Next Generation Sequencing (NGS) is used as a part of in vitro fertilization and provides comprehensive information concerning embryo’s DNA for diseases or genetic mutations. It provides physicians with a unique opportunity to help couples who are exposed to an increased risk of genetic abnormalities in the foetus. This is the first solution of this kind in the world.
Innovative possibilities of the NGS method in preimplantation genetic diagnosis
High accuracy in research
Accuracy of research: analysis of all 24 chromosomes at the same time shows an accuracy of more than 99.9% (higher accuracy if compared to the aCGH method).
Sensitivity research: direct reading (decoding) of the genetic information encoded in the DNA of the embryo.
Greater possibilities for the analysis of the embryo’s genome – the possibility of combining the research of chromosomal and monogenic diseases in a single analysis.
Safety of the embryo – only one embryo biopsy for the diagnosis of chromosomal and monogenic diseases.
Greater automation of the process – avoiding any mistakes from the moment of receiving material from the embryo.
Benefits of the NGS method in preimplantation genetic diagnosis
Analysis of all 24 chromosomes simultaneously with the highest accuracy compared to other methods.
Increasing of accuracy for the diagnosis of mosaic aneuploidies.
Possibility to distinguish a balanced set of chromosomes from a normal one.
Possibility to detect uniparental disomy (by analysis of samples of the parents).
Identification of haploid and triploid.
Possibility to identify the micro and macro rearrangements (5 bp).
Simultaneous diagnosis of chromosomal and monogenic diseases as well as other mutations.
Prospect of excluding a variety of pathogenic mutations in the future of the children, including screening couples with infertility, sperm and oocyte donors, and possibly even all people (for example cystic fibrosis, autism, intellectual disabilities, spinal-muscular atrophy, etc. to infinity).
The tendency in the long term to reduce the cost, repeating in the approximation the law of Murr for semiconductors.
Vitrification
In the fertility world, vitrification is used for cryopreservation of eggs, embryos, and sperm. Generally speaking, vitrification is a method of transforming something into a glass-like substance.
The word “vitrification” comes from the Latin term for glass, vitrum. Vitrification is the process of freezing so rapidly that that the water molecules don’t have time to form ice crystals, and instead instantaneously solidify into a glass-like structure. It’s a much more complicated practice than previous “slow freezing” methods, and it has yielded good results. Currently, pregnancy success rates from vitrification are comparable to fresh IVF cycles.
Vitrification uses an extremely quick freezing rate (approximately 15,000°C/min) for near-instantaneous freezing. Furthermore, vitrification suspends cryopreserved samples in a crystalline lattice structure that does not have ice crystal formation as a side effect. Many studies have shown very minimal damage that is caused as a result of any vitrification process. Additionally, vitrification technology allows specimens to be stored indefinitely, with little or no negative impact on the length of time the sample is stored. Vitrification has shown extremely encouraging results.
For further information about Vitrification, please click HERE
Oocyte cryopreservation (Egg Freezing)
Human oocyte cryopreservation (Egg Freezing) is a procedure to preserve a woman’s eggs (oocytes). This technique was mainly developed to enable women who, due to studies or any other complication can´t deal with pregnancy during their most fertile years, to postpone their maternity until their personal situation is the right to form a family. Several studies have proven that most infertility problems are due to germ cell deterioration related to aging. Surprisingly, the uterus remains completely functional in most elderly women. This implies that the factor which needs to be preserved are the woman’s eggs. The eggs are extracted, frozen and stored. The intention of the procedure is that, in the future, the woman may choose to have the eggs thawed, fertilized, and transferred to the uterus as embryos to facilitate a pregnancy. The procedure’s success rate (being the chances of a live birth using frozen eggs) varies depending on the age of the woman, and range from 14.8 percent (if the eggs were extracted when the woman was 40) to 31.5 percent (if the eggs were extracted when the woman was 25).
For further information about Oocyte cryopreservation (Egg Freezing), please click HERE
Semen cryopreservation (Sperm Freezing)
Semen cryopreservation(Sperm Freezing) is a procedure to preserve sperm cells. Semen can be used successfully indefinitely after cryopreservation. For human sperm, the longest reported successful storage is 24 years.
It could be used for preserving patient’s fertility undergoing vasectomy or treatments that may compromise their fertility, such as chemotherapy, radiation therapy or surgery.
For further information about Semen cryopreservation (Sperm Freezing),
please click HERE
Embryo cryopreservation (Embryo Freezing)
Embryo cryopreservation is useful for leftover embryos after a cycle of in vitro fertilisation, as patients who fail to conceive may become pregnant using such embryos without having to go through a full IVF cycle. Or, if pregnancy occurred, they could return later for another pregnancy.
The main techniques used for embryo cryopreservation are vitrification versus slow programmable freezing (SPF). Studies indicate that vitrification is superior or equal to SPF in terms of survival and implantation rates. Vitrification appears to result in decreased risk of DNA damage than slow freezing.
For further information about Embryo cryopreservation (Embryo Freezing), please click HERE
