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iMGE Test™
Miscarriage Genetic Evaluation Test

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.

Request iMGE Kit
Identification of the causes of miscarriage

Figure 1. Without the chromosome analysis is a group

Figure 2. With the chromosome analysis

Figure 3. With the chromosome analysis based on NGS technique

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

   
Table 1. Options INVICTA’s genetic diagnosis of miscarriages

Identification of the cause of miscarriage may help in planning an optimal course of treatment for couples who experienced pregnancy loss.
iMGE XY TestiMGE+ TestiMGE 24 Test
ScopeX, Y chromosomes (odentification of sex)
chromosome
13, 15, 16, 18, 21, 22; X and Y chromosomes		all chromosomes
MethodPCR
Polymerase chain reaction		QF-PCR Quantitative Fluorescence Polymerase Chain ReactionNGS Next Generation Sequencing
Reading2 places of AMELY and SRY on X and Y chromosome42 places on 8 chromosomes100 000 places on all chromosomes
0

of 1000 pregnancies with chromosomal defects are miscarried

What are the indications for iMGE Test™

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
  • tcouples 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
  • tundertaking 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
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.

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.

Documents
iMGE Test™. Genetic diagnosis of miscarriages.