Application of array comparative genomic hybridization on the DNA extracted from neonatal buccal mucosal cells for the postnatal investigation of prenatally detected chromosomal mosaicism at amniocentesis

OBJECTIVE: To study the application of aCGH analysis on the DNA extracted from neonatal buccal mucosal cells for the postnatal investigation of prenatally detected chromosomal mosaicism at amniocentesis. MATERIALS AND METHODS: From January 2023 to December 2025, a total of 50 neonates with prenatally detected chromosomal mosaicism involving autosome (n = 22), sex chromosome (n = 20), microduplication (n = 2), microdeletion (n = 2), and a small supernumerary marker chromosome (n = 4) were studied for the postnatal investigation of prenatally detected chromosomal mosaicism at amniocentesis by use of aCGH analysis on the DNA extracted from neonatal buccal mucosal cells. Of 50 cases, 47 had one study and three had two studies. The buccal mucosal cells were investigated by aCGH along with or without FISH and peripheral blood chromosomal examination. The neonatal ages studied ranged from 1-6 months (n = 23), 7-12 months (n = 17) to 13-53 months (n = 13). RESULTS: All 53 aCGH examinations were successful. The buccal DNA yield ranged from 0.55 to 5.68 μg (2.32 ± 1.26 μg, mean ± SD, n = 53). The DNA yields (mean ± SD) in 1∼6 months old neonates, 7-12 months old neonates and 13-53 months old neonates were 1.92 ± 0.79 μg (n = 20), 2.38 ± 1.47 μg (n = 15) and 2.73 ± 1.41 μg (n = 18), respectively. CONCLUSION: The application of aCGH analysis on the DNA extracted from neonatal buccal mucosal cells is a convenient and efficient method for the postnatal investigation of prenatally detected chromosomal mosaicism at amniocentesis.