PGDA NGS 360°™
PGD NGS for aneuploidy screening

What is PGDA-NGS 360°™?

PGDA NGS 360°™ (preimplantation genetic testing for aneuploidy screening using Next Generation Sequencing) employs state of the art human genome sequencing techniques (direct reading of genetic information) to examine embryos. It opens up new diagnostic possibilities.

In the past, embryos were selected mainly based on the basis of their morphology, The FISH and microarray methods were used for chromosome analysis. However, both techniques were limited in terms of range and accuracy. But with the PGDA NGS 360°™, all 24 chromosomes are analysed with unprecedented precision. This provides doctors with a unique opportunity to help couples exposed to increased risk of genetic abnormalities in their children.

Chromosomal aneuploidy (an abnormal number of chromosomes) is one of the main causes for the failure of IVF programs. Most embryos with aneuploidies are unable to nest in the uterus, and those that are implanted often miscarry in the first three months of the pregnancy 1, 2. Preimplantation genetic diagnosis used to provide optimal selection of embryos for transfer, can greatly increases the chances of success of the procedure and the birth of a healthy child.

Figure 1. Results of IVF programs after PGDA NGS 360°™ using NGS

Why is it worth doing the PGDA NGS 360°™?

• Analyses all autosomal and sex chromosomes

• Allows for diagnosis of the most common genetic defects, including: Downs, Edwards, Patau, Turner, and Klinefelter’s syndrome, while still at the embryo stage

• Increases the embryo implantation rate

• Reduces the risk of miscarriage

• Increases the number of healthy births

• Increases the efficiency of single embryo transfer by reducing the number of multiple pregnancies

Table 1. The results of efficacy studies of IVF programs in patients with Repeated Implantation Failure (RIF) using the PGDA NGS 360°™.

What are the indications for a PGDA NGS 360°™?

• Age of woman over 35

• Failure of IVF programs (although embryos of normal morphology were transferred)

• Recurrent miscarriages

• Genetic defects diagnosed in previous pregnancies / birth of a child with genetic abnormalities in the past

• A history of genetic defects in the family

• The intention of ruling out the presence of genetic defects in previously frozen embryos

• Need to increase the chances of pregnancy in an IVF cycle with donor cells

• Fear of childbirth with chromosomal defects

Cooperation step by step

Limitations

This test is designed to detect aneuploidy and/or irregularities from Roberstonian translocation. This test does not detect partial aneuploidy (i.e. fragments of chromosomes) or chromosome mosaicism and structural chromosomal abnormalities (e.g. a fragments of chromosome deletions, inversions, duplications) or uniparental disomy, triploidy and tetraploidy.