prenatally Diagnosed Cri-du-Chat Syndrome and Associated MRI Findings

Pdf Summary

Cri-du-chat Syndrome (CdCS) is a microdeletion syndrome characterized by a deletion on the p-arm of chromosome 5. It is typically diagnosed postnatally and is associated with distinctive features such as a high-pitched cry, microcephaly, and developmental delay. However, there are limited cases reporting the prenatal phenotype and fetal MRI findings of CdCS. This study presents two cases of prenatally diagnosed CdCS.<br /><br />In the first case, a 36-year-old woman presented at 21 weeks 3 days gestation with suspected ventriculomegaly. Ultrasound and MRI revealed mildly dilated lateral cerebral ventricles, a foreshortened corpus callosum, a hypoplastic cerebellum, and a thickened nuchal fold. The MRI also showed flattening of the anterior pons. Amniocentesis confirmed a terminal de novo deletion at 5p14.<br /><br />The second case involved a 33-year-old woman who presented at 21 weeks 4 days gestation with suspected absent cavum septum pellucidi and hypoplastic right heart syndrome. Ultrasound and MRI demonstrated complete agenesis of the corpus callosum, mild lateral ventriculomegaly, and colpocephaly. The MRI also revealed a thin and dysmorphic brainstem, particularly the pons, and enlarged ganglionic eminences. Amniocentesis confirmed a terminal de novo deletion at 5p15.<br /><br />The findings of these cases suggest that fetal MRI can be valuable in diagnosing CdCS, even in cases of mild ventriculomegaly. Brainstem abnormalities, such as pontine hypoplasia, were best visualized on MRI. Additionally, the presence of pontine abnormalities and enlarged ganglionic eminences should raise suspicion for CdCS and prompt further evaluation.<br /><br />In conclusion, this study highlights the importance of prenatal diagnosis and fetal MRI in cases of CdCS. The specific MRI findings in these cases, including pontine abnormalities and enlarged ganglionic eminences, provide valuable insights into the prenatal phenotype of CdCS. Early diagnosis can facilitate appropriate management and support for affected individuals.

Asset Subtitle

Presenting Author - Renee DiCicco, MS, LCGC; Co-Author - Natalie Burrill, MS, LCGC; Co-Author - Haley Crane, MS, CGC; Co-Author - Nahla Khalek, MD, MPH, MS; Co-Author - ERICA MA. SCHINDEWOLF, MS, LCGC; Co-Author - Sonika Agarwal, MBBS, MD, DNB, MNAMS; Co-Author - Matthew Whitehead, MD; Co-Author - Deborah Zarnow, MD, MS; Co-Author - Edward R. Oliver, MD, PhD; Co-Author - Ashley Bach, MD, MPH; Co-Author - Julie Moldenhauer, MD, FACOG, FACMG;

Meta Tag

Brain/Nervous System

Chromosomal Abnormalities

Clinical Cytogenetics

Cognitive Disorders

Congenital Anomaly

Cytogenetics

Intellectual disability

Microarray

Phenotype

Prenatal Diagnosis

Ultrasound

Co-Author Natalie Burrill, MS, LCGC

Co-Author Haley Crane, MS, CGC

Co-Author Nahla Khalek, MD, MPH, MS

Co-Author ERICA MA. SCHINDEWOLF, MS, LCGC

Co-Author Sonika Agarwal, MBBS, MD, DNB, MNAMS

Co-Author Matthew Whitehead, MD

Co-Author Deborah Zarnow, MD, MS

Co-Author Edward R. Oliver, MD, PhD

Co-Author Ashley Bach, MD, MPH

Co-Author Julie Moldenhauer, MD, FACOG, FACMG

Presenting Author Renee DiCicco, MS, LCGC

Keywords

Cri-du-chat Syndrome

microdeletion syndrome

chromosome 5

high-pitched cry

microcephaly

developmental delay

prenatal diagnosis

fetal MRI findings

ventriculomegaly

brainstem abnormalities