Pre-implantation Genetic Diagnosis (PGD) or Pre-implantation Genetic Screening (PGS) is the process of an embryo or infertilised egg's genetic profiling. It is conducted before implanting it in the womb of the female partner. PGD is often considered to be similar to prenatal diagnosis. In IVF, this procedure is used to screen and diagnose the unbalance in the inheritance of chromosomal abnormalities. Using this method, the specialists can select only the embryos that have no genetic disorder so that there is an increased chance of a healthier child. It can also be used to identify underlying cancer possibility.
Couples usually consider the use of this diagnostic measure for some of the following reasons:
Percutaneous Epididymal Sperm Aspiration (PESA) is a simple process used to obtain a man's sperm for Intra Cytoplasmic Sperm Injection (ICSI). It is usually conducted on men who face a block of the vas deferens. This block can occur due to vasectomy in the past or some other unknown obstruction. For this procedure, the aspiration usually needs to be made on either sides of the scrotum. But sometimes, patients prefer the aspiration on a single side, so that scarring can be minimized.
PESA is conducted under the influence of a local anaesthetic. Once numb, a needle is injected in order to aspirate the seminal fluids. An andrologist then tests the fluid for motile sperms. This procedure will be conducted multiple times if necessary, until a motile sperm is found. PESA is mostly conducted before the female partner's oocyte & embryo donation, because it doesn't make sense to extract the woman's eggs, if there is no moving sperm found.
Testicular Sperm Aspiration (TESA) is procedure that helps diagnose a condition called azoospermia (in which there is no sperm in a man's seminal fluid). It can also be used to recover sperms with other problems or obstructions during ejaculation, if all other methods and procedures fail to do so. The sperm recovered using this method are usually less motile than the ones obtained during ejaculation. If the sperm aspiration is successful, it may either be used immediately or frozen for future use. The ICSI method is then used to fertilise the eggs extracted from the female partner.
Testicular sperm aspiration is conducted under the influence of a local anesthetic. A fine needle is injected into testicles, and a small amount of seminal fluid is extracted from the seminiferous tubules. It is then for immediate or later fertilisation.
Endometrial Receptivity Array (ERA) is also a diagnostic measure like the PGD/PGS. But this method diagnoses the state that the endometrial receptivity is in. In this method, the specialists analyse 238 genes, which are crossbred with the RNA (ribonucleic acid) obtained form a sample endometrial tissue. This analysis helps classify the genes as 'receptive' or 'non-receptive'. This test, however, does not prove whether the patient is fertile or non-fertile, it is only about the endometrial receptivity.
For this analysis, an endometrial biopsy is conducted on the female partner either during her natural menstrual cycle or the replacement cycle of hormones. Post the biopsy, it is initiated into an endometrial receptivity array cryotube containing a fluid for tissue preservation.
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