Diagnosis of De Novo Mosaic Balanced Translocation t(1;3)(q42;q25) in a Fetus Conceived Using Pre-implantation Diagnosis Due to Presence in the Father of a Different Balanced Translocation

Abstract IntroductionPreimplantation genetic testing (PGT) had widely been applied in reciprocal translocation carriers to improve the clinical outcome of assisted reproduction. De novo mosaicism balanced reciprocal translocations in fetus conceived using PGT from a balanced translocation carrier parent has been rarely reported, and the driving mechanism is not clearly. MethodsChromosomal microarray analysis (CMA) , karyotype analysis and fluorescent in situ hybridization (FISH) were performed to verify the type and heredity of the rearrangement. STR analysis was used to identify potential contamination as well as kinship verification and identification. ResultsA rare de novo mosaicism balanced reciprocal translocation t(1,3)(q42;q25) in fetus conceived using PGT-SR from a t(12;14)(q22;q13) balanced translocation carrier father was been diagnosed by multiplatform genetic techniques. At 31 weeks and 2 days of gestation, premature delivery was caused by uncontrollable uterine contractions. At the 21-months follow up, infant has achieved all psychomotor development milestones as well as growth within the normal reference range. ConclusionPGT cases still need close observation in prenatal diagnosis and long-term follow-up.