Claria From MedGenome

MedGenome is driven to enable clinicians to deliver the best outcomes to their patients. Our passion to deliver actionable insights to clinicians has resulted in the development of “Claria” - a suite of NGS (Next-Generation Sequencing) technology-based solutions for reproductive testing.

Claria offers the most accurate Non-Invasive Prenatal Screening Test (NIPT), the Genetic Carrier Screening Test and the Preimplantation Genetic Screening/Diagnosis (PGS/PGD).

We understand your time is valuable, and that’s why Claria has a team of in-house genetic counsellors to help you interpret and explain reports.

Additionally, Claria offers an absolutely free, on-demand pre and post-test genetic counselling to all your patients.

What is Recurrent Pregnancy Loss (RPL)?
RPL is defined as three consecutive pregnancy losses prior to 20 weeks from the last menstrual period1
  • It is reported in approximately 1% to 2% of pregnant women
  • Current techniques can identify up to 50% of couples suffering from RPL2
  • Genetic causes account for about 2- 5% of RPL1
1. Ford HB, Schust DJ. Recurrent pregnancy loss: etiology, diagnosis, and therapy. Rev Obstet Gynecol 2009;2: 76-83.
2. Jaslow CR, Carney JL, KuttehWH. Diagnostic factors identified in 1020 women with two versus three or more recurrent pregnancy losses. Fertil Steril. 2010;93(4):1234–43
What are the genetic causes of RPL?
  • 30% to 50% of all miscarriages are due to cytogenetic reasons3
  • 2% to 4% of RPL is associated with a parental balanced structural chromosome rearrangement, most commonly balanced reciprocal or Robertsonian translocations1
  • Other reasons include chromosomal inversions, insertions, and mosaicism1
1. Ford HB, Schust DJ. Recurrent pregnancy loss: etiology, diagnosis, and therapy. Rev Obstet Gynecol 2009;2: 76-83.
2. Jaslow CR, Carney JL, KuttehWH. Diagnostic factors identified in 1020 women with two versus three or more recurrent pregnancy losses. Fertil Steril. 2010;93(4):1234–43.
3. Ogasawara M, Aoki K, Okada S, et al. Embryonic karyotype of abortuses in relation to the number of previous miscarriages. Fertil Steril. 2000;73: 300–304
Why do you need the RPL test?

The etiology of abortion is multifactorial and may involve endocrine, anatomic, immunological, infectious, environmental and genetic factors. RPL testing can detect if the pregnancy was lost due to an abnormal chromosome number (aneuploidy)

The information from RPL testing can be helpful for patients and physicians to understand the cause of miscarriage and to develop a plan to support a future successful pregnancy.

When can the RPL test be done?

When a couple experiences a second pregnancy loss they can consider getting a RPL test done. This involves testing the products of conception (POC). In addition to this parental karyotyping can be done alongside appropriate pre and post-test genetic counselling.

How is RPL testing done?

RPL testing is done by taking a small sample of the POC and checking for chromosomal abnormalities using standard techniques such as Karyotyping and Fluorescence In Situ Hybridization (FISH).

More advanced methods such as Chromosomal Microarrays (CMA) can offer a more in depth analysis of the defect going into microdeletions and microduplications that could have caused the miscarriage.

Advantages of CMA:
  • No cell culture is necessary
  • Highly sensitive platform with >99% sensitivity for detection of chromosomal deletion/duplications
  • The array has whole genome coverage and increase coverage targeting 396 regions relevant for prenatal analysis (18,018 CNV and 148,450 SNP)
  • Increased coverage density (25 markers/100 kb) in 396 empirically selected regions relevant for prenatal research
  • It can detect low levels of Mosaicism in the sample
  • A minimum resolution of 1 MB for losses, 2 MB for gains, and 5 MB for LOH/AOH (Loss/Absence of Heterozygosity
Parental Karyotyping

About 5% of couples with RPL have been known to carry Robertsonian translocations and balanced reciprocal translocations. Both the specific chromosome(s) affected, and the types of rearrangement influence the probability of a future live birth. Conventional karyotyping can be used in such cases. Standard method can detect most chromosomal abnormalities. Pre and post-test genetic counselling are essential 4

4. Regan L, Backos M, Rai R. 2011. Green-top GuidelineNo 17. The investigation and treatment of couples with recurrent first-trimester and second-trimester miscarriage. Royal College of Obstetricians and Gynaecologists (RCOG), London.
Who needs to get tested?
  • Any couple who have a pregnancy loss with fetal abnormalities
  • Couples with recurrent pregnancy loss
  • Couples undergoing IVF who have had repeated miscarriage
Why MedGenome

Our expertise in molecular diagnostics, result interpretation and genetic counselling put us the unique position to provide you with end to end solutions in the reproductive genetics space

At MedGenome we offer both the traditional Karyotyping and FISH service as well as advanced Chromosomal Microarray (CMA) based testing services

RPL workflow

POC Collection Sample prepKaryotyping or FISH or CMAAnalysis and interpretationReport Result

Report will be generated in 15 working days

chromosomal microarray mca

Talk to our genetic experts for free today or reach us

Our certified genetic specialists are available right now to discuss your queries before, during and after screenings.

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