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

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Tšuiko , O , Dmitrijeva , T , Kask , K , Tammur , P , Tõnisson , N , Salumets , A & Jatsenko , T 2019 , ' Detection of a balanced translocation carrier through trophectoderm biopsy analysis: a case report ' , Molecular cytogenetics , vol. 12 , no. 1 , 28 . https://doi.org/10.1186/s13039-019-0444-2

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
Contributor: University of Helsinki, HUS Gynecology and Obstetrics
Date: 2019-06-18
Language: eng
Number of pages: 6
Belongs to series: Molecular cytogenetics
ISSN: 1755-8166
URI: http://hdl.handle.net/10138/307822
Abstract: 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.
Subject: 3111 Biomedicine
Balanced translocations
Preimplantation genetic testing
PGT-A
IVF
Next-generation sequencing
PREIMPLANTATION GENETIC DIAGNOSIS
CHROMOSOMAL-ABNORMALITIES
RECIPROCAL TRANSLOCATIONS
IMPLANTATION FAILURE
INFERTILE COUPLES
POOR-PROGNOSIS
FREQUENCY
EMBRYOS
REARRANGEMENTS
PREVALENCE
1184 Genetics, developmental biology, physiology
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