PGD
Gender Selection (PGD) in Pakistan
Preimplantation Genetic Diagnosis (PGD) is a genetic screening process used in assisted reproductive technology (ART) to help increase the chances of a successful pregnancy. This technology screens embryos for chromosomal issues that may increase the risk of miscarriage.
PGD was first developed in 1989 by Dr. Alan Handyside to screen embryos for cystic fibrosis in IVF procedures. Initially, it was also used for sex selection, as male embryos carry a higher risk of certain sex-linked diseases. Over time, PGD has evolved to detect a wide range of genetic issues, including single-gene disorders and chromosomal abnormalities, making it a common procedure to help ensure the health of embryos chosen for implantation.
Process of PGD (Preimplantation Genetic Diagnosis)
Step 1: Initial Assessment and Counselling
Once the couple shows their wish to have a balanced family or their infertility specialist assessed them to be at risk of giving birth to a child with inheritable genetic disorders, they are advised to go for a PGD procedure. Before starting the procedure patients are counseled about their hormonal profile and ovarian reserve and its effect and chances on Conception. Sufficient ovarian reserve allows better chances of conception with PGD procedure. Women with low ovarian reserve produce a limited number of eggs in response to the drugs given for stimulation of ovaries during the PGD cycle. Less number of eggs retrieval might result in the formation of fewer embryos that are suitable for pre-gestation gender selection or genetic diagnosis.
Step 2: Stimulation of the Ovaries
After a complete pre-requisite assessment, ovarian stimulation is started on Day 2 or Day 3 of the Menstrual Cycle. Injections for ovarian stimulation are administering daily at a specific time along with some oral medicines. The process of ovarian stimulation typically goes for 9-12 days, with the aim of maturing the maximum number of follicles ideally above 10 in the count. During the stimulation period monitoring of developing follicles (eggs) is done on alternate days with transvaginal scan and blood test (for Estradiol level checking).
Step 3: Trigger Shot
Once the level of Estradiol Hormone and Number of Follicles reached the desired level, one last shot of Trigger Injection is given at night, approximately 36 hours prior to the transvaginal ovum pickup (TVOPU).
Detailed instructions are provided to the patient regarding transvaginal ovum pickup day.
Step 4: Egg Retrieval / Collection
After 36 hours of the trigger shot, the TVOPU procedure is done for Egg Retrieval in presence of a fully trained team of Consultants, an Anesthetist, an Operation Theater Nurse, staff, and Embryologists. It’s a day case procedure in which a patient is given light anesthesia, and eggs from ovaries are aspirated through an ovum pick needle, guided by transvaginal ultrasound. The egg collection process is carried out in operation theatre. The transvaginal ovum pick-up procedure usually takes 30 minutes to complete. Trained Embryologist (s) are given with aspirated follicles and they will confirm the total number of eggs retrieved.
Any discomfort that you may experience after the TVOPU procedure is normal to mild and will be effectively controlled by the administration of pain-killer injections.
Step 5: Fertilization of Eggs
The next step is the fertilization of eggs in a specialized IVF Lab. Fertilization is achieved by using the advanced techniques of intra-cytoplasmic sperm injection (ICSI). During ICSI, embryologist injects a single sperm into each egg under a high-powered microscope by using a special IVF-grade glass needle. The process of ICSI improves the chances of fertilization, especially, if the semen sample has low sperm count or low motility of sperm cells.
Step 6: Embryo Biopsy & PGD Testing
The day after your egg collection, Embryologists will check how many eggs have been successfully fertilized. Please be advises some of your eggs might not fertilize and 100% fertilization rate is not achieved all the time. On the 2nd day of egg retrieval, embryologists check how many fertilized eggs have started to divide into 2 cell or 4 cells.
On the 3rd day of egg retrieval further cell divisions lead to the formation of 6 cell or 8 cell embryos. Biopsy on the embryos is performed at this stage for removal of 1 or 2 cells from each embryo for identification of gender and any genetic disorder.
The same biopsy sample can be used for the identification of chromosomal abnormalities through PGS.
Step 7: Embryo Transfer
After successful PGD Testing, the patient is informed about the status of Embryos Gender and Detection of any abnormality. With the consent of the couple, Embryos of the desired gender are then transferred to IVF Theater.
The patient is provided with complete instructions regarding medicine usage and precautions.
Step 8: Preserving Extra Embryos
In most cases, extra embryos are produced beyond the ones that will be transferred to the uterus. Couples are provided with the option of freezing extra embryos with the rapid freezing method, to be used in the future. It also eases the path for couples to try again if their first attempt is not successful.
Preservation of embryos prevents the process of ovarian stimulation as was done during PGD. Also, if extra embryos are not of the desired sex this time, still these frozen embryos can be used in near future to further expand your family, since fertility potential declines with every passing day.
Step 9: Pregnancy Test
After fifteen days of successful embryo transfer, a pregnancy test of the patient is carried out. If the test comes out positive, it means implantation has occurred successfully.
Applications of PGD (Preimplantation Genetic Diagnosis)
PGD is not a standalone fertility treatment but is used alongside fertility procedures like IVF to reduce the risk of chromosomal abnormalities, such as Down Syndrome, in children. Here are the key applications of PGD:
1. Choosing a Specific Gender
PGD allows parents to choose the gender of their child for two main reasons:
- Genetic Disease Prevention: Some genetic diseases are sex-linked, meaning children of a specific gender have a lower risk of inheriting them.
- Family Balancing: For family planning, parents may prefer a child of a particular gender. For example, if you already have a son, you may want a daughter for your next child. PGD assists in selecting an embryo of a specific gender for implantation.
2. Aneuploidy Testing
A typical embryo has 23 pairs of chromosomes, totaling 46 chromosomes. Aneuploidy, a chromosomal abnormality, occurs when there is an incorrect number or structure of chromosomes. This condition can lead to disorders like Down Syndrome and Turner Syndrome.
- Risk Factors: Although the exact cause of aneuploidy is unknown, it’s more common among older mothers and parents with a history of chromosomal abnormalities in previous pregnancies.
- Role of PGD: PGD screens embryos for these chromosomal irregularities, helping reduce the risk of such disorders before implantation.
1. Lower Risk of Chromosomal Abnormalities
With PGD testing, you can be confident that the embryo is screened for chromosomal abnormalities that may run in your family. This significantly reduces the likelihood of having a child with genetic disorders.
2. Higher Chances of Successful IVF
Chromosomal defects are a common reason for unsuccessful IVF attempts. By utilizing PGD, you can select the healthiest embryo for implantation, thereby improving the chances of a successful pregnancy and reducing the risk of pregnancy termination.
3. Family Planning and Balancing
For couples with a history of gender-associated diseases, choosing the gender of the child can be crucial. PGD enables parents to select embryos free from sex-related disorders, allowing them to choose the healthiest female or male fetus.
Preimplantation Genetic Diagnosis (PGD) is an excellent option for couples who have experienced multiple pregnancy terminations due to chromosomal abnormalities. Here are the key benefits of PGD for couples planning to conceive through assisted reproductive technology:
Benefits of PGD (Preimplantation Genetic Diagnosis)
What is PGD?
PGD (Pre-Implantation Genetic Diagnosis) is a procedure that assists couples in balancing their families by reducing the risk of passing hereditary genetic disorders to their children. Couples who already have at least one child of a specific gender often wish to have another child of the same or different gender.
What are the Steps in PGD?
Step 1: Initial Assessment and Counseling When a couple expresses the desire for family balancing or is assessed by their infertility specialist as being at risk of having a child with inheritable genetic disorders, they are advised to consider the PGD procedure.
Who Should Consider PGD?
Couples dreaming of a balanced family should consider PGD. This procedure allows parents to select the gender of their baby before embryo transfer and implantation, increasing the likelihood of having the desired gender.
Risks Involved with PGD
Most risks associated with PGD treatment are similar to those involved in intracytoplasmic sperm injection (ICSI) and in-vitro fertilization (IVF). These may include risks related to the procedures themselves, such as complications from egg retrieval and embryo transfer.
Common Considerations of PGD
One of the primary ethical considerations for Preimplantation Genetic Diagnosis (PGD) is embryo disposition. Since the procedure involves creating multiple embryos, some of which may carry chromosomal defects or be of a gender the parents do not desire, this raises significant concerns. Parents face decisions regarding whether to donate, freeze, or discard these embryos. Ultimately, among the multiple embryos created during IVF, couples typically choose the healthiest, leaving others—especially those with chromosomal abnormalities—unwanted and likely destined for disposal.
Advancements in PGD Treatments
Preimplantation Genetic Diagnosis has experienced several advancements that enhance fertility treatment outcomes, reduce miscarriage risks, and promote healthy pregnancies for couples facing infertility. Some of the notable technological advancements include:
1. Comprehensive Chromosomal Screening (CCS)
CCS is a significant advancement in PGD, as it detects chromosomal defects in embryos. An abnormal number of chromosomes can lead to disorders, such as Down Syndrome, making CCS essential for selecting healthy embryos.
2. Single-Cell Biopsy
This technique allows for the testing of individual cells within the embryo to analyze their genetic material. This method provides more accurate results while minimizing the risk of embryo damage.
Additionally, ongoing research is focused on improving PGD accuracy and gene editing methods. For example, CRISPR-Cas9 technology holds promise in eliminating gene defects, thus increasing the success rates of IVF and PGD. This technology enables precise modifications to the embryo’s genetic material by adding, removing, or altering DNA sequences.
Cost of Gender Selection in Pakistan
The cost of gender selection in Pakistan can vary based on the clinic and the specific procedure used, such as IVF with gender selection (PGD – Preimplantation Genetic Diagnosis) or sperm sorting. This cost typically includes the IVF procedure, genetic testing, and other related services. It’s important to consult specific clinics for an exact quote, as pricing can differ based on location, expertise, and the complexity of the case.
Australian Concept Medical Center offers advanced PGD (Preimplantation Genetic Diagnosis) services, a cutting-edge technique used for gender selection and genetic screening. PGD is part of the IVF process, allowing parents to choose the gender of their baby while also screening embryos for genetic disorders before implantation.
Conclusion
Preimplantation Genetic Diagnosis (PGD) is a vital option for ensuring embryo health before implantation into the woman’s uterus. While it may involve additional costs, PGD significantly reduces the risk of failed IVF attempts and increases the likelihood of a healthy pregnancy. Moreover, PGD plays a crucial role in gender selection and family balancing, making it ideal for couples seeking a child of a specific gender for personal or medical reasons.
