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.

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PGD TRS™
Pre-implantation diagnosis for
translocations

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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.

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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.

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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™?

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• 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™?

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• Confirmed presence of a translocation in an individual trying
for a child.
Indications for PGD TRS™?

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

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Cooperation step by step

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Cooperation step by step cont.

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Limitations
The test provides information on the status of chromosomes involved in translocation. The test does not determine the status of other chromosomes. The
absence of lost or extra fragments in chromosomes involved in translocations does not exclude the presence of changes in the number or structure of other
chromosomes. The probability of detecting derivative regions of translocations depends on the location of the points of breakage on chromosomes and
on 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 given
patient with confirmed translocation. Techniques other than NGS may be applied in the test if the patients’ situation so requires. The NGS technique for this
test 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

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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 in
the world. It ensures extremely accurate, reliable and comprehensive result
which allows examining cells collected from embryos for the presence of
translocations of various types.

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

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Literature
1. 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.

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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.

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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.D
Director of INVICTA IVF Laboratory
18 embryologists
Counseling
Karolina Ochman, Ph.D.
Director of INVICTA Genetic Consulting Team
3 genetics counselors
Genetics
Embryology
Clinical
Our Team
Comprehensive approach to ART

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INVICTA GENETICS
Trzy Lipy 3, Gdansk 80-172 , Poland
T. +48 58 58 58 804
M. info@invictagenetics.com
W. invictagenetics.com
About INVICTA GENETICS
INVICTA is an experienced genetics laboratory (since 2000)
offering wide range PGD / PGS tests using state of art
Next Generation Sequencing (NGS) techniques.