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Preimplantation genetic diagnosis (PGD) is a technique used to diagnose the genetic disorder in embryos produced outside the womb. PGD can identify those embryos which are affected, unaffected, or a carrier for the particular disease.
Preimplantation genetic diagnosis (PGD) starts with the process of in vitro fertilization (IVF) in which Oocyte collection and fertilization is done in the laboratory. After 3-5 days, the embryos will divide into multiple cells. Then a couple of cells are taken out with the help of fine glass needle from the embryos to check for any kind genetic abnormality. After PGD analysis, if selected embryos are free from genetic problems, then only it is placed inside the uterus.
The technique was developed as a substitute to diminish the transmission of severe genetic diseases in offspring. It is helpful for those couples who have a high-risk of the genetic disorder. PGD testing is indicated when the patient has:
Family history of genetic disorders
The genetic disorder often runs in the family history from generation to generation. Pre-implantation Genetic Diagnosis (PGD) helps to avoid the genetic disorder transmission to the child. Genetic problems like Cystic fibrosis, Huntington’s disease, muscular dystrophy, Tay-Sachs disease, sickle cell anemia, can be detected with the help of PGD technique. With the help of Pre-implantation Genetic Screening (PGS), unaffected embryos are transferred into the mother’s uterus.
Persistent IVF Failure
After multiple IVF cycles if no pregnancy occurs then there is a risk of the irregular chromosomal disorder. Morphologically fine embryos often appear normal but may be chromosomally anomalous. Pre-implantation Genetic Screening (PGS) screens the normal embryo may be transferred to the uterus to have a healthy and successful pregnancy.
The risk of Chromosome genetic abnormality increases with the maternal age. When a woman is born, her ovaries have millions of eggs. With the age, the quality and number of egg deprived and by the time women reach to menopause all eggs are almost gone. Older women have lower quality eggs so there is a chance to have an abnormal embryo. In advanced maternal age, there are fewer pregnancy rates with more chances of miscarriages. An abnormal embryo is an aneuploid (An extra or missing chromosome) for example Down syndrome (Trisomy 21) has an additional copy of chromosome 21. Such risk occurs when a woman reaches the age of 35 and above.PGS helps to diminish the risk of miscarriage & helps to raise a chance for pregnancy.
Frequent Pregnancy Loss
The recurring fetal Loss is due to the following reasons:
In case of Chromosomal structural abnormalities, there are more miscarriages because of embryo made of abnormal chromosomes. So, in that case, options are to use donor eggs or sperm to replace the abnormality using PGS with IVF.
Recurrent Pregnancy loss can be identified by the potential causes. And once the abnormality is identified, a possible treatment can be used to treat abnormality. Medical rehabilitation is required to treat endocrine, autoimmune, or metabolic diseases whereas the surgical process can be done to correct a uterine malfunction.
Couples with unexplained fetal loss have a propensity to have chromosomally abnormal embryos. Through PGS chromosomally normal embryo can be selected for implantation which also reduces the miscarriage rate and can raise the birth rate.
Revolution in the medical sciences provides a chance to women to revitalize their ovaries by a therapy called ovarian rejuvenation. The therapy offers hope to those patients who have problems like low Oocyte reserve, premature ovarian failure, early menopause problems, and Anti-Mullerian hormone levels.
It is a fact that, a woman is born with millions of Oocyte in her ovaries and as she grows up the egg supply declines in number and in quality as well. It seems quite impossible to develop new eggs in the ovaries naturally. But, according to the recent researches, it is possible to regenerate new eggs with the help of patient’s blood cells. Blood cells have growth factors which help to heal various types of injuries in the body. Growth factors can stimulate the growth of new blood vessels, nerve and connective tissues by the activation of Stem Cells. And stem cells have a power of regeneration.
Ovarian rejuvenation can be done on anytime on women with or without menstruation cycle. The procedure has two steps:
The First step is to isolate the PRP (Platelet-rich plasma), Preparation of PRP begins with the insertion of a needle into the vein in order to get blood in the test tubes. Platelets and White blood cells (WBCs) are separated from the red blood cells (RBCs) and serum by centrifugation process which takes approximately one hour to prepare PRP.
The Second step is Administration of PRP into Ovaries, under an intravenously administered anaesthesia. The isolated PRP (supplied with protein-rich growth factor and stem cell chemoattractants) is injected into the ovaries specifically in the cortical tissue of the patient with the help of transvaginal ultrasound.
Ovarian Rejuvenation has the utmost benefit that it gives a chance to women to become pregnant from her own eggs naturally and also helps in improvement in hormone levels.
After the procedure, it is very important to keep an eye on AMH (anti-Mullerian hormone), FSH, LH and Estradiol levels along with the ovarian function for 1- 3 months. The values will help to know the positive working of ovarian rejuvenation. Usually, the improvement shows up in 1-3 months but in some cases, it takes more than that. So, the monitoring is done up to 6 months. But the treatment is still in research phase. If ovarian rejuvenation treatment shows a promising future, and then it could help many women who have various types of age-related infertility problems.
Innovative techniques are persistently growing for infertility treatment. The evolving industry is giving great expectations to most of the people who want to experience parenthood. It seems exciting to be a mother of more than 1 baby and is often a happy moment for every parent. But in multiple pregnancies, there is a risk of complications like premature birth, congenital abnormalities, and mother will more likely to have health issues like gestational diabetes, anaemia, and high blood pressure. In addition to this, a premature baby needs special care in the Intensive care unit (ICU). So, single embryo transfer (SET) is good option to overcome these problems. Single-embryo transfer (SET) is a process in which one high-quality embryo is placed into the uterus. So, the main focus is to reduce the twin rates in pregnancy by using the single embryo transfer technique.
In the recent years, SET has extensively accepted due to the reason that it reduces the possibility of twins and triplets and also it is safe for both baby and mother. According to the American Society of Reproduction Medicine, single embryo transfer should be considered for patients with favourable prospects usually women who are under the age of 35 or younger with good quality eggs.
Single Embryo transfer (SET) is done when the embryo is at the blastocyst stage. And it is the stage when the best quality embryos can be identified more accurately. A blastocyst stage transfer is a more viable embryo for transfer which reduces the multiple pregnancies. Nowadays, the embryo screening technologies are highly developed, through which embryologist are able to get best single embryo with the goal of achieving a good singleton pregnancy and which reduces the possibilities of multiple gestation and miscarriages.
Through, cryopreservation technology embryos are preserved in frozen condition with no risk even after they have been cultured in the lab to the blastocyst stage. With the help of advanced tools, embryologists can provide the appropriate environment for embryos to grow, as well as methods to recognize that embryo which is likely to develop a baby. This contributes to the probability of success on the first embryo transfer as well as successive transfers.
Due to the advancement of the technology, the majority of patients are able to conceive through single embryo transfer. Success rates of Single embryo transfer (SET) have increased considerably over the past 5 years, making it nearly as likely to achieve a successful pregnancy embryo as with two or more embryos.
A very common question being asked after an IVF failure, in spite of transferring good quality embryos. In fact a very frustrating moment for the infertility specialist also.
The couple and the treating specialist usually develop high expectations after seeing beautiful embryos on the monitor. But reality is an implantation rate of 25-40%.
Another tendency is to blame the uterus as the cause of failure as embryos seemed very good at the time of transfer. But this is not true.
In 2/3 of the implantation failures the uterine receptivity is the major causes and in approximately 1/3 the embryo quality, as all good looking embryos are not genetically normal.
Implantation failure doesn’t always mean an uterus with some inherent defect or permanent inability to implant and grow a baby. As many of these patients may conceive with donor oocytes. The major cause of implantation failure in self cycle is hormonal effect on the endometrim due to stimulation process used on the ovaries. They alter the intrauterine environment with which the embryos interact.
Now few solutions to these problems which can work to some extent. Certain modifications in the stimultation protocols and freezing all resulting embryos and transfer after some time have promising results.