Abstract

ObjectiveTo determine the effect of gender of reciprocal chromosomal translocation on blastocyst formation and pregnancy outcome in preimplantation genetic testing, including different parental ages.MethodsThis was a retrospective cohort study that enrolled 1034 couples undergoing preimplantation genetic testing-structural rearrangement on account of a carrier of reciprocal chromosomal translocation from the Reproductive Medicine Center of the First Affiliated Hospital of Zhengzhou University from January 2015 to December 2019. Group A represented 528 couples in which the man was the carrier of reciprocal translocation and group B represented 506 couples in which the woman was the carrier of reciprocal translocation. All patients were divided into two groups according to their age: female age<35 and female age≥35. Furthermore, the differences in blastocyst condition and pregnancy outcome between male and female carriers in each group were further explored according to their father’s age.ResultsThe blastocyst formation rate of group A (55.3%) is higher than that of group B (50%) and the results were statistically significant (P<0.05). The blastocyst formation rate of group A is higher than that of group B, no matter in young maternal age or in advanced maternal age (P<0.05). The blastocyst formation rate in maternal age<35y and paternal age<30y in group A(57.1%) is higher than that of Group B(50%); Similarly, the blastocyst formation rate in maternal age≥35 and paternal age≥38y(66.7%) is higher than that of Group B(33.3%)(all P<0.05). There was no difference in fertilization rate, aeuploidy rate, clinical pregnancy rate, miscarriage rate and live birth rate between Group A and Group B.ConclusionWhen the carrier of reciprocal translocation is male, the blastocyst formation rate is higher than that of female carrier. While there is no significant difference between the two in terms of fertilization rate, aeuploidy rate, clinical pregnancy rate, miscarriage rate and live birth rate.

Highlights

  • Preimplantation genetic testing (PGT) is a set of advanced clinical procedures that includes PGT for aneuploidies (PGT-A) and PGT for chromosomal structural rearrangements (PGT-SR) [1]

  • There was no significant difference in male age, female age, retrieved oocytes, MII number of eggs, normal fertilization, fertilization rate, embryo biopsied, aeuploidy rate, clinical pregnancy, miscarriage rate and live birth rate between Group A and Group B

  • After comparing the young maternal age group with the advanced maternal age group, we came to the same conclusion that if the reciprocal translocation occurs in the male, the blastocyst formation rate is higher and there was no difference in pregnancy outcomes

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Summary

Introduction

Preimplantation genetic testing (PGT) is a set of advanced clinical procedures that includes PGT for aneuploidies (PGT-A) and PGT for chromosomal structural rearrangements (PGT-SR) [1]. It is a method for testing in vitro embryos or oocytes for Mendelian, chromosomal and mitochondrial defects as an alternative for prenatal diagnosis and selective termination of pregnancy in couples with a high risk of affected offspring, and many different genetic diseases can be diagnosed including structural chromosome rearrangements such as translocations [2]. The primary aim of preimplantation genetic testing-structural rearrangement (PGTSR) would be to distinguish between embryos carrying the “reciprocal translocation” (and accompanying microdeletion) and those with truly normal chromosomes [3]. The actual outcome depends on many factors, including the chromosomes involved, the breakpoints, and the sex of the carrier [9]

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