imge test™ - invicta genetics laboratory · e–mail: genetyka@invicta.pl • tel.: +48 784 373...
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Genetic Laboratory
Innovators in Reproductive Genetics
Genetic diagnosis of miscarriages
iMGE Test™
iMGE Test™ Identification of the causes of miscarriage
of 1000 pregnancies with chromosomal defects are miscarriedGenetic 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.
Identification of the cause of miscarriage may help in planning an optimal course of treatment for couples who experienced pregnancy loss.
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.
The majority of chromosomal defects in such cases are aneuploidies, i.e. chromosomal number abnormalities.
997
Without the chromosome analysis
Unexplained
Other significant factors80%
20%
With the chromosome analysis
Fetal chromosome abnormalities
Unexplained
Other significant factors
62%
20%
18%
With the chromosome analysis based on NGS technique
Remaining
Aneuploidies96%
4%
* 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.).
Test which detects the presence of chromosomal defects and identifies sex of the miscarried fetus.
INVICTA Genetic Laboratory offers:
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.
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
If the genetic causes of miscarriage are identified, the following actions are recommended:
genetic consultation undertaking appropriate diagnosis and therapeutic steps Pre–implantation Diagnosis
Specialist collection kit Free transport Online access to the results
In the case of miscarriage, testing for genetic conditions should be routinely conducted in order to determine the probable cause of pregnancy loss.
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 is iMGE Test™?
Why is it worth to perform iMGE Test™?
What next?
Indications for iMGE Test™
Sample collection• Targeted biopsy during
the procedure typically performed by the physician after the miscarriage
Preparation of the sample• Place in the solution of
physiological saline
Filling the referral note
Preparation of the material fortransport• Transport at temperature of 2–8°C
Preparation of shipping document
Shipment to the INVICTAGenetic Laboratory• To be delivered within 48 hours
since the collection time• Until it is sent, store at temperature
of 2–8°C
Sample collection• Targeted biopsy during the
procedure typically performed by the physician after the miscarriage
• preparation of the paraffin block in the histopathological laboratory
Preparation of the sample• Place the block in the transport
container
Filling the referral note
Preparation of the material fortransport• Transport at room temperature
Preparation of shipping document
Shipment to the INVICTAGenetic Laboratory• To be delivered ANY time since
the collection
Cooperation step by step
NGS methodology
Shipping address: INVICTA Genetics LaboratoryGdańsk Science and Technology Parkul. Trzy Lipy 3, 80–172 GdańskE–mail: genetyka@invicta.pl • Tel.: +48 784 373 593
Sample preparation
Libraries preparation with barcoding
Sequence preparation
Information read-out
Data analysis
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
Limitations
Sample collection & preparation
Transport
Result
1
2
3
Fresh material Paraffin block
Ready–to–use universalINVICTA Collection Kit
Results available within 7-14 days Results available within 7-14 days
First in the world use of NGS (Next Generation Sequencing) in the genetic diagnosis of miscarriages.
INVICTA Genetics Laboratory, July 2014.
Performing iMGE 24 Test™ ensures accuracy of 99.999% (quality assessment of Q50 acc. to Phred Quality Scores – the most common metric used to assess accuracy of a sequencing platform).
iMGE XY Test™ iMGE+ Test™ iMGE 24 Test™
ScopeX, Y chromosomes(identification of sex)
chromosome 13, 15, 16, 18, 21, 22; X and Y chromosomes
allchromosomes
Method
PCRPolymerase chainreaction
QF–PCRQuantitative Fluorescence Polymerase Chain Reaction
NGSNext GenerationSequencing
Reading2 places of AMELY and SRY on X and Y chromosome
42 placeson 8 chromosomes
100,000 places onall chromosomes
99,999%
Options INVICTA’s genetic diagnosis of miscarriages
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.
NGS Next Generation Sequencing
Literature
Prof. Krzysztof Łukaszuk MD, Ph. D.Medical Directorof INVICTA Fertility Clinics
Bożena Maj M. Sc.Director of INVICTAMedical Laboratories
Sebastian Pukszta Ph.D.INVICTA Genetic LaboratoryDeputy Laboratory Managerfor Molecular Biology
Joanna Liss Ph.DDirector of INVICTAIVF Laboratory
Team
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 Genetic Laboratory
Gdańsk Science and Technology ParkTrzy Lipy 3, 80–172 GdańskT: +48 58 58 58 804
INV.10.M
AR.PRO
.108.01_EN www.invictagenetics.com
Customer Service
M: info@invictagenetics.comT: +48 784 373 593F: +48 58 746 30 02
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