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

Overview

Journal AJP Rep

Date 2015 Oct 24

PMID 26495179

Citations 4

Authors

Krzysztof Lukaszuk

Sebastian Pukszta

Karolina Ochman

Celina Cybulska

Joanna Liss

Ewa Pastuszek

Judyta Zabielska

Izabela Woclawek-Potocka

Affiliations

Soon will be listed here.

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.

Citing Articles

Interchromosomal effect in carriers of translocations and inversions assessed by preimplantation genetic testing for structural rearrangements (PGT-SR).

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Successful preimplantation genetic diagnosis by targeted next-generation sequencing on an ion torrent personal genome machine platform.

Hao Y, Chen D, Zhang Z, Zhou P, Cao Y, Wei Z Oncol Lett. 2018; 15(4):4296-4302.

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Next-generation Sequencing and Karyotype Analysis for the Diagnosis of Robertsonian Translocation Type Trisomy 13: A Case Report.

Sha J, Liu F, Zhang B, Huang Y, Zhang Q, Juan G Iran J Public Health. 2017; 46(6):848-851.

PMID: 28828329 PMC: 5558080.

Recent advances in preimplantation genetic diagnosis and screening.

Lu L, Lv B, Huang K, Xue Z, Zhu X, Fan G J Assist Reprod Genet. 2016; 33(9):1129-34.

PMID: 27272212 PMC: 5010808. DOI: 10.1007/s10815-016-0750-0.

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