Genetics

Genetics

Why is genetic testing recommended to intended parents?

Nowadays, the success of some infertility treatments greatly depends on the use of preimplantation embryo genetic testing. There are a number of indications for such tests. Genetic embryo testing is prescribed for intended parents of advanced maternal age, with previous recurrent IVF failures, male infertility, or recurrent pregnancy loss (RPL). Also, if the medical history of your family includes any single-gene disorders or a genetic disease that is linked to a specific sex, and you are looking to expand your family, you should consider IVF and testing your embryos before the transfer to determine their genetic makeup.
Those patients who do not have direct indications for genetic embryo testing that are mentioned above may still choose to use it to help conceive a genetically healthy baby. Genetic testing can help parents-to-be achieve pregnancy via IVF treatment: collecting the oocytes, fertilizing them in vitro and selecting the most healthy-looking embryos for transfer. Genetic testing can also greatly help in the investigation of the root causes of infertility that the couple has been experiencing. The main goal of genetic testing done on embryos is to make sure that only the embryos with the highest implantation rate are used during IVF treatment.

How do I know which genetic screening method is best for me?

Intended parents usually choose PGS if they want to test their frozen embryos for chromosomal abnormalities. Patients who are known carriers of some genetic mutation tend to opt for PGD that can detect this specific genetic disorder in their embryos. Certainly, the possibility of assurance that your child conceived via IVF will be free from the same genetic disorder that we carry cannot be underestimated.
The above-mentioned options of genetic testing provide an opportunity not only to help you conceive a healthy baby but also to select the baby's sex. Family planning can be important for some people and here, again, PGS can be of help here.

What is the process for genetic testing?

  • The oocytes that are collected during an IVF cycle are fertilized using the partner or donor's sperm.

  • Once an embryo reaches day 5 of its development (i. e. the blastocyst stage), the embryologist can carry out the embryo biopsy. During this procedure, approximately 5-10 cells are biopsied from an embryo.

  • The embryologist can perform the biopsy on a few embryos at once. The procedure is entirely safe for them. The removed cells are then sent for testing. This can be done using different techniques: fluorescent in situ hybridization (FISH), microarray, and single-nucleotide polymorphism (SNP).

  • It usually takes 5-10 days for test results to arrive. On the basis of the results, the embryologist selects the most genetically viable embryo(s) to be transferred.

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FAQ. Preimplantation Genetic Testing

  • How safe is Preimplantation Genetic Testing?

    There is no evidence that children born after preimplantation genetic testing suffer from any health or developmental problems. Experts say that embryo biopsy does not affect the health of babies conceived from tested embryos. Hence, such testing is a safe option.

  • Can PGS be used for selecting the baby’s sex?

    Preimplantation genetic screening is one of the techniques used to detect the embryo’s sex because PGS also analyses the Y and X chromosomes. This can be done with 100% accuracy. It can be of benefit to couples who want to balance out their family and to use modern technologies to choose the embryos of a specific sex for transfer. This way they will ensure they will conceive a child of the desired sex. Their motivation can be non-medical, that is family balancing. Another reason to choose the baby’s sex are sex-linked genetic diseases. For example, muscular dystrophy which is a gender-specific disease that only affects boys. In this case, sex selection can be recommended by the doctor as this is a clear medical indication to opt for a specific sex.

  • What is the process of PGD?

    PGD includes removing a few cells that will form a placenta from a day 5 embryo. Such procedure, called trophectoderm biopsy, is not harmful to the embryo. The embryologists test the cells to detect if they contain any genetic abnormalities. The embryos that do not possess the specific genetic condition will be selected as suitable for transferring into the patient's uterus.

  • How many days should I wait to get the results of PGD/PGS?/h4>

    It usually takes 5-10 days for test results to arrive. The embryo(s) with the best genetic makeup are selected for embryo transfer.

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