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

ABSTRACT The association between small for gestational age birth and chromosomal abnormalities identified through karyotyping is well-established. Notably, advancements in cytogenetic techniques have shifted from routine karyotyping to the recommended use of microarray technology. This transition allows higher resolution and the detection of sub-microscopic copy number variants (CNVs). Our study included 49 patients born small for gestational age, 27 males and 22 females. Clinical data were gathered from reports by clinical genetic specialists, and a questionnaire was included in the referral list to our laboratory. All participants were of pediatric age, ranging from neonatal to 12 years old. Chromosomal microarray testing was conducted by the Agilent SurePrint G3 Human CGH Microarray 8×60K. The application of molecular karyotyping yielded clinically significant results in 16 cases (32.65%), which included 13 deletions and 6 duplications. Three patients presented with two clinically significant CNVs (csCNVs). In ten cases, we identified recurrent microdeletion or microduplication syndromes well-documented in the literature: Williams syndrome as the most commonly identified (three patients), and others like Koolen de Vries, Prader-Willi, Miller-Dieker, Dryer, DiGeorge syndrome, 7q11.23 microduplication, 16p13.11 microdeletion, and 1q21.1 microdeletion syndrome. Six patients had rare non-recurrent pathological CNVs. There was no statistically significant difference between patients with csCNVs and those without regarding the presence of intellectual disabilities, central nervous system, cardiac or skeletal malformations. Chromosomal microarray proves to be a useful diagnostic tool in the etiology diagnosis of children born small for gestational age.