Abstract
IntroductionDe novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported.MethodsChromosomal microarray analysis, karyotype analysis and fluorescent in situ hybridization were performed to verify the type and heredity of the rearrangement. STR analysis was conducted to identify potential contamination and verify kinship. In addition, a local BLAST engine was performed to locate potentially homologous segments which might contribute to the translocation in breakpoints of chromosome.ResultsA rare de novo balanced reciprocal translocations mosaicism mos 46,XY,t(1;3)(q42;q25)[40]/46,XY[39] was diagnosed in a fetus conceived using preimplantation genetic testing due to a 46,XY,t(12;14)(q22;q13) balanced translocation carrier father through multiplatform genetic techniques. Two of the largest continuous high homology segments were identified in chromosomal band 1q42.12 and 3q25.2. At the 21-months follow up, infant has achieved all psychomotor development milestones as well as growth within the normal reference range.ConclusionWe present a prenatal diagnosis of a rare de novo balanced reciprocal translocations mosaicism in a fetus who conceived by preimplantation genetic testing. The most reasonable driving mechanism was that a de novo mitotic error caused by nonallelic homologous recombination between 1q42.12 and 3q25.2 in a zygote within the first or early cell divisions, which results in a mosaic embryo with the variant present in a half proportion of cells.
Highlights
De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported
Balanced reciprocal translocations mosaicism (BRTM) has been rarely reported, and most reported cases have been diagnosed through cytogenetic analysis investigation prescribed by infertility, miscarriages, and/or unbalanced chromosome rearrangement in the offspring [4]
We reported a rare case of BRTM mos 46,XY,t(1;3)(q42;q25)[40]/46,XY[39] in a fetus conceived using Preimplantation genetic testing (PGT)-SR in a t(12;14)(q22;q13) BRT carrier father
Summary
De novo balanced reciprocal translocations mosaicism in fetus conceived using preimplantation genetic testing from a different balanced translocation carrier parent has been rarely reported. Balanced reciprocal translocations (BRT) are common structural chromosomal rearrangements with an incidence rate of approximately 1/500 ~ 1/625 in newborns [1]. Most BRT carriers have the normal phenotype but a high risk of abortion, infertility, or birth defects in offspring resulting from unbalanced gametes [2]. Balanced reciprocal translocations mosaicism (BRTM) has been rarely reported, and most reported cases have been diagnosed through cytogenetic analysis investigation prescribed by infertility, miscarriages, and/or unbalanced chromosome rearrangement in the offspring [4]. We reported a rare case of BRTM mos 46,XY,t(1;3)(q42;q25)[40]/46,XY[39] in a fetus conceived using PGT-SR in a t(12;14)(q22;q13) BRT carrier father
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