Genetic Testing Abu Dhabi
Genetic testing is now integral to modern medicine, providing deep insights into our genetic code and enabling effective management and prevention of a range of genetic disorders.
Among the various applications of genetic testing, its role in in vitro fertilisation (IVF) is particularly significant, offering advanced techniques for preventing genetic disorders, in future generations, reducing miscarriages, shortening time to live birth and enhancing effectiveness of IVF treatment and family planning / gender selection if needed
What is Genetic Testing?
Genetic testing involves analysing an individual’s DNA to detect changes or mutations that may lead to genetic disorders. These tests can be conducted at different life stages, such as preconception, prenatal, newborn, childhood, and adulthood.
The results provide critical information to help manage health, make informed treatment decisions, and understand the risk of passing genetic conditions to offspring.
Types of Genetic Testing
1-Diagnostic Testing: Employed to confirm or exclude a particular genetic or chromosomal condition in individuals showing symptoms.
2- Predictive and Pre-symptomatic Testing: Assists in identifying the likelihood of developing a genetic disorder prior to the onset of symptoms.
3- Carrier Testing: Determines if a person carries a gene for a recessive genetic disorder.
4- Prenatal Testing: Detects genetic abnormalities in a fetus during pregnancy.
5- Newborn Screening: Tests newborns for certain genetic disorders that can be treated early in life.
6- Pre-implantation Genetic Testing (PGT): Conducted on embryos during IVF to ensure only normal embryos are implanted.
Genetic Testing in Fertility Treatments
Pre-implantation Genetic Testing (PGT)
Pre-implantation Genetic Testing (PGT) is an advanced technique used in conjunction with IVF to screen embryos for genetic abnormalities before implantation.
This selection process ensures only embryos without genetic issues are chosen for transfer, enhancing pregnancy success and reducing offspring’s genetic disorder risks. PGT includes PGT-A, PGT-M, and PGT-SR.
Pre-implantation Genetic Testing for Aneuploidy (PGT-A)
What is PGT-A?
PGT-A, previously PGS, identifies aneuploidy (abnormal chromosome numbers) in embryos, linked to implantation issues, miscarriages, and genetic disorders like Down syndrome.
How Does PGT-A Work?
During IVF, eggs are fertilised with sperm to create embryos. A few cells are biopsied from each embryo on the fifth or sixth day of embryo development.
These cells are then analysed for chromosomal abnormalities. Only embryos with the correct number of chromosomes (euploid embryos) are selected for transfer.
Potential Benefits of PGT-A
Increased Success Rates: especially in women of advanced maternal age and / or recurrent IVF implantation failure, PGT-A improves the chances of a successful pregnancy by ensuring only healthy embryos are transferred and reduces time to live birth during fertility treatment, i.e number of attempts needed to achieve a successful pregnancy.
Reduced Risk of Miscarriage: Choosing embryos with the right chromosome count markedly reduces the chance of miscarriage caused by chromosomal abnormalities.
Enhanced Family Planning and gender selection authorities: Couples can make more informed decisions about their reproductive options and the likelihood of a successful pregnancy.
Some authorities advocate using ir in other indications: as well such as severe male factors, advanced paternal age, etc
Pre-implantation Genetic Testing for Monogenic Disorders (PGT-M)
What is PGT-M?
PGT-M, formerly called Pre-implantation Genetic Diagnosis (PGD), identifies precise single-gene (monogenic) disorders within embryos.
This type of testing is crucial for couples at risk of passing on genetic conditions such as cystic fibrosis, Huntington’s disease, or sickle cell anaemia.
Similar to PGT-A, embryos are created through IVF and a few cells are biopsied on the fifth or sixth day of development.
These cells are subsequently examined for targeted genetic mutations responsible for monogenic disorders. Only embryos free from the identified mutations are selected for transfer.
Prevention of Genetic Disorders: PGT-M helps prevent the transmission of severe genetic conditions to offspring.
Informed Decision-Making and family health: Couples can make well-informed reproductive choices based on the genetic status of their embryos.
Pre-implantation Genetic Testing for Structural Rearrangements (PGT-SR)
What is PGT-SR?
PGT-SR is designed to detect structural rearrangements in chromosomes, such as translocations, inversions, or deletions. These rearrangements can in some cases lead to infertility, recurrent miscarriages, or genetic disorders in offspring.
As with PGT-A and PGT-M, embryos created through IVF undergo a biopsy on the fifth or sixth day. The biopsied cells are analysed for chromosomal structural abnormalities. Only embryos with structurally normal chromosomes are chosen for transfer.
Improved Pregnancy Outcomes: By identifying and selecting embryos with typical chromosomal structures, PGT-SR enhances the chances of a successful pregnancy.
Reduced Risk of Miscarriage: Structural chromosomal abnormalities are a common cause of miscarriage, and PGT-SR helps mitigate this risk.
Healthy Offspring: Ensures the embryos selected for transfer have typical chromosomal structures, reducing the risk of genetic disorders.
Gender Selection and Family Balancing
In addition to identifying genetic abnormalities, PGT can also be used for gender selection, which is often pursued for family balancing purposes.
Family Balancing with IVF
Couples may choose to balance their family by selecting the gender of their next child. PGT-A can identify the sex chromosomes of the embryos, allowing parents to select embryos of a specific gender for transfer.
This approach is especially advantageous for families seeking to balance genders by choosing a child of the opposite gender when they already have several children of one gender.
Family Balancing Without IVF
For those seeking family balance without undergoing IVF, options are more limited but still available. Methods like sperm sorting can enhance the chances of conceiving a child of a preferred gender.
However, these methods are less accurate than PGT-A, which is performed during IVF.
Genetic testing, especially Pre-implantation Genetic Testing (PGT), has revolutionised the field of reproductive medicine.
PGT-A, PGT-M, and PGT-SR provide crucial information about the genetic health of embryos, markedly enhancing the likelihood of a successful pregnancy and the delivery of healthy babies.
Furthermore, these tests facilitate gender selection and family balancing, allowing couples to make informed decisions about their reproductive futures.
By understanding and utilising these advanced genetic tests, couples can reduce the risk of genetic disorders, achieve family-balancing goals, and bring healthy children into the world.
Consult Dr Salem El Shawarby for genetic testing Abu Dhabi
For genetic testing in Abu Dhabi, consult Dr Salem El Shawarby, a renowned Reproductive Medicine and Infertility Consultant, With almost 30 years of experience, Dr Salem El Shawarby is a highly skilled expert in reproductive medicine and has helped many couples to achieve their dream of parenthood.
