In vitro fertilization outcomes after preimplantation genetic testing for chromosomal structural rearrangements comparing fluorescence in-situ hybridization, microarray comparative genomic hybridization, and next-generation sequencing

Bartels, Chantal; Makhijani, Reeva; Godiwala, Prachi N.; Bartolucci, Alison; Nulsen, John; Grow, Daniel R.; Engmann, Lawrence; Benadiva, Claudio

doi:10.1016/j.xfre.2020.09.011

Cited by 4 publications

(9 citation statements)

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“…The genetic testing in this study was performed by NGS, it allowed to identify and screen for embryos with reduced viability such as mosaic embryos and those with partial aneuploidies or triploidy. Other studies revealed that NGS improves pregnancy outcomes versus array comparative genomic hybridization ( 14 ), there was a tendency towards a higher live birth rate for NGS testing in comparison with fluorescence in-situ hybridization and microarray comparative genomic hybridization ( 15 ).…”

Section: Discussionmentioning

confidence: 99%

Implementation and Evaluation of Preimplantation Genetic Testing at Vilnius University Hospital Santaros Klinikos

Stukaitė-Ruibienė

Gudlevičienė

Amšiejienė

et al. 2022

AML

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Background and Objectives: The most effective treatment of infertility is in vitro fertilization (IVF). IVF with Preimplantation Genetic Testing (PGT) allows to identify embryos with a genetic abnormality associated with a specific medical disorder and to select the most optimal embryos for the transfer. PGT is divided into structural rearrangement testing (PGT-SR), monogenetic disorder testing (PGT-M), and aneuploidy testing (PGT-A). This study mostly analyzes PGT-SR, also describes a few cases of PGT-M. The aim of this study was to implement PGT procedure at Vilnius University Hospital Santaros Klinikos (VUHSK) Santaros Fertility Centre (SFC) and to perform retrospective analysis of PGT procedures after the implementation.Materials and Methods: A single-center retrospective analysis was carried out. The study population included infertile couples who underwent PGT at SFC, VUHSK from January 01st, 2017 to December 31st, 2020. Ion PGM platform (Life Technologies, USA) and Ion ReproSeq PGS View Kit (Life Technologies, USA) were used for the whole genome amplification. Results were assessed using descriptive statistics.Results: PGT was successfully implemented in VUHSK in 2017. During the analyzed time period, thirty-four PGT procedures were performed for 26 couples. Two procedures were performed in 2017, 7 procedures – in 2018, 13 – in 2019, and 12 – in 2020. In comparison with all IVF procedures, 2.5% procedures were IVF with PGT, a highest percentage was in 2020 (3.8% of all procedures). The main indication for PGT was balanced chromosomal rearrangements (in 85.3% cases). In all 34 cases 515 oocytes were aspirated in total, 309 oocytes were fertilized, oocytes fertilization rate exceeded 60%. A normal diploid karyotype was found in 46 (16.8%) biopsied embryos. Out of all PGT procedures, 9 (26.5%) resulted in a clinical pregnancy. Six (66.7%) pregnancies were confirmed in 2019, and 3 (33.3%) – in 2020. Three (33.3%) pregnancies resulted in spontaneous abortion, 6 (66.7%) – in delivery.Conclusions: The implementation of PGT in VUHSK was successful. The most common indication for PGT was a reciprocal translocation. Oocytes fertilization rate exceeded 60%, a normal karyotype was found less than in one-fifth of biopsied embryos. A highest clinical pregnancy rate was achieved in 2019 when almost half of women conceived, which is probably related to the experience gained by the multidisciplinary team. This is the first study analyzing IVF with PGT in Lithuania, however, the results should be interpreted with caution due to a low number of total procedures performed.

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Section: Discussionmentioning

confidence: 99%

Implementation and Evaluation of Preimplantation Genetic Testing at Vilnius University Hospital Santaros Klinikos

Stukaitė-Ruibienė

Gudlevičienė

Amšiejienė

et al. 2022

AML

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“…In addition to different methods of karyotyping, there are various genetic testing methods used for PGT-SR. A recently published study by Bartels et al. ( 9 ) describes differences in implantation rates and pregnancy outcomes depending on the PGT-SR technology used. The study finds NGS to provide superior outcomes compared with the use of FISH, and array comparative genomic hybridization.…”

Section: Discussionmentioning

confidence: 99%

“…Cytogenetic analysis and diagnosis of translocations in adults and children are historically performed by Giemsa staining (G-banding) and/or fluorescence in situ hybridization (FISH) ( 6 , 7 ), with FISH providing a higher level of resolution. The identification of translocations present in PGT-SR embryos are normally tested by FISH, array comparative genomic hybridization, quantitative polymerase chain reaction (qPCR), single nucleotide polymorphism array, or next-generation sequencing (NGS) ( 8 , 9 ). The genetic testing method used for PGT-SR can significantly affect the outcome of the IVF cycle.…”

Section: Introductionmentioning

confidence: 99%

“…The genetic testing method used for PGT-SR can significantly affect the outcome of the IVF cycle. Next-generation sequencing has been shown to result in superior pregnancy outcomes compared with other methods of testing ( 9 ). The pregnancy outcome differences between testing methods again demonstrates the complexity of accurately identifying translocations.…”

Section: Introductionmentioning

confidence: 99%

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Complex reciprocal translocations, more complex than initially thought: a case report

Dufton

Bouzayen

2021

F&S Reports

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Objective: To present a case of a couple who experienced spontaneous abortion after the transfer of a preimplantation genetic testing for structural rearrangement (PGT-SR) normal/balanced embryo. The embryo was later determined to have significant paternally inherited chromosome deletion that was not previously identified as part of a complex translocation. Design: Case report. Setting: Single infertility practice. Patient(s): A 35-year-old patient with a history of five spontaneous abortions and her 36-years-old partner, a carrier of a balanced reciprocal translocation. Intervention(s): In vitro fertilization with PGT-SR and follow-up genetic testing. Main Outcome Measure(s): Identification of a paternal reciprocal translocation, pregnancy outcome after PGT-SR, and follow-up genetic testing after the spontaneous abortion of a PGT-SR normal/balanced embryo. Result(s): Karyotyping for a couple with a history of recurrent pregnancy loss identified a paternal reciprocal translocation between chromosomes 5 and 17 after G-banding analysis. In vitro fertilization with PGT-SR resulted in one normal/balanced embryo. The couple experienced a 9-week spontaneous abortion of the transfer of the embryo. Testing of product of conception identified a 3.2-Mb deletion on chromosome 17 resulting in the loss of 55 known genes and deemed likely pathogenic. Repeat karyotyping using G-banding and metaphase fluorescence in situ hybridization identified an additional chromosomal translocation, a segment of chromosome 17 translocated to chromosome 6, the same segment of deoxyribonucleic acid absent from the fetus. Conclusion(s): Preimplantation genetic testing for structural rearrangement cases are complex. Genetic testing must be completed with the best available technology by a reliable testing center. We, therefore, recommend that all chromosomal translocations detected by G-banding be further investigated with metaphase fluorescence in situ hybridization. When unexpected results occur in this patient population, testing beyond the standard of care may be required, including advanced molecular testing. (Fertil Steril Rep Ò 2021;-: ---. Ó2021 by American Society for Reproductive Medicine.

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“…Next-generation sequencing (NGS) is a newer technology that is increasingly being used for PGT [8]. NGS has been shown to result in superior pregnancy outcomes compared with the use of fluorescence in situ hybridization, and array comparative genomic hybridization [9]. NGS has a high sensitivity and specificity for detecting the segmental and whole chromosome [10].…”

Section: Introductionmentioning

confidence: 99%

Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report

Kim²,

Park

et al. 2022

J Genet Med

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Complex chromosome rearrangements (CCRs) are structural chromosomal rearrangements involving at least three chromosomes and more than two breakpoints. CCR carriers are generally phenotypically normal but related to higher risk of recurrent miscarriage and having abnormal offspring with congenital anomalies. However, most of CCR carriers are not aware of their condition until genetic analysis of either abortus or affected baby or parental karyotyping is performed. Herein, we present the case that CCR carrier patients can be identified by preimplantation genetic testing of preimplantation embryos. An infertile male patient with severe oligoasthenoteratozoospermia was diagnosed balanced reciprocal translocation, 46,XY,t(3;11) (p26;p14) at first. After attempting the first preimplantation genetic testing for structural rearrangement (PGT-SR) cycle, we found the recurrent segmental gain or loss on 21q21.3-q22.3 of five out of nine embryos. As a result of karyotype re-analysis, the patient's karyotype showed a balanced CCR involving chromosomes 3, 11, and 21 with three breakpoints 3p26, 11p14, and 21q21. The patient underwent two PGT-SR cycles, and a pregnancy was established after the transfer of an euploid embryo in the second cycle. Amniocentesis confirmed that the baby carried normal karyotype without mosaicism. At 37 weeks gestation, a healthy girl weighting 3,050 g was born.

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In vitro fertilization outcomes after preimplantation genetic testing for chromosomal structural rearrangements comparing fluorescence in-situ hybridization, microarray comparative genomic hybridization, and next-generation sequencing

Cited by 4 publications

References 44 publications

Implementation and Evaluation of Preimplantation Genetic Testing at Vilnius University Hospital Santaros Klinikos

Implementation and Evaluation of Preimplantation Genetic Testing at Vilnius University Hospital Santaros Klinikos

Complex reciprocal translocations, more complex than initially thought: a case report

Identification of unbalanced complex chromosomal rearrangements in IVF-derived embryos during NGS analysis of preimplantation genetic testing: A case report

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