Journal of Human Reproductive Sciences

: 2018  |  Volume : 11  |  Issue : 4  |  Page : 303--305

From the editors desk

Madhuri Patil 
 Dr. Patil's Fertility and Endoscopy Clinic, Bengaluru, Karnataka, India

Correspondence Address:
Dr. Madhuri Patil
Dr. Patil's Fertility and Endoscopy Clinic, Bengaluru, Karnataka

How to cite this article:
Patil M. From the editors desk.J Hum Reprod Sci 2018;11:303-305

How to cite this URL:
Patil M. From the editors desk. J Hum Reprod Sci [serial online] 2018 [cited 2022 Dec 5 ];11:303-305
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The review article on preimplantation genetic testing (PGT) by Firuza Parikh has very well described the evolution and its current use in assisted reproductive technique (ART) practice. PGT with the use of comprehensive chromosome screening using different genotyping methodologies (aCGH, SNP microarray, quantitative polymerase chain reaction, and next-generation sequencing) helps in preventing the transmission of monogenic inherited disorders in families afflicted with diseases to the future offspring. The term preimplantation genetic diagnosis has been replaced by PGT for monogenic (single gene) disorders for known heritable genetic mutation; PGT for structural rearrangements to distinguish normal noncarrier embryos from balanced carriers in couples with a balanced translocation, or deletion/duplication; and PGT for aneuploidy (PGT-A) to identify embryos without aneuploidy. The role of PGT-A in increasing live birth rate is still controversial, but it has definitely reduced the risk of miscarriage. Mosaicism is the biggest barrier in utilizing PGT-A as it can result in false-positive diagnosis, with many clinically competent embryos being discarded. Including PGT-A regularly for all patients still requires further work due to its high cost, invasive nature, and insufficient evidence in increasing the live birth rate. We have another article on the psychological aspects of donor insemination. In a male-dominated society like India, it is very difficult for a male to accept that the problem lies in him. His manhood could be hurt as the child was conceived through artificial insemination by an unknown male donor and the overall quality of relationship between the couple may be affected. Moreover, as the donor is unknown, there is also concern about the genetic/medical history of the donor. Thus, all fathers of therapeutic donor insemination (TDI) children should also receive psychological support. The review article in this issue covers all aspects of TDI. There is another review article on infertility-specific distress in patients undergoing fertility treatments. All of us are aware that nearly one-half of all couples stop treatment, and the main reasons to discontinue treatment are emotional distress of infertility treatment in about 38% or poor prognosis in about 18% of the infertile population. The emotional distress is due to relational strain in between the couple due to infertility, fear and negative attitudes to treatment and psychological vulnerability, and ability to withstand the demands of treatment. We are also aware that unsuccessful treatment provokes grief and mourning and successful treatment decreases the emotional distress. The review article has described all the problems related to distress in a couple undergoing infertility treatment and also describes the methods to cope with distress. Psychological counseling should be offered to all infertile couples independent of their individual diagnosis or the stage of medical treatment and independent of treatment. This caring for the emotional needs of the patient demands continuity and should not be treated as a single event. Thus, infertility counseling should be mandatory and should be an integral component of infertility treatment for all patients right from the start of treatment.

Abnormalities in the genes can affect gonadal development (testicular dysgenesis), gonadotropin action (Kallmann syndrome), gametogenesis (Y microdeletion), organ malformations (cystic fibrosis [congenital bilateral absence of the vas deferens and cystic fibrosis transmembrane conductance]), and sexual behavior. It has been observed that 5%–10% of cases of azoospermia and severe oligospermia are related to microdeletions at the Yq11 region. These genetic abnormalities can be transmitted to all male offspring and therefore should be tested for before treatment. This will help us in establishing the diagnosis and possible genetic origin of the problem and providing counseling information on natural history, variation, expression, and transmission to the next generation. The original article on the examination of Y-chromosomal microdeletions and partial microdeletions in idiopathic infertility describes the value of testing for Y chromosome microdeletion in patients of azoospermia and severe male factor subfertility and concludes that it not only provides diagnostic information, but also has prognostic value in predicting testicular sperm retrieval in azoospermic men.

Apart from male subfertility, genetics also plays an important role in the pregnancy outcome. Chromosomal translocations can result in recurrent pregnancy loss in the first trimester as 1 in 500 people carry a balanced translocation. This makes it mandatory for us to carry out peripheral blood karyotyping of both partners. If a balanced translocation is identified, it is useful to counsel the patient by a clinical geneticist for the risk of transmission and other effects on the forthcoming progeny. It is important to karyotype miscarriage products to see if they are the result of unbalanced translocations. Finding a cytogenetic abnormality in an aborted fetus or in any of the parents may decrease the further investigations that the couples have to undergo, thus will be both cost and time saving. These couples can then be counseled for prenatal testing or undergoing in vitro fertilization (IVF) and preimplantation genetic testing and transfer of normal embryos for an optimal outcome. The latter option is better as it will prevent the stress of pregnancy loss. The case series in this issue by Priya et al. also describes the advantage of genetic testing in the embryo or fetus in women with a history of recurrent pregnancy loss.

Ayman Shehata Dawood has looked at the circulating levels of Vitamin D3 and leptin in lean infertile women with polycystic ovarian syndrome (PCOS). Unlike the previous publications which have shown a positive correlation between serum leptin, body mass index (BMI), and insulin levels, this study has shown significantly high leptin levels in lean PCOS. They also found low Vitamin D3 levels in lean PCOS as compared to controls. We know that Vitamin D3 levels are low not only in PCOS women, but also in non-PCOS women. Vitamin D (VD) deficiency may be associated with metabolic and endocrine disorders in PCOS. PCOS patients with VD deficiency are more likely to have dysglycemia compared to those without VD deficiency. There is limited-to-no evidence that VD deficiency is causally linked to the development of PCOS. It is also seen that, in PCOS women, low 25-OH-VD levels are associated with obesity and insulin resistance (IR) but not with PCOS per se. The present study published has not compared lean and obese PCOS versus controls, so we cannot attach a great significance to this study which states that high leptin levels and VD deficiency are responsible for the pathogenesis of PCOS in lean women. When we look at the anti-Mullerian hormone (AMH) levels in women with PCOS, a significant negative correlation exists between BMI and serum AMH. There also exists a significant positive correlation between AMH levels and IR in PCOS women. Hence, do insulin sensitizers have any role in decreasing the AMH levels is a question, which was looked into by Neeti Chhabra and Sonia Malik. This study concluded that metformin therapy reduces AMH levels, converts irregular menstrual cycles to regular, and also reduces clinical hyperandrogenism. The minimum duration of therapy suggested was 12 weeks in contrast to 8 weeks by Fatemeh Foroozanfard et al. in their publication in 2017. I think large multicentric randomized trials, which include more individuals, will through light on the use of insulin sensitizers routinely to optimize the outcome of infertility treatment in PCOS women with very high AMH values.

Adenomyosis has detrimental effects on the outcome of assisted reproduction cycles (ART), and this is related to chronic inflammation, overexpression of endometrial cP450, and dysperistalsis. It can also have an effect on implantation by resulting in the alteration of adhesion molecules, cell proliferation, apoptosis, and free radical metabolism. Though the effect of adenomyosis on fertility is controversial, many studies have shown that the effect is more if the junctional zone is involved. Nalini Mahajan et al. looked further into the mechanism of implantation in women with adenomyosis by analyzing whether the window of implantation is significantly displaced. This was done in a case–controlled study by performing endometrial receptivity assay (ERA). This study concluded that the window of implantation was displaced in women with adenomyosis, thus resulting in recurrent implantation failure. They had an increase in pregnancy rates after performing personalized embryo transfer and therefore suggest that women with adenomyosis should undergo ERA before embryo transfer to avoid the wastage of good embryos.

Social egg freezing for fertility preservation has increased over the last decade. It is a good option for women with a family history of early menopause and those pursuing education and career goals. It is also common in women who are in their thirties and do not have a life partner yet or are not ready financially to have a child. We are aware that there is loss of fertility and increased risk of miscarriage with age, and those women who are delaying childbearing and do not freeze eggs may lose their opportunity to have a biological child. Karissa et al. looked at the trend in the United States of America on knowledge about age-related decline in fertility and acceptance of oocyte cryopreservation as an option for fertility preservation. In their survey, they found that about 50% are aware of age-related decline of fertility, but even these women did not understand the importance of oocyte freezing. Empowering women about the decline in fertility and safeguarding their reproductive potential by social oocyte freezing are essential. Social egg freezing may involve ethical issues like what should be done with oocytes that are not used for pregnancy. Moreover, the efficacy of the techniques may be limited, particularly with cryopreservation of oocytes from women aged 35 or over who may have limited oocytes cryopreserved, which may not have 100% fertilization and implantation rates. Hence, apart from oocyte freezing, women also need to be empowered about the chance of pregnancy with oocyte cryopreservation and given an option of cortical ovarian tissue freezing. Cortical ovarian tissue freezing has the advantage of avoiding repeated stimulation, thus decreasing the cost, can result in natural conception after transplantation, and also has benefits for future endocrine function. For those who have no fertility preservation option and desire pregnancy, oocyte donation is the only option. Does oocyte donation incur any obstetric or neonatal risk as compared to self-oocytes was looked at by Vikas Yadav et al. They found oocyte donation to be an independent risk factor for hypertensive disorder during pregnancy as compared to controls. This is in concurrence with most publications which have reported a higher incidence of pregnancy-induced hypertension, premature delivery, and low birth weight in singleton pregnancies, with the risk increasing multiple pregnancies. To avoid the additional increase in risk from multiplicity, single-embryo transfer should be the choice of option in oocyte donation cycles.

Oocyte retrieval is performed under general anesthesia using intravenous fentanyl and propofol or under intravenous sedation along with assisted mask ventilation with oxygen. There is an original article in this issue which looked at the role and efficacy of paracervical block (PCB) on the requirement of propofol across different BMI groups. They concluded that the PCB reduced the consumption of propofol significantly only in those women who had a normal BMI. There was no benefit observed in underweight and overweight women, so PCB could be avoided in this group. Most studies have compared propofol with PCB and have found no differences in fertilization, pregnancy, or live birth rates between the two groups. As there is evidence that use of increasing concentrations of propofol has no measurable effect on the oocyte quality, fertilization, cleavage, embryo development, and live birth rate, does it make sense in administering PCB for oocyte retrieval with propofol, which is going to increase the time of the procedure?

Stress is an integral part of subfertility, but, at present, there is no strong epidemiological data on the prevalence and predictors of infertility-related stress in culture-specific scenario. Stress itself can reduce the successful outcome of any infertility treatment; therefore, development of prediction models may help in identifying couples who require psychological counseling. A study conducted at a public hospital in Morocco looked at socioeconomic, cultural, and epidemiological factors which can result in stress related to infertility. While most studies have shown that women are usually more emotionally affected compared to their male partners, this study also endorses the same. Giving psychosocial care, infertility counseling, and psychotherapy should be an integral part of infertility treatment.

Women infected with rubella virus during prepregnancy or early pregnancy are at a risk for miscarriage or stillbirth and severe birth defects with devastating, lifelong consequences. Therefore, all women should check that they are protected from rubella before they get pregnant. If their titers are low, it is best to be vaccinated and plan for a pregnancy only after 4 weeks after receiving Measles, Mumps, and Rubella vaccine. The study here reports a risk of one in four women to have developed rubella during pregnancy and therefore advocates screening and vaccination of all women planning pregnancy.