Prenatal diagnosis and molecular cytogenetic characterization of three chromosomal abnormalities with favorable outcomes.

OBJECTIVE

Here we present three cases of chromosomal abnormalities with favorable outcomes.

CASE REPORT: In Case 1, conventional karyotyping revealed a karyotype of 46, XY,t(7; 14) (q35; q13)[4]/46,XY[26]. Array comparative genomic hybridization (aCGH) analysis revealed no genomic imbalance. In Case 2, conventional karyotyping revealed a norma karyotype but aCGH analysis revealed a 3.2M chromosomal duplication (13q12.11q12.12(22, 073, 046_25, 230, 759)x3). In Case 3, aCGH analysis revealed a 5.5M chromosomal deletion (9q21.13q21.32 (78, 645, 382_84, 115, 555) x1). In all three cases, ultrasound examination showed no dysmorphisms and intrauterine growth restrictions (IUGRs) in the fetus. All three pregnancies resulted in phenotypically normal babies.

CONCLUSION

Chromosomal abnormalities may be associated with favorable outcomes. Combining conventional karyotyping, aCGH analysis and ultrasound results can provide a more accurate risk assessment for pregnant women with advanced age.