Preimplantation Genetic Diagnosis: Genetic profiling of embryos

Conservative reproductive techniques or natural birthing often come with the propensity of unknown gender information, and conditioning of the child being birthed. This can cause distress among couples, who either do not want any genetic anomalies to be passed on to their children or want to birth a specific gender.

For couples wanting to raise genetically linked healthy babies, assisted reproductive techniques such as Preimplantation Genetic Diagnosis have paved way for better procreation. PGD allows diagnosis of embryos and evaluates them for any possibility of genetic anomalies or chromosomal disorders.

When is PGD performed?

PGD is done prior to IVF, where embryos are screened for abnormalities, and then the healthy embryos are implanted into the patient’s uterus. The process is also known as ‘embryo biopsy’.

When is PGD ideally preferred?

It is recommended by medical experts to opt for PGD before they undergo implantation through IVF. IVF PGD helps increase the chances of a successful pregnancy, as it identifies poor-quality embryos and draws them. It significantly reduces the chances of miscarriage or multiple pregnancies and stimulates birthing children without genetic inadequacies. It is ideally preferred by:

• Couples with a family history of illness or genetic predisposition to certain illnesses

• Women with a history of unexplained miscarriage

• Older women (more than 39-year-old)

• Experts in detecting abnormalities in chromosomes, or for gender selection

What can medical experts identify through the process of PGD?

• Presence of any chromosomal translocations (chromosomal rearrangements)

• Single-gene disorders, the prime reason for genetic diseases

• Revealing the sex of the embryo before it is placed into the uterus (gives couples an option of family planning, bringing gender diversity in their children)

What is the process of PGD?

• The process begins when ovaries are artificially stimulated using hormones to produce several eggs, increasing the chances of a successful pregnancy

• Eggs are retrieved through a microscopic needle (transvaginal) in a laboratory. The retrieved eggs are then fertilized by male sperm through a process called ICSI

• A biopsy is then taken from each embryo, where the healthy ones are sieved before proceeding for an embryo transfer

• The embryo is normally transferred to the uterus at any one time to avoid the possibility of multiple births

• If additional chromosomally normal (healthy) embryos are available, they can be cryopreserved (frozen/perished) if a future embryo transfer is necessitated

• A positive pregnancy is then anticipated, which means that an embryo has implanted

PGD IVF is succor to childless/infertile couples. The procedure can help mitigate any genetic or chromosomal abnormalities in children, also giving their parents the liberty to ‘choose’ children they want to raise.

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