Human Reproductive Sciences

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From the editors desk Madhuri Patil Journal of Human Reproductive Sciences 2018 11(4):303-305

Preimplantation genetic testing: Its evolution, where are we today? Firuza Rajesh Parikh, Arundhati Sitaram Athalye, Nandkishor Jagannath Naik, Dattatray Jayaram Naik, Rupesh Ramesh Sanap, Prochi Fali Madon Journal of Human Reproductive Sciences 2018 11(4):306-314 Preimplantation genetic testing (PGT) is an early form of prenatal genetic diagnosis where abnormal embryos are identified, thereby allowing transfer of genetically normal embryos. This technology has become an integral part of Assisted Reproductive Technology (ART) procedures. Initial experiments with animals as early as 1890 and those in the mid and later part of the last century paved the forward path of ART and PGT. This review article covers the evolution of PGT and is a pointer toward current and fast-evolving technology, allowing scientists and doctors to better comprehend human reproduction, and ensure healthy pregnancy outcomes.

Psychosocial aspects of therapeutic donor insemination Ansha Patel, P. S. V. N. Sharma, Pratap Kumar Journal of Human Reproductive Sciences 2018 11(4):315-319 The experience of delays in conception or possibility of remaining childless has the potential to create considerable psychological discomfort. In couples with severe male factor infertility, therapeutic intrauterine insemination using donor sperms (TDI) is offered as a treatment, second to in vitro fertilization using donor sperms. TDI is lucrative, less invasive, and a hopeful treatment. However, there are intricacies associated with it. Its immediate outcomes involve limited success rates, nonresponse, and chances of implantation failures, miscarriages, and multifetal pregnancies. Due to this, couples experience distress when they are advised to undergo three to six cycles of TDI in order to meet the expectations of having a baby. TDI has long-term issues on the triad comprising the “recipients,” the “donors,” and the “the children born out of TDI.” Nevertheless, managing psychosocial needs for couples undergoing TDI and other treatments in Indian clinics are grey areas of the conventional treatment pathway. The present review expands on the psychological issues and needs in couples opting for TDI.

"In cycles of dreams, despair, and desperation:" Research perspectives on infertility specific distress in patients undergoing fertility treatments Ansha Patel, P. S. V. N. Sharma, Pratap Kumar Journal of Human Reproductive Sciences 2018 11(4):320-328 “Emotional distress in infertility” is a broad expression that loosely denotes anxiety, depression, grief, crisis, depleting psychological well-being, and all forms of affective and interpersonal disturbances faced by individuals with infertility. The distress is usually associated with involuntary childlessness as it is an unwelcoming event. The developmental crisis associated with childlessness poses a threat to one's sense of self at all levels (individual, family and social). Distress may begin before or during treatments as a person experiences the loss of control over attaining parenthood, anxiety or dejection after the diagnosis, treatments, its complications particularly its limited success rates. This paper reviews the basic concepts, theoretical models related to infertility specific distress (ISD). It elaborates on the effects of individual and treatment-specific variables on ISD with special highlights gathered from the national and international research.

Examination of Y-chromosomal microdeletions and partial microdeletions in idiopathic infertility in East Hungarian patients Attila Mokánszki, Anikó Ujfalusi, Éva Gombos, István Balogh Journal of Human Reproductive Sciences 2018 11(4):329-336 Purpose: The aim of this study was to establish the Y chromosome microdeletion and partial AZFc microdeletion/duplication frequency firstly in East Hungarian population and to gain information about the molecular mechanism of the heterogeneous phenotype identified in males bearing partial AZFc deletions and duplications. Materials and Methods: Exactly determined sequences of azoospermia factor (AZF) region were amplified. Lack of amplification was detected for deletion. To determine the copy number of DAZ and CDY1 genes, we performed a quantitative analysis. The primers flank an insertion/deletion difference, which permitted the polymerase chain reaction products to be separated by polyacrylamide gel electrophoresis. Statistical Analysis Used: Mann–Whitney/Wilcoxon two-sample test, Kruskal–Wallis test, and two-sample t-probe were used for statistical analysis. Results: AZFbc deletion was detected only in the azoospermic cases; AZFc deletion occurred significantly more frequently among azoospermic patients, than among oligozoospermic males. The frequency of gr/gr deletions was significantly higher in the oligozoospermic patients than in the normospermic group. The b2/b3 deletion and partial duplications were not different among our groups, while b1/b3 deletion was found only in the azoospermic group. In infertile males and in normozoospermic controls, similar Y haplogroup distribution was detected with the highest frequency of haplogroup P. The gr/gr deletion with P haplogroup was more frequent in the oligozoospermic group than in the normozoospermic males. The b2/b3 deletion with E haplogroup was the most frequent, found only in the normozoospermic group. Conclusions: Y microdeletion screening has prognostic value and can affect the clinical therapy. In case of Y chromosome molecular genetic aberrations, genetic counseling makes sense also for other males in the family because these types of aberrations are transmittable (from father to son 100% transmission).

A study on balanced chromosomal translocations in couples with recurrent pregnancy loss Pritti K Priya, Vineet V Mishra, Priyankur Roy, Hetvi Patel Journal of Human Reproductive Sciences 2018 11(4):337-342 Background: Recurrent pregnancy loss (RPL) is an obstetric complication that affects couples in their reproductive age. Chromosomal abnormalities, mainly balanced rearrangements, could commonly be present in couples with RPL. Aim: The purpose of this study is to evaluate the contribution of chromosomal abnormalities and balanced reciprocal translocations, in particular occurring in either of the partners, resulting in RPL. Materials and Methods: A retrospective cytogenetic study was carried out on 152 individuals (76 couples) having a history of RPL. The cases were analyzed using G-banding and fluorescence in situ hybridization, wherever necessary. Results: Chromosomal abnormalities were observed in 3.2% of the total RPL cases, of which balanced translocations were observed in 4 (80%) individuals and marker chromosome was detected in 1 (20%) individual. All balanced translocations comprised reciprocal translocations, and no cases of Robertsonian translocations were detected in our study. Among reciprocal translocation carriers, three were male and one was female. Polymorphic variants were noted in 8 (5.3%) individuals. Conclusions: Chromosomal analysis is an important etiological investigation in couples with RPL. Balanced translocations are the most commonly detected chromosomal abnormalities in such couples. Thus, these couples are the best candidates for offering prenatal genetic diagnosis, thereby ensuring a better reproductive outcome.

Circulating levels of vitamin D3 and leptin in lean infertile women with polycystic ovary syndrome Ayman Shehata Dawood, Adel Elgergawy, Ahmed Elhalwagy Journal of Human Reproductive Sciences 2018 11(4):343-347 Objective: The objective of this study is to measure levels of Vitamin D3 and leptin and assess their relation of each to the pathogenesis of polycystic ovary syndrome (PCOS). Design: This was a cohort observational study. Settings: This study was conducted at the Department of Obstetrics and Gynecology, Tanta University. Materials and Methods: Ninety lean women were enrolled in this study and were allocated into two groups with 45 patients in each group: the first group (study group) who are lean women with PCOS and the second group (control group) who are the lean infertile patients without PCOS. Blood samples were collected and tested for study parameters. Results: There were no significant differences regarding demographic characteristics between both groups. The differences were in ovarian volume and hormonal profiles. Serum leptin was found to be significantly increased in lean PCOS than in control groups. Vitamin D3 levels were found to be lower in the lean PCOS group than in control group. Conclusion: Lean PCOS women are a unique group with specific hormonal profiles different from the typical PCOS profiles. Leptin and Vitamin D3 may have a role in the pathogenesis of lean PCOS, but large studies are still required regarding this unique group.

Effect of insulin sensitizers on raised serum anti-mullerian hormone levels in infertile women with polycystic ovarian syndrome Neeti Chhabra, Sonia Malik Journal of Human Reproductive Sciences 2018 11(4):348-352 Context: Increased circulating insulin levels contribute to hyperandrogenism in polycystic ovarian syndrome (PCOS) which causes a derangement in folliculogenesis, thus contributing to polycystic morphogenesis of the ovaries and a higher than normal anti-Mullerian hormone (AMH). A high AMH is an indicator of either stubborn anovulation or a predictor of ovarian hyperstimulation syndrome. Hence, it is postulated that the use of insulin sensitizers will reduce insulin resistance, hyperandrogenism, and subsequently serum AMH levels and will convert anovulatory cycles to ovulatory. Aim: To study the effect of insulin sensitizers on raised serum AMH levels in infertile women with PCOS. Settings and Design: This was a prospective interventional randomized single tertiary center study. Methodology: The study was conducted from August 2015 to April 2016. Infertile patients with PCOS as defined by the Rotterdam criteria with raised AMH (>5 ng/ml) levels were enrolled in the study under strict inclusion and exclusion criteria. The sample size was 105 patients. Cycle regularity, day 2–antral follicle count (AFC), luteinizing hormone, AMH levels, modified Ferriman–Gallwey score (mFGS), and acne score were recorded before starting the intervention. Patients were randomized into three equal groups of 35 each. Group A received metformin alone, Group B metformin plus myoinositol, and Group C only myoinositol. After completion of 3 months of pretreatment, the same parameters were rechecked. Statistical Analysis Used: Univariate analysis and Chi-square test were used for statistical analysis. Results: Of 105 patients, 95 completed treatment and the rest 10 dropped out. There was a reduction in AMH in all groups of insulin sensitizers with significant fall in the metformin only group. Cycle regularity, reduction in AFC, mFGS, and grade of acne were also obtained. Conclusions: Therapy with insulin sensitizers in PCOS women with raised AMH reduces the AMH levels, converts irregular menstrual cycles to regular, and reduces clinical hyperandrogenism.

Window of implantation is significantly displaced in patients with adenomyosis with previous implantation failure as determined by endometrial receptivity assay Nalini Mahajan, Simrandeep Kaur, Maria Ruiz Alonso Journal of Human Reproductive Sciences 2018 11(4):353-358 Background: Adenomyosis is associated with implantation failure and poor reproductive performance in IVF/ICSI cycles. Aims: To compare if window of implantation (WOI) is displaced in patients having adenomyosis compared to controls using endometrial receptivity array (ERA) test. Settings and Design: Retrospective Case control study. 374 patients with previous one or more IVF failures who underwent ERA test between 2013-2016 at our centre were enrolled. Patients were divided into two groups; Group A-36 patients with adenomyosis (study group) and Group B- 338 patients without adenomyosis (controls). Statistical Analysis: Normality assumptions for continuous variables were tested using Kolmogorov Smirnov test. Mean values of two groups were compared using Student's t-independent test. Frequency data by categories were compared using Chi-square/Fisher's exact test. Risk ratio and 95% confidence limits were calculated. P < 0.05 was considered for statistical significance. Results: WOI was displaced (Non Receptive ERA) significantly in adenomyosis 47.2% (17/36) compared to controls 21.6% (73/338) (P < 0.001, CI-8.7%-42.5%) making risk ratio of displaced WOI in adenomyosis versus controls to be 2:1. The incidence of RIF was 66.6% in adenomyosis compared to 34.9% in controls (P < 0.001, CI- 15.5%-47.9%). Pregnancy rate after personalized embryo transfer in adenomyosis group was 62.5%, signifying displaced WOI as a cause of implantation failure in adenomyosis patients with previous implantation failure. Conclusions: Our study suggests it is prudent to evaluate Endometrial receptivity before embryo transfer in patients with adenomyosis to avoid wastage of good embryos.

Knowledge about age-related decline in fertility and oocyte cryopreservation: A national survey Karissa C Hammer, Alyssa N Kahan, Louis F Fogg, Mark A Walker, Jennifer E Hirshfeld-Cytron Journal of Human Reproductive Sciences 2018 11(4):359-364 Context: Women worldwide are delaying childbearing, but are they aware of the age-related decline in fertility? Aims: The aim of this study is to investigate awareness of age-related decline in fertility and oocyte cryopreservation. Settings and Design: A primary analysis of a cross-sectional electronic survey with a nationally representative sample of nulliparous women aged 25–45 years. Subjects and Methods: A national online survey performed March 4–March 9, 2016. Statistical Analysis Used: A linear regression model and ANOVA tests were performed. Results: A total of 1213 women completed the survey. A significant difference was discovered in fecundity knowledge between women who identified as in a partnership compared to those who did not. Partnered women were more likely to respond “know a lot” about the age-related decline in fertility, whereas unpartnered women were more likely to respond “never heard of it” (P < 0.01). Partnered women are also more likely to respond that they would have made different life choices had they been more knowledgeable about fertility at a younger age (P = 0.01). The majority of the survey population had heard of oocyte cryopreservation but did not know much about it. Conclusions: Slightly over half of participants had an understanding of the natural age-related decline in fertility. Having a partner significantly increased the likelihood that a woman reported more knowledge about fertility. More effort is necessary to educate all women on assisted reproductive technologies and the natural age-related decline in fertility, specifically single women of childbearing age.