iMGE Test™

Innovators in Reproductive Genetics!

iMGE Test™

Genetic diagnosis of miscarriages


INVICTA Miscarriage Genetic Evaluation Test

Identification of the cause of miscarriage may help in planning an optimal course of treatment for couples who experienced pregnancy loss.


Identification of the causes of miscarriage Over 60% of spontaneously

miscarried embryos/fetuses have chromosomal defect*.

Conducted by INVICTA chromosome analysis identified causes of pregnancy loss in 62% of all miscarriages which in other cases would remain unexplained.

*Information on the page refers to the analysis of the situation of women aged 35 and older who have experienced recurrent miscarriages. The majority of chromosomal defects in such cases are aneuploidies, i.e. chromosomal number abnormalities (Marquard et al. FertilSteril. 2010 Sep;94(4):1473–7)


iMGE Test™

Genetic errors in a developing embryo may cause early pregnancy loss, death of the embryo/fetus or premature delivery occur in the vast majority of cases. Therefore, the incidence of live births of children with chromosomal defects amounts only to 3 of 1000 births.

997

of 1000 pregnancies with chromosomal defects are miscarried


What is iMGE Test™?

Miscarriage Genetic Evaluation Test (Genetic Diagnosis of Miscarriages) – iMGE Test™ is a group of analyses of the miscarriage material performed with molecular biology techniques which allow to obtain information on the presence of chromosomal defects and about the sex of the fetus.

In contrast to classical cytogenetic methods:• the tests do not require in vitro cultivation prior to the analysis,• the results are obtained from over 95% of tests conducted,• the technique allows to avoid false positive results due to contamination with mother cell

material.


Why is it worth to perform iMGE Test™?

• It allows to detect the most frequent chromosomal defects which may cause miscarriages

• It allows quick and reliable determination of the fetus sex• NGS method allows simultaneous analysis of numerical changes in all

chromosomes which are present in human body


Indications for iMGE Test™

iMGE Tests is recommended in particular if miscarriage occurs in:

• women who decides to get pregnant after 35 years of age• couples who were diagnosed as the carriers of chromosomal defects• couples whose family presented with genetic defects (so–called positive genetic • history)• women who have history of recurrent miscarriages• couples whose in vitro programmes failed despite transferring embryos with

normal • morphology• couples who have been treated for idiopathic infertility for a long time


What next?

If the genetic causes of miscarriage are identified, the following actions are recommended:• genetic consultation• undertaking appropriate diagnosis and therapeutic steps• Pre–implantation Diagnosis


INVICTA Genetic Laboratory offers:

• Specialist collection kit• Free transport• Online access to the results


Cooperation step by step


Cooperation step by step cont.


Options diagnosis of miscarriages


Limitations

This test was designed to detect aneuploidies and imbalance resulting from Robertsonian translocations. It does not detect segmental aneuploidies, germline mosaicism related to aneuploidy, structural chromosome defects (e.g. deletion of the chromosome part, inversion, duplication), uniparental disomy, triploidy, tetraploidy

NGS methodology


Next Generation SequencingNGS is currently the most up–to–date method of analysing DNA information in the world. It ensures exceptionally precise, reliable and comprehensive result to determine the causes of miscarriage.

99,999%*

*NGS provides accuracy of 99.999% (Q50 quality assessment by Phred Quality Scores – indicator developed for evaluation of DNA sequence analysis methods).


Next Generation Sequencing

First in the world use of NGS (Next Generation Sequencing) in the genetic diagnosis of miscarriages.

INVICTA Genetics Laboratory: July 2014


Literature 1. Van den Berg MM, van Maarle MC, van Wely M, Goddijn M. Genetics of early miscarriage. Biochim Biophys Acta. 2012 Dec;

1822(12):1951–9. 2. Romero ST, Geiersbach KB, Paxton CN, Rose NC, Schisterman EF, Branch DW, Silver RM. Differentiation of genetic abnormalities in early

pregnancy loss. Ultrasound Obstet Gynecol. 2015 Jan; 45(1):89–94. 3. Vaiman D. Genetic regulation of recurrent spontaneous abortion in humans. Biomed J. 2015 Jan–Feb;38(1):11–24 4. Jenderny J. Chromosome aberrations in a large series of spontaneous miscarriages in the German population and review of the

literature. Mol Cytogenet. 2014 Jun 5;7:38. 5. Robberecht C, Schuddinck V, Fryns JP, Vermeesch JR. Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls. Genet

Med. 2009 Sep;11(9):646–54 6. Menasha J1, Levy B, Hirschhorn K, Kardon NB. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new

insights from a 12–year study. Genet Med. 2005 Apr;7(4):251–63 7. Choi TY, Lee HM, Park WK, Jeong SY, Moon HS. Spontaneous abortion and recurrent miscarriage: A comparison of cytogenetic diagnosis

in 250 cases. Obstet Gynecol Sci. 2014 Nov;57(6):518–25. 8. Kim JW, Lyu SW, Sung SR, Park JE, Cha DH, Yoon TK, Ko JJ. Shim SH. Molecular analysis of miscarriage products using multiplex ligation–

dependent probe amplification (MLPA): alternative to conventional karyotype analysis. Arch Gynecol Obstet. 2015 Feb;291(2):347–54 9. Donaghue C, Mann K, Docherty Z, Mazzaschi R, Fear C, Ogilvie C. Combined QF–PCR and MLPA molecular analysis of miscarriage

products: an efficient and robust alternative to karyotype analysis. Prenat Diagn. 2010 Feb;30(2):133–7. 10. Lathi RB, Gustin SL, Keller J, Maisenbacher MK, Sigurjonsson S, Tao R, Demko Z. Reliability of 46,XX results on miscarriage specimens:

a review of 1,222 first–trimester miscarriage specimens. Fertil Steril. 2014 Jan;101(1):178–82. 11. Furtado LV, Jama MA, Paxton CN, Wilson AA, Gardiner AE, Lyon E, Geiersbach KB. Aneuploidy detection in paraffin embedded tissue

from products of conception by mini–STR genotyping. Fetal Pediatr Pathol. 2013 Apr;32(2):133–50..


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.

iMGE Test™

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