Abstract
BackgroundChromosomal inversion was considered to have adverse effects on pregnancy outcomes through abnormal gametogenesis. The purpose of this retrospective study was to investigate whether preimplantation genetic testing (PGT) improves pregnancy outcomes for couples with chromosomal inversion.MethodsA total of 188 cycles from 165 couples with one chromosomal inversion carrier were divided into two groups: PGT (136 cycles, 125 couples) and non-PGT (52 cycles, 50 couples). Biochemical pregnancy, clinical pregnancy, ongoing pregnancy, miscarriage and live birth rates of their first transfer cycles, as well as cumulative live birth rates of each cycle and euploidy rates, were analyzed.ResultsThere were no statistically significant differences in the pregnancy outcomes between the two groups. The euploidy rate of pericentric inversion carriers was not higher than that of paracentric inversion carriers in PGT group (60.71% vs 50.54%, P = 0.073). Similarly, the euploid rate of male carriers was not higher than that of female carriers (61.2% vs 56.1%, P = 0.256).ConclusionsDue to limitation of retrospective study and small sample size, our current data showed that PGT cannot provide prominent benefits for inversion carriers in the Chinese Han population. Further prospective randomized controlled trials are needed to evaluate the effects of PGT.
Highlights
Chromosomal inversion is a common structural rearrangement of chromosomes where the chromosome is cleaved into three parts by two breakages
Patients Retrospective analysis on the pregnancy outcomes of chromosomal inversion was performed on carriers who had undergone in vitro fertilization (IVF) or IVF in combination with intracytoplasmic sperm injection (ICSI) and preimplantation genetic testing (PGT), in the Center for Reproductive Medicine of Shandong University
Since we found that the duration of infertility and the recurrent spontaneous abortion (RSA) rate in the PGT group were significantly different compared to the control group and maternal age has always been regarded as being of influence to pregnancy outcomes, logistic regression analysis was performed to determine if the factors besides the assisted reproduction method used would have any impact on pregnancy outcomes
Summary
Chromosomal inversion is a common structural rearrangement of chromosomes where the chromosome is cleaved into three parts by two breakages. The risk of producing unbalanced gametes depends on the occurrence of recombination within the inverted segment, and homologous synapsis is necessary for recombination events. When the inverted segment is so long that it involves most of the chromosome length, synapsis of the inversion with its homologous noninverted segment prevails over pairing with the distal segments. Inversion carriers with small distal segments of the inverted chromosome are more likely to give birth to chromosomally unbalanced or phenotypically abnormal offspring. Inversion heterozygotes in which one or both distal segments are large have a risk for producing gametes and recombinants with considerable genetic imbalance, leading to implantation failure or pregnancy loss [7]. The purpose of this retrospective study was to investigate whether preimplantation genetic testing (PGT) improves pregnancy outcomes for couples with chromosomal inversion
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