Healthy Baby Born to a Robertsonian Translocation Carrier following Next-Generation Sequencing-Based Preimplantation Genetic Diagnosis: A Case Report

Autor: Krzysztof Lukaszuk, Sebastian Pukszta, Karolina Ochman, Celina Cybulska, Joanna Liss, Ewa Pastuszek, Judyta Zabielska, Izabela Woclawek-Potocka
Jazyk: angličtina
Rok vydání: 2015
Předmět:
Zdroj: American Journal of Perinatology Reports, Vol 05, Iss 02, Pp e172-e175 (2015)
Druh dokumentu: article
ISSN: 2157-6998
2157-7005
DOI: 10.1055/s-0035-1558402
Popis: Abstract Preimplantation genetic diagnosis (PGD) is well established method for treatment of genetic problems associated with infertility. Moreover, PGD with next-generation sequencing (NGS) provide new possibilities for diagnosis and new parameters for evaluation in, for example, aneuploidy screening. The aim of the study was to report the successful pregnancy outcome following PGD with NGS as the method for 24 chromosome aneuploidy screening in the case of Robertsonian translocation. Day 3 embryos screening for chromosomal aneuploidy was performed in two consecutive in vitro fertilization (IVF) cycles, first with fluorescent in situ hybridization (FISH), and then with NGS-based protocol. In each IVF attempt, three embryos were biopsied. Short duration of procedures enabled fresh embryo transfer without the need for vitrification. First IVF cycle with the embryo selected using PGD analysis with the FISH method ended with pregnancy loss in week 8. The second attempt with NGS-based aneuploidy screening led to exclusion of the following two embryos: one embryo with 22 monosomy and one with multiple aneuploidies. The transfer of the only euploid blastocyst resulted in the successful pregnancy outcome. The identification of the euploid embryo based on the NGS application was the first successful clinical application of NGS-based PGD in the case of the Robertsonian translocation carrier couple.
Databáze: Directory of Open Access Journals
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