2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-IMPACT OF CMA ON DIAGNOSIS AND CLINICAL MANAGEMENT OF NEONATES: A RETROSPECTIVE SINGLE CENTER STUDY OF A 10-YEAR COHORT

Pdf Summary

Chromosomal microarray analysis (CMA) is a commonly used diagnostic test for individuals with congenital anomalies. This study aimed to assess the diagnostic yield and impact of CMA on clinical management in a large neonatal cohort over a 10-year period. The study analyzed a cohort of 959 neonates who underwent CMA testing and found a diagnostic yield of 12%. The most commonly observed pathogenic findings were 22q11.21 deletion, Trisomy 21, 22q11.21 duplication, 16p11.2 deletion and duplication, and 47,XXX. Clustering of pathogenic findings by chromosome revealed chromosome 22 as having the highest number of copy number variants (CNVs) resulting in positive reports. Pathogenic CNVs were not detected on chromosomes 14 and 20.<br /><br />Possible uniparental disomy (UPD) cases were most observed in chromosomes 7 and 11. The presence of prematurity did not affect the diagnostic yield, and none of the infants of diabetic mothers had pathogenic CNVs. Pathogenic CNVs in the preterm group were predominantly duplications, while in the entire cohort, deletions were more common.<br /><br />The study also analyzed the diagnostic yield based on clinical presentations. The diagnostic yield for patients with isolated congenital heart defects (CHD) was 6.1%, while patients with CHD accompanied by other systemic findings had a diagnostic yield of 24.3%. Patients with isolated hypoplastic left heart syndrome had a lower diagnostic yield of 3.2%. Patients with facial dysmorphism as part of their clinical picture had a higher diagnostic yield of 28%. Prematurity and being an infant of a diabetic mother did not significantly affect the diagnostic yield, but patients with heterotaxy had a lower diagnostic yield of 4.7%.<br /><br />In summary, CMA testing in this neonatal cohort had a diagnostic yield of 12%. Various pathogenic findings were detected, with chromosome 22 having the highest number of pathogenic CNVs. The diagnostic yield varied based on different clinical presentations.

Asset Subtitle

Presenting Author - Ozgur Rosti, MD; Co-Author - Eli S. Williams, PhD; Co-Author - Jinbo Fan, PhD;

Meta Tag

Cardiac/circulatory disorders

Cardiovascular System

Chromosomal Abnormalities

Chromosome Structure/Function

Clinical Applications of Molecular Cytogenetics

Clinical Cytogenetics

Cognitive Disorders

Congenital Anomaly

Counseling

Cytogenetics

Dysmorphology

Genetic Testing

Genitourinary malformations

Genotype-Phenotype Correlations

Imprinting

Intellectual disability

Malformation

Microarray

Molecular Cytogenetics

Musculoskeletal system

Pathology

Phenotype

Pulmonary/respiratory malformations

Uniparental Disomy

Co-Author Eli S. Williams, PhD

Co-Author Jinbo Fan, PhD

Presenting Author Ozgur Rosti, MD

Keywords

Chromosomal microarray analysis

CMA

Congenital anomalies

Diagnostic test

Neonatal cohort

Diagnostic yield

Pathogenic findings

Copy number variants

Uniparental disomy

Clinical presentations