The Preparation Phase
In the first instance, our medical specialist will have a consultation with you in deciding the best way forward for your IVF/ PGD treatment. You may be given birth control pills one cycle before your treatment. This is to ensure that there is less likely hood of hyper stimulation syndrome and ovarian cysts.
Blood Tests and Ultrasound
Following the preparation phase and two days into your menstrual cycle, our specialist will perform blood tests, followed by an ultrasound scan. This is to ensure that the ovaries is in the perfect state to undergo the treatment.
During this phase you will be given fertility stimulation medication in form of an injection, to be taken once or twice daily, over a period of 10 days following your blood tests and scans. Our fertility specialist will give you full instructions on how to administer these in the comfort of your home.
The purpose of the injections is to stimulate the ovaries into producing a number of eggs. A series of ultrasound scans are performed to monitor the development of eggs.
After the 10 days have passed a final shot of different hormone is administered to finalise the stimulation.
This is a simple procedure which takes around 30-40 minutes. The procedure is carried out under a light sedative. The eggs are retrieved by the use of ultrasound scanning and a probe in form of a very thin glass tube.
The eggs will then be examined by our embryologist in the laboratory to make sure that they are healthy.
This process takes place within 24 hours of egg collection. A sample of male partner's semen is taken and the healthiest sperm is placed with the eggs in an incubator in a laboratory for fertilisation. The fertilised eggs are known as embryos.
PGD Gender Selection Testing to Choose the Baby's Gender
There are many genetic diseases that can be transferred from parents to children including Tay-Sachs, hemophilia, Sickle Cell Anemia, Cystic Fibrosis, Down's syndrome and many others. Preimplantation genetic diagnosis allows the physician and embryologist to screen the embryos for specific genetic disorders if the specific mutation is known. It is also used to screen embryos for chromosomal disorders such as Downs Syndrome. Evaluation of the chromosomal content can also be performed to increase the quality of the embryos selected for embryo transfer in cases involving recurrent pregnancy wastage, repeated IVF failure, and advanced maternal age.
PGD is a micromanipulation procedure performed in conjunction with an in vitro fertilization cycle. In PGD, a small biopsy of the embryo is taken and one or two cells of the 6+ cell embryo are removed and examined using fluorescent in situ hybridization (FISH) used to count chromosomal number and/or the polymerase chain reaction (PCR) which is used to amplify the mutation point around a disease-causing gene.
FISH is used to identify the sex of the embryo, to identify balanced translocations, and to rule out aneuploidies. This is the key component for gender selection. If a couple has opted to choose the gender of their baby then the PGD procedure can also determine whether the embryo is male or female.
It works by attaching a probe specific for a certain chromosome allowing us to count the number of these chromosomes. (SEE FIGURE 1) An aneuploidy occurs when there are an incorrect number of chromosomes in the cells. Aneuploidy is a common cause of miscarriage in older women. FISH aneuploidy evaluation increases the effectiveness of the process for selecting the normal embryos for transfer. Usually, 8 or 9 different chromosomal probes are used so the embryo might still have an abnormal makeup involving chromosomes that are not evaluated.
Research is advancing to allow for testing of all 23 pairs chromosomes. Some genetic diseases such as hemophilia can only be transferred to a child of a particular sex. In these cases, FISH allows the embryologist to separate the embryos by sex and only the unaffected sex will be transferred to the uterus. PCR is used to identify single gene defects such as cystic fibrosis, Tay Sachs Disease, Spinal Muscular Atrophy, Muscular Dystrophy, etc. In the PCR process, thousands of copies of the suspected gene are made and the DNA base pairs of the gene are examined for the presence of the abnormality. (SEE FIGURE 2) PCR enables the creation of enough genetic material to make the gene examination possible. Samples of the parent's genetic material are used to make the DNA probe. Since there can be hundreds of mutations within the same gene, the parent's mutation has to be characterized before the PGD procedure.
Biopsy of the embryo does not appear to cause damage. The effectiveness of the process depends on the specific use. Every month more diseases are characterized for their genetic abnormality and the quality of our testing procedures improves. This area will continue to evolve rapidly.
We are engaged in the business of testing embryos prior to transfer for gender sleection as wel as numerical and structural chromosome abnormalities, single gene defects, and/or other genetic disorders.
The nucleus of a biopsied cell from the embryo that has been 'stained' with fluorescent probes for the chromosomes 13/21 (red), 18 (blue), X (green), and Y (yellow). This cell has the correct number of these chromosomes
This gel shows the amplified gene products for the gene causing Tay Sachs. The pattern and size of the amplification products allow the discrimination of embryos as either being affected by the disease, carriers for the disease, or completely normal.
It usually takes 3-4 days for the embryos to reach a sufficient stage of development to identify the gender of each embryo. This is done by our embryologist by using the PGD method to ensure that these are free from any genetic illnesses. The embryos of the couple's desired gender are then transferred to the uterus of the female patient.
This procedure is relatively quick and painless and is carried out by the use of a very fine catheter. Once this transfer has taken place you will be advised to rest for around 2 hours before joining your partner.
You will have to wait for two weeks after the transfer of embryos for a pregnancy test. During this crucial period, you have to make sure that you remain stress free and do not become over anxious. You also have to avoid any heavy lifting and refrain from sexual intercourse. It is advisable to drink plenty of fluids but avoid coffee and strong tea.
If the pregnancy test is positive then you will follow your normal antenatal care provided by your own local hospital.
However if the test is negative then we will recommended the best course of action. Although this will be a huge disappointment, you must bear in mind the fact that providing you are healthy then there is every chance to achieve your dream in another attempt. Please note that the cost of any repeat treatment is considerably lower.