pgd trs™. pre-implantation diagnosis for translocations

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PGD TRS™ Pre-implantation diagnosis for

translocations


PGD TRS™

PGD TRS™ preimplantation diagnosis allows examining the cells collected from embryos for the presence of abnormalities resulting from balanced reciprocal translocations in parents. This testing technique is adapted to the needs of a given patient.


Chances for pregnancy with the use of PGD TRS™

There are also situations where a chromosome fragment is missing (deletion) or is duplicated (duplication) or changes location (insertion). There can also be cases of “de novo”translocations, i.e. the occurrence ofaltered chromosomes in the child whose parents have normal karyotype.


PGD diagnosis for translocations consists in the examination of the embryo’s genetic material for the presence of abnormal fragments or entire chromosomes involved in translocation.

It has to be stressed that carriers of chromosomal translocation are also exposed to higher risk of disorders in the number of other chromosomes, unrelated to chromosomes involved in translocation. It is recommended to complement the PGD TRS™ targeting the chromosomes involved in translocation with the comprehensive diagnosis for aneuploidies in all chromosomes – PGS NGS 360°™.

What is PGD TRS™?


•Most reproductive cells of the translocation carrier are abnormal, which causes poorer prognosis for fertilisation and development of healthy children. PGD TRS™ allows selecting normal embryos, thus significantly reducing the risk of reproductive failure.

•PGD TRS™ allows checking for the occurrence of a “de novo” abnormality of the genetic material number in the embryo.

•Preimplantation diagnosis reduces the risk of miscarriages and increases chances for giving birth to a healthy child.

Why is it worth to perform PGD TRS™?


• Confirmed presence of a translocation in an individual trying for a child.

Indications for PGD TRS™?


• Specialist Collection Kit INVICTA PGD BIOPSY KIT™• Free transport• Online access to the results

INVICTA Genetic Laboratory provides:


Cooperation step by step


Cooperation step by step cont.


Limitations

The test provides information on the status of chromosomes involved in translocation. The test does not determine the status of other chromosomes. Theabsence of lost or extra fragments in chromosomes involved in translocations does not exclude the presence of changes in the number or structure of otherchromosomes. The probability of detecting derivative regions of translocations depends on the location of the points of breakage on chromosomes andon the size of regions being subject to translocation. The type of technique used in the test is determined depending on the individual situation of a givenpatient with confirmed translocation. Techniques other than NGS may be applied in the test if the patients’ situation so requires. The NGS technique for thistest has been validated for detecting genetic material losses or gains involving a fragment larger than 5 Mpz in the material constituting blastocyst cells. The reliability of this technique is lower in case of translocations where breakage regions are located near telomeres or centromeres.

NGS methodology


Next Generation Sequencing

The first in the world use of NGS (Next Generation Sequencing) technology in the clinical practice in preimplantation diagnosis for translocations.INVICTA Genetic Laboratory, August 2013

NGS is at present the most innovative technique of DNA analysis available inthe world. It ensures extremely accurate, reliable and comprehensive resultwhich allows examining cells collected from embryos for the presence oftranslocations of various types.


32 possibilities of the genetic material distribution in the reproductive cellsproduced by the balanced translocation carrier.


Literature1. Lukaszuk K, Pukszta S, Ochman K, Cybulska C, Liss J,Pastuszek E, Zabielska J, Woclawek-Potocka I. Healthy Baby Born to a Robertsonian Translocation Carrier following Next-Generation Sequencing-Based Preimplantation Genetic Diagnosis: A Case Report. AJP Rep. 2015 Oct;5(2):e172-5.2. Łukaszuk K, Pukszta S, Wells D, et al. Routine use of next-generation sequencing for preimplantation genetic diagnosis of blastomeres obtained from embryos on day 3 in fresh in vitro fertilization cycles. Fertil Steril 2015;103:1031–6.3. Munné S, Sandalinas M, Escudero T, et al. Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril 2000;73:1209–18.4. Verlinsky Y, Tur-Kaspa I, Cieslak J, et al. Preimplantation testing for chromosomal disorders improves reproductive outcome of poor prognosis patients. Reprod Biomed Online 2005;11:219–25.5. Fischer J, Colls P, Escudero T, et al. Preimplantation genetic diagnosis (PGD) improves pregnancy outcome for translocation carriers with a history of recurrent losses. Fertil Steril 2010;94:283–9.6. Gianaroli L, Magli MC, Ferraretti AP, Munne S, Balicchia B, Escudero T, Crippa A. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 2002;17:3201–3207.7. Fiorentino F, Kokkali G, Biricik A, et al. Polymerase chain reaction based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations. Fertil Steril 2010;94:2001–11.8. Rabinowitz M, Ryan A, Gemelos G, Hill M, Baner J, Cinnioglu C, et al. Origins and rates of aneuploidy in human blastomeres. Fertil Steril 2012;97:395–401. Traversa MV, Carey L, Leigh D. A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers. Mol Hum Reprod 2010;16:329–37.9. Yin X, Tan K, Vajta G, Jiang H, Tan Y, Zhang C, et al. Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts. Biol Reprod 2013;88:1–6.


Literature cont.10. Lim CK, Cho JW, Song IO, Kang IS, Yoon YD, Jun JH. Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal translocations with or without acrocentric chromosomes. Fertil Steril 2008;90:2144–2151.11. Traversa MV, Carey L, Leigh D. A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers. Mol Hum Reprod 2010;16:329–337.12. Fiorentino F, Spizzichino L, Bono S, et al. PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod 2011;26:1925–35.13. Handyside AH. 24-Chromosome copy number analysis: a comparison of available technologies. Fertil Steril 2013;100:595–602.14. Martín J, Cervero A, Mir P, et al. The impact of nextgeneration sequencing technology on preimplantation genetic diagnosis and screening. Fertil Steril 2013;99:1054–61.15. Wells D, Kaur K, Grifo J, et al. Clinical utilization of a rapid low-pass whole genome sequencing technique for the diagnosis of aneuploidy in human embryos prior to implantation. J Med Genet 2014;51:553–62.16. Le Caignec C, Spits C, Sermon K, et al. Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res 2006;34:e68.


Krzysztof Łukaszuk, Prof. Ph.D., M.D.Medical Director of INVICTA Fertility Clinics

21 Doctors specializing in infertility treatment

Sebastian Pukszta, Ph.D.Director of INVICTA Genetic Laboratory

35 specialists in molecular biology, cytogenetics and microbiology

Joanna Liss, Ph.DDirector of INVICTA IVF Laboratory

18 embryologists

Counseling

Karolina Ochman, Ph.D.Director of INVICTA Genetic Consulting Team

3 genetics counselors

Genetics

Embryology

Clinical

Our TeamComprehensive approach to ART


INVICTA GENETICS Trzy Lipy 3, Gdansk 80-172 , PolandT. +48 58 58 58 804M. [email protected]. invictagenetics.com

About INVICTA GENETICSINVICTA is an experienced genetics laboratory (since 2000)

offering wide range PGD / PGS tests using state of art Next Generation Sequencing (NGS) techniques.

pgd trs™. pre-implantation diagnosis for translocations

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