Chromosomal analysis for genetic diseases of the embryo

When the reproductive system throws a curveball, the main drive for any couple is to do whatever it takes to conceive and deliver a healthy child. And chromosomal analysis is an indispensable method that ensures a successful selection of a healthy embryo for further implantation and development within the maternal organism. The procedure helps detect genetic abnormalities in the embryo before transferring it to the uterus. This way, we may prevent giving birth to children with various conditions and disabilities that could seriously impact their overall health and quality of life. This type of chromosomal analysis is the most accurate way to diagnose genetic conditions because it lets you check the quantity and quality of chromosome structures and the presence of abnormalities. It is especially beneficial for people who risk inheriting family-line diseases, women who have had unsuccessful IVF attempts or miscarriages, and those who have taken on the challenge of getting pregnant at an “advanced maternal age”. 
How does the embryo’s chromosomal analysis happen?Preimplantation genetic diagnosis (PGD) includes several stages:● Material retrieval: Eggs are extracted and fertilized in a laboratory setting.● Embryo cultivation: Embryos are grown in optimal laboratory conditions.● Cell biopsy: During a specific stage of embryo development, typically on the 3rd to 5th day, a few cells are extracted from the blastocyst for further analysis. This procedure does not harm the embryo's development.● Cell preparation for analysis: The obtained cells undergo specific procedures to ensure they can be analyzed.● Genetic analysis: The extracted cells are investigated for any deviations or mutations.● Selection of healthy embryos: Based on the results of chromosomal analysis, healthy embryos are chosen for subsequent implantation into the uterus and further pregnancy development.
Modern methods of chromosomal analysis of the embryoDepending on the specific situation or request, modern medicine gives us four primary approaches to the chromosomal analysis of the embryo:FISH (Fluorescence In Situ Hybridization) - a chromosomal analysis method that helps identify and determine specific pairs of chromosomes in cells. It employs special markers attached to particular DNA regions that light up under a fluorescent microscope. This aids in detecting anomalies and genetic deviations that may be the cause of various conditions.CGH (Comparative genomic hybridization) – a DNA examination method that detects changes in gene quantity (such as duplications or deficiencies) compared to a normal cell. It helps identify chromosomal abnormalities that can impact embryo development and lead to congenital defects.PCR (Polymerase Chain Reaction) - a technology that allows us to create millions of copies of a specific DNA fragment from a minuscule initial quantity. It employs special primers (short artificial DNA oligonucleotides) that match a specific genetic material sequence. The obtained DNA copies are then analyzed for mutations or deviations in the genome, which may indicate certain diseases.NGS (Next Generation Sequencing) - the most advanced DNA screening method, which rapidly and accurately determines the sequence of nucleotides in genes and other genome regions. It provides more detailed and comprehensive information compared to traditional sequencing methods. Furthermore, another advantage is that we may conduct a non-invasive analysis of genetic material, meaning the embryo does not require cell extraction or biopsy. This ensures the procedure's complete safety. And all research stages are fully automated, eliminating the influence of human factors.
The results of chromosomal analysis are typically ready within a few days. After receiving them, the doctor consults with the prospective parents to explain all possible options and consequences. This helps decide on any further reproductive strategies. If everything looks good, a consultation on embryo implantation is conducted. In the case of detected abnormalities, treatment or the use of donor oocytes or sperm may be proposed. It all depends on each case. 
What can be identified through chromosomal analysis?A preimplantation genetic diagnosis can help identify approximately 600 genetic disorders and exclude them before transferring the embryo to the prospective mother's body. Specifically, it helps detect:● Abnormal chromosome numbers (e.g., Down syndrome). ● Genetic changes in individual chromosomes, such as deletions (missing a portion of a chromosome), duplications (doubling a portion of a chromosome), inversions (reversing the orientation of a chromosome segment), and translocations (moving a portion of one chromosome to another). ● Mutations in individual genes can cause various genetic disorders.
Chromosomal analysis is capable of detecting such disorders as Down syndrome, Lesch-Nyhan syndrome, Duchenne muscular dystrophy, Turner syndrome, Hunter syndrome, Patau syndrome, Shereshevsky syndrome, Fanconi anemia, torsion dystonia, and many others.
Why analyze embryo chromosomes?● Preimplantation genetic diagnosis confirms the presence or absence of genetic abnormalities in the embryo at an early stage of development in 99% of cases.● Cutting the risks of transmitting genetic disorders - chromosomal analysis helps detect genetic anomalies in embryos that could be inherited from biological parents, boosting the chances of conceiving a healthy offspring.● Creating optimal conditions for a successful pregnancy is especially important for women who have experienced traumatic events such as miscarriages or unsuccessful IVF procedures. Through such analysis, the risk of first-trimester miscarriage can be reduced by almost x2, and the success rate of IVF programs can spike from 10 to 30%.● The frequency of genetic disorders during pregnancy significantly increases after the age of 35. Chromosomal analysis helps select embryos with a normal number and structure of chromosomes, ensuring a successful pregnancy and the birth of a healthy child at 35+ years of age.● For infertile couples without clearly defined reasons for fertility issues, this can be an opportunity for happy parenthood.
On top of all that, this method can reduce the risk of multiple pregnancies by almost two times. Embryonic chromosomal analysis is a vital tool in reproductive medicine. Its utilization aids thousands of couples in overcoming uncertainty and minimizes the risks of pregnancy loss or giving birth to a baby with genetic disorders.