Abstract
The aim of this study was to analyze differences in chromosomal aberrations and euploidy in embryos of each translocation type and gender of carrier in the case series of 10 couples with balanced translocations who underwent IVF with embryos trophectoderm (TE) biopsy and PGT-A to detect chromosomal aberrations. This is a Case Series (Retrospective study). In each case, controlled ovarian hyperstimulation, oocyte insemination with intracytoplasmic sperm injection (ICSI) and cultivation gave multiple blastocysts, that underwent trophectoderm (TE) biopsy with PGT-A analysis using aCGH and NGS. Number of total unbalanced translocations compared to the number of sporadic aneuploid embryos was 39.6% to 39.6% (50% to 50% of all 37 aneuploid embryos). The highest euploidy rate was in male carrier group – 26.7% and the lowest in the Robertsonian translocation carrier group – 18.2%. Sporadic aneuploidy – 68.2% was highest in Robertsonian translocation carrier group and lowest in female group – 11.1%. Chromosomal aberrations related to translocation were highest in female carrier group – 77.8% and lowest in Robertsonian translocation carrier group – 13.6%. Our study showed that expectancy of total embryo aneuploidy rates will be higher in carriers, than in people with normal karyotype. The prevalence of chromosomal aberrations related to translocation was 4.5 times higher in Reciprocal carrier group than in Robertsonian translocation carrier group. Among maternal and paternal carrier groups, the embryos from female carriers had the lowest euploidy rate, unbalanced translocation rate 4.7 times higher than in the male carrier group and higher total aneuploidy rates.
Highlights
From population-based congenital anomaly registers in Europe more than 10,000 cases with a chromosomal abnormality are described, giving a total birth prevalence rate of 43.8/10,000 births [1]
A biopsy was performed to 69 blastocysts and Preimplantation Genetic Testing for aneuploidies (PGT-A) was done for biopsies from 48 embryos (Table 1)
In 22 embryos, that were analyzed from the carriers of Robertsonian translocations the rate of unbalanced translocations was 81.8%, whereas from the Reciprocal translocation carrier group the unbalanced translocation rate in embryos was 76.9%
Summary
From population-based congenital anomaly registers in Europe more than 10,000 cases with a chromosomal abnormality are described, giving a total birth prevalence rate of 43.8/10,000 births [1]. This accounts for 15% of the major congenital anomalies diagnosed before the age of 1 year in Europe, and are associated with 25% of perinatal deaths [2]. In the pregnancy couples carrying reciprocal translocations (n 1⁄4 47) miscarries significantly more often (68%), compared to only 28% for couples without structural chromosomal abnormalities [4]
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