Chromosomal Microarray in Children Born Small for Gestational Age - Single Center Experience.

Area of Science:

• Genetics
• Pediatrics
• Molecular Biology

Background:

• Small for gestational age (SGA) birth is linked to chromosomal abnormalities.
• Cytogenetic analysis has evolved from karyotyping to microarray technology for higher resolution detection of copy number variants (CNVs).

Purpose of the Study:

• To evaluate the diagnostic utility of chromosomal microarray (CMA) in identifying clinically significant CNVs in pediatric patients born small for gestational age.

Main Methods:

• Conducted CMA using Agilent SurePrint G3 Human CGH Microarray 8×60K on 49 pediatric patients (neonatal to 12 years) born small for gestational age.
• Collected clinical data from genetic specialists and referral questionnaires.

Main Results:

• Clinically significant CNVs were detected in 16 out of 49 patients (32.65%), including deletions and duplications.
• Ten cases involved recurrent microdeletion/microduplication syndromes (e.g., Williams syndrome), while six had rare CNVs.
• No significant difference in intellectual disabilities or malformations was observed between patients with and without csCNVs.

Conclusions:

• Chromosomal microarray is an effective diagnostic tool for identifying the etiology of genetic disorders in children born small for gestational age.
• CMA offers higher resolution than karyotyping for detecting sub-microscopic CNVs associated with SGA.