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Published in: Journal of Assisted Reproduction and Genetics 11/2017

01-11-2017 | Embryo Biology

Natural selection between day 3 and day 5/6 PGD embryos in couples with reciprocal or Robertsonian translocations

Authors: Claire E. Beyer, E. Willats

Published in: Journal of Assisted Reproduction and Genetics | Issue 11/2017

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Abstract

Purpose

For translocation carriers, preimplantation genetic diagnosis (PGD) provides the opportunity to distinguish between normal/balanced and unbalanced embryos prior to implantation and, as such, increases the likelihood of a successful ongoing pregnancy. The data presented here compares autosomal reciprocal and Robertsonian translocation segregation patterns in day 3 versus day 5/6 IVF-PGD embryos to determine if there is a difference in the chromosome segregation patterns observed at these developmental time points.

Methods

A retrospective analysis on PGD translocation carriers at Monash IVF was performed. Segregation patterns were compared between day 3 and day 5/6 embryos to ascertain whether selection against malsegregants exists.

Results

For reciprocal translocations, 1649 day 3 embryos (139 translocations) from 144 couples and 128 day 5/6 embryos (59 translocations) from 60 couples were analysed. Day 3 segregation analysis showed that 22.3% of embryos were normal/balanced (consistent with 2:2 alternate segregation) and 77.7% were unbalanced (malsegregation). Day 5/6 segregation analysis showed that 53.1% of embryos were normal/balanced and 46.9% were unbalanced. For Robertsonian translocations, 847 day 3 embryos (8 translocations) from 54 couples and 193 day 5/6 embryos (6 translocations) from 31 couples were analysed. Day 3 segregation analysis showed that 38.7% of embryos were normal/balanced (consistent with 2:1 alternate segregation) and 61.3% were unbalanced. Day 5/6 segregation analysis showed that 74.1% of embryos were normal/balanced and 25.9% were unbalanced.

Conclusions

This data demonstrates an increase in the proportion of genetically normal/balanced embryos at day 5/6 of development. This suggests a strong natural selection process between day 3 and day 5/6 in favour of normal/balanced embryos. These findings support performing PGD testing on day 5/6 of embryo development.
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Metadata
Title
Natural selection between day 3 and day 5/6 PGD embryos in couples with reciprocal or Robertsonian translocations
Authors
Claire E. Beyer
E. Willats
Publication date
01-11-2017
Publisher
Springer US
Published in
Journal of Assisted Reproduction and Genetics / Issue 11/2017
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI
https://doi.org/10.1007/s10815-017-1009-0

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