Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report

Show full item record



Molecular Cytogenetics. 2019 Jun 18;12(1):28

Title: Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report
Author: Tšuiko, Olga; Dmitrijeva, Tuuli; Kask, Katrin; Tammur, Pille; Tõnisson, Neeme; Salumets, Andres; Jatsenko, Tatjana
Publisher: BioMed Central
Date: 2019-06-18
Abstract: Abstract Background Balanced translocation carriers are burdened with fertility issues due to improper chromosome segregation in gametes, resulting in either implantation failure, miscarriage or birth of a child with chromosomal disorders. At the same time, these individuals are typically healthy with no signs of developmental problems, hence they often are unaware of their condition. Yet, because of difficulties in conceiving, balanced translocation carriers often turn to assisted reproduction, some of whom may also undergo preimplantation genetic testing for aneuploidy (PGT-A) to improve the likelihood of achieving a successful pregnancy. Case report We describe a female patient, who pursued in vitro fertilization (IVF) treatment coupled with PGT-A following two consecutive miscarriages, unaware of her genetic condition. PGT-A was performed on blastocyst-stage embryos and the results of comprehensive chromosome screening from a first IVF cycle demonstrated reciprocal segmental aberrations on chromosome 7 and chromosome 10 in two out of four embryos. Due to distinct embryo profiles, the couple was then referred for genetic counselling and subsequent parental karyotyping revealed the presence of a previously undetected balanced translocation in the mother. Conclusions These results confirm previous reports that genome-wide PGT-A can facilitate the identification of balanced translocation carriers in IVF patients, providing explanation for poor reproductive outcome and allowing adjustments in treatment strategies.
Subject: Balanced translocations
Preimplantation genetic testing
Next-generation sequencing
Rights: The Author(s).

Files in this item

Total number of downloads: Loading...

Files Size Format View
13039_2019_Article_444.pdf 763.9Kb PDF View/Open

This item appears in the following Collection(s)

Show full item record