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Reproductive Genomics

Assisted reproduction is becoming rampant in all parts of the world, especially, in the middle-east where lifestyles and genetics combine resulting in fewer births every year. Genetic factors contributing to this phenomenon result from consanguinity, lower vitamin D levels, advanced maternal age and others. Testing of embryonic or fetal markers from such embryos and incorporation of tests for early identification of many genetic abnormalities is gaining momentum in this region. With the advent of Next Generation Sequencing (NGS) such tests can be carried out non-invasively early in the pregnancy, namely, non-invasive prenatal screening test (NIPT). Also, tests such as PGS and PGD can be carried out on single cells from an 8 cell blastocyst to ensure implantation of healthy embryos.

Solutions from

  • NIPT
  • PGS
  • Male Infertility

NIPT: For NIPT we feature the IONA® test from Premaitha Health. This is the first CE-IVD marked screening test which can be deployed at clinical laboratories or offered as a service for healthcare professionals. This test looks at the fetal DNA fraction in 10ml of mother’s blood sample and screens for Trisomy 21, 18 and 13.

The IONA® test is carried out on the ION Torrent instruments from Thermo Scientific. The test boasts the following features:

  • Test records changes in the proportion of chromosome 21, 18 and 13 in maternal plasma using whole genome shotgun Sequencing.
  • The complete workflow can be carried out in 3 days and all steps from DNA extraction to analysis are integrated
  • The IONA software for analysis is a dedicated bioinformatics software integrated into the workflow
  • Automation with LIS allows for paperless integration from patient data tracking from receipt to final report
  • The only test that works with at least 2% or greater amount of fetal fraction. Note: Samples from expectant mothers result in lower fetal fraction
  • Lower re-draw rates of less than 0.5% means less repeats and faster turnaround times

About NIPT from Premaitha health: Read more

More on Yourgene’s Sage™ analysis from Premaitha Health

Pre Implantation Genetic Diagnosis (PGS): Typically carried out on Day 3 or Day 5 embryos, it involves genetic (chromosomal) analysis of biopsied cell from the embryo. It allows identification of any genetic abnormalities in the embryo’s and is typically used in in vitro fertilization cases with advanced maternal age, male infertility factor, recurrent implantation or multiple pregnancy loss. Couples who have a previous child with a serious genetic conditions opting for assisted reproduction (not natural birth) also undergo this test to ensure genetic traits are not passed on to other progeny.

The ReproSeq PGS Kits use next generation sequencing (NGS) for aneuploidy detection across 24 chromosomes (22 autosomes and X/Y chromosome).

Steps in an Ion ReproSeq PGS workflow are:

Recommended Kits:

Kit Name Catalogue Number
Ion ReproSeq Kits with chips A32243, A32249, A32250
Ion ReproSeq Kits without chips A32251,A32252, A32253
Ion S5 systems  
Ion Reporter Software v 5.4  

Typical data after PGS analysis:

Male Infertility, Y-microdeletion analysis and Recurring Pregnancy Loss (RPL) diagnosis:

Catalogue Number Kit Name Technique Additional information
AZFPLBX Elucigene MFI-Y plus Kit Capillary Sanger sequencing It can be used with the Male factor infertility kit for identifying published Y-chromosome deletions.
AZFXYB1 Elucigene Male Factor Infertility Kit, IVD-CE Quantitative fluorescence PCR (QF-PCR) The kit detects sex chromosome aneuploidy and Y-chromosome deletions (AZF abc regions).
AN6XYB1 Elucigene QST*R-PL pregnancy loss kit, IVD-CE Capillary Sanger sequencing The kit detects six common autosomal trisomies (13, 15, 16, 18, 21 and 22) using DNA from products of conception or fetus derived tissue. Enables risk assessment and management of future pregnancies.
ANE21BX Elucigene QST*R-21 Euplex Quantitative fluorescence PCR (QF-PCR) To be used with QST*R or QST*RplusV2 IVD kits for analysis of trisomy on chromosome 21. Starting sample is DNA from amniotic fluid or chorionic villus samples (CVS) collected during amniocentesis.

Consumables and Instruments:

Product Name Catalogue Number
Nunc™ 4-Well Dishes for IVF Nunc™ IVF ICSI Dishes 150265
Nunc™ IVF Petri Dishes 150255
Nunc™ 4-Well Dishes for IVF 144444
Nunc™ Center Well Dish for IVF, Center well 150260
RA Lamb Embryo Dishes E90
Nunc™ IVF 11mL Centrifuge Tube 137860
CryoMed™ Controlled-Rate Freezers 7452,7450,7454
CryoMed™ Controlled-Rate Freezer IVF accessories 180255, 4000710
4000711, 4000714
EVOS™ Vessel Holder, Nunc™/SPL IVF 4-well dish AMEPVH011


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