Journal of Reproduction & Infertility
Volume:24 Issue: 4, Oct-Dec 2023

Cell-free fetal DNA (cffDNA) is a novel screening method for fetal aneuploidy that facilitated non-invasive prenatal testing (NIPT) through analysis of cffDNA in maternal plasma. However, despite increased sensitivity, it has a number of limitations that may complicate of its results interpretation. Therefore, elucidating factors affecting fetal fraction, as a critical limitation, guides its clinical application.

In this report, systematic search was carried out through PubMed, Web of Science, and Scopus databases until February 11, 2022 by using keywords consist of "noninvasive prenatal screening", "NIPT", "noninvasive prenatal", "cell free DNA" and "fetal fraction". The articles were screened for eligibility criteria before data extraction.

A total of 39 eligible studies, most published between 2010 and 2020, were included. Based on the results of studies, a negative correlation between maternal age and BMI/body weight with fetal fraction was found. Furthermore, LDL, cholesterol, triglyceride level, metformin, heparin and enoxaparin therapy, hemoglobinrelated hemoglobinopathies, and physical activity showed to have negative associations. Interestingly, it seems the ethnicity of patients from South and East Asia has a correlation with fetal fraction compared to Caucasians. Positive correlation was observed between gestational age, free β-hCG, PAPP-A, living in high altitude, and twin pregnancy.

Considering each factor, there was significant inconsistency and controversy regarding their impact on outcomes. Indeed, multiple factors can influence the accuracy of NIPS results, and it is worth noting that the impact of these factors may vary depending on the individual’s ethnic background. Therefore, it is important to recognize that NIPS remains a screening test, and comprehensive pre- and postNIPS counseling should be conducted as part of standard clinical practice.

Since endometriosis causes a decrease in oocyte quality, the success rate of in vitro fertilization cycles decreases. The purpose of the current study was to analyze the effect of endometriosis on intracellular calcium levels, Cdk1 expression, and cyclin B expression in oocytes.

Thirty-two mice (Mus musculus) were divided into control and endometriosis groups. The cumulus oocyte complex (COC) were obtained in all groups. Denudated cells were assessed for calcium levels by calorimetric examinations. Complex oocytes were examined for Cdk1 and cyclin B expression by immunecytochemistry and were read under a microscope.

Intercellular calcium levels, Cdk1, and cyclin B expression were significantly lower in the endometriosis group than in the control group. There was a significant relationship between calcium levels and Cdk1 expression (p<0.05, r=0.659), a significant relationship between calcium levels and cyclin B expression (p<0.05, r=0.885), and also a significant correlation between Cdk1 and cyclin B expression (p<0.05, r=0.537).

The data presented in this study suggested that the intracellular oocyte calcium level, Cdk1 expression, and cyclin B expression were lower in mice with endometriosis. A positive correlation was observed between calcium levels and the expression of Cdk1 and cyclin B. Furthermore, a positive correlation was also found between Cdk1 and cyclin B expression.

The function of follicle-stimulating hormone (FSH) is mediated by binding to its G-protein coupled receptor (GPCR) which is expressed on granulosa cells of the ovary. The purpose of the current study was to examine the impact of FSHR G2039A polymorphism (rs6166; Ser680Asn) on clinical and radiology profiles of women with primary amenorrhea (PA) in Gujarat, India.

A total of 90 women (45 controls and 45 cases) were recruited for the study after obtaining informed consent. The DNA extraction was performed on the venous blood samples collected from the participants, followed by polymerase chain reaction (PCR). The presence of polymorphism was then analyzed using restriction fragment polymorphism (RFLP) with the BSeNI enzyme. The statistical analysis was conducted using an independent t-test, chi-square test, and ANOVA. Significance was determined by a p<0.05.

Results revealed that homozygous wild type genotype was observed in 46.7% (n=21) of the control group and 11.1% (n=5) of the case group. Heterozygous genotype was observed in 33.3% (n=15) of the control group and 55.6% (n=25) of the case group (p<0.001). Homozygous mutant genotype was observed in 20% (n=9) of the control group and 33.3% (n=15) of the case group (p<0.01). The hormonal profile revealed that serum levels of FSH and luteinizing hormone (LH) were significantly higher (p<0.05) in the AA and AG genotypes compared to the GG genotypes.

The FSHR rs6166 G2039A was associated with PA in women, and the A allele could be considered a causative risk factor in developing the condition.

The purpose of the study was to determine the cut-off values for peripheral and uterine natural killer (pNK, uNK) cells in fertile controls and in women with recurrent implantation failure (RIF).

In this study, 50 women with RIF and 50 fertile controls were enrolled. Midluteal endometrial biopsy samples from both cases and controls were obtained for CD 56+ cell immunohistochemistry labeling to identify uNK cells. Peripheral venous blood was also taken during the biopsy to detect pNK cells in peripheral blood mononuclear cells using flow cytometry. Cut-off values were obtained from fertile controls. Using a non-parametric Mann-Whitney U-test, the medians of the data sets were compared.

The median values for uNK and pNK cell levels in the control group were 7% and 11.6%, respectively. The median value for uNK cells in RIF patients was 9%, which was higher than the one in controls but not statistically significant (pvalue of 0.689). The median pNK levels (11.6% vs. 12.4%) were comparable between the RIF group and the controls. Moreover, it was found that 68% of individuals had uNK cell counts below the reference value, while 32% had excessive levels exceeding 7%. Additionally, only 51.4% of the RIF group had increased pNK cells.

The pNK cell cut-off values need to be used with caution because there was no difference between fertile controls and RIF women. If immunotherapy is recommended for RIF women, uNK cell testing should be used as the preferred approach.

Male infertility is usually determined by the manual evaluation of the semen, namely the standard semen analysis. It is currently impossible to predict sperm fertilizing ability based on the semen analysis alone. Therefore, a more sensitive and selective diagnosis tool is required.

Twelve fresh semen samples were collected from fertile volunteers attending the Avicenna Fertility Center (Tehran, Iran). The seminal plasma (SP) was prepared and subjected to liquid chromatography-tandem mass spectrometry (LC-MS/MS), and the total antioxidant capacity (TAC) was analysis. Thirty-four amino acids including essential amino acids (EAA), non-essential amino acids (NEAA), and non-proteinogenic amino acids (NPAA) relative concentration were determined, and the correlation between their concentration with spermiogram parameters and TAC of the SP was analyzed.

Significant positive correlations have been found between selected amino acids with the motility (Met and Gln, rs=0.92; Cys, rs=0.72; and Asn, rs=0.82), normal sperm morphology (Met, rs=0.92; Cys, rs=0.72; Glu, rs=0.92; and Asn, rs=0.82), and sperm concentration (Trp, Phe, and Ala). In contrast, several AAs, including Gly, Ser, and Ile showed negative correlations with sperm concentration (rs=-0.93, r=-0.92, and r=-0.89, respectively). Furthermore, TAC showed a positive association only with Tyr (rs=0.79).

The strong positive/negative correlations between the seminal metabolic signature and spermiogram demonstrate the significance of determining metabolite levels under normal conditions for normal sperm functions. Combining the metabolome with the clinical characteristics of semen would enable clinicians to look beyond biomarkers toward the clinical interpretation of seminal parameters to explain the biological basis of sperm pathology.

The purpose of the study was to assess whether the coadministration of 150 IU of recombinant LH instead of 75 IU in women aged 35-39 improves the results in agonist ICSI cycles stimulated with 300 IU of recombinant FSH.

In this study, two ovarian stimulation protocols coexisted which were identical except in the administered dose of recombinant LH, for which some patients received 150 IU (n=231) and some received 75 IU (n=216). Both groups received 300 IU of recombinant FSH. Gonadotropins were reimbursed by the National Health System. Statistical analysis was performed by Student’s t test, χ2 , and ANCOVA. Significance level was established at p=0.05.

The number of retrieved oocytes was slightly higher in the 300/150 group (9.06±5.53 vs. 8.61±5.11), but the differences were not significant. Results were similar with the number of metaphase II oocytes (7.18±4.86 vs. 6.72±4.72) and the number of fertilized oocytes (4.64±3.2 vs. 4.23±2.72). The per-transfer clinical pregnancy rates exhibited close similarity between both groups (32.84% vs. 32.46%), as did the per-transfer live birth rates (29.90% vs. 30.37%) and the implantation rate. The rate of hyperstimulation syndrome (OHSS) as well as the rate of cancellation due to OHHS risk was similar in both groups. There was also no difference in the miscarriage rate. When results were expressed by per started cycle or by oocyte pick-up, the results remained very similar in both groups.

In women aged 35-39 undergoing ovarian stimulation with recombinant FSH in agonist cycles, the coadministration of 75 or 150 UI of recombinant LH did not influence pregnancy rates. However, a slight increase in the number of retrieved oocytes should not be disregarded.

The efficiency of in vitro fertilization is improved by growth hormone (GH) during ovarian stimulation. Additionally, patients with diabetes experience impaired insulin resistance and compromised glucose tolerance, which further exacerbate their condition. Due to these side effects, in this study, the duration of GH treatment was compared in IVF/ICSI cycles among poor ovarian responders.

In this study, POSEIDON criteria were used to choose patients. Subcutaneous administration of gonadotropin-releasing hormone (GnRH) antagonist was done beginning on the sixth day of the cycle and continuing through the day of human chorionic gonadotropin (hCG) injection. In one group, GH was administered 4 units/day from the 2nd day of the cycle until hCG injection, and in another group, the first dose was administered on the 6th day of the cycle. Following the administration of hCG, which lasted from 24 to 36 hr, oocytes were retrieved with the support of B-mode sonography.

In our analysis, no significant differences were observed between the two groups in terms of the number of retrieved oocytes, metaphase II oocytes, and quality of grade A and B embryos. The results show that the treatment or conditions did not have a significant impact on the outcomes among the studied groups.

Our findings indicate that a shorter duration of GH administration can yield similar outcomes compared to a longer duration in IVF/ICSI cycles involving poor ovarian responders. This result holds the potential for a more cost-effective and patient-friendly approach in managing assisted reproductive technology procedures. It may lead to reduced side effects and improved adherence to medication regimens in patients.

Infertility is an escalating global concern, impacting approximately one-sixth of the reproductive age population worldwide. Employing data from the National Family Health Survey-5 (NFHS-5, 2019-21), this study assessed the prevalence of primary infertility at both national and state levels in India.

The data of the study was extracted from the National Family Health Survey and Individual file (women file) of the fifth round of NFHS encompassing a sample of 491,484 currently married women in the age group of 15–49 years.

The findings showed that the prevalence of infertility is 18.7 per 1,000 women among those married for at least five years and currently in union. This prevalence increases as the duration of marriage decreases. On a state-level analysis, regions such as Goa, Lakshadweep, and Chhattisgarh exhibit the highest burdens.

These findings underscore the growing challenge posed by primary infertility in India, calling for targeted interventions and policy measures. The establishment of a national infertility surveillance system is of pivotal importance in addressing this pressing public health issue.

Males with 45,X/46,XY karyotype have two different types of cells. This condition is associated with a wide range of clinical phenotypes. In infertile males, the mosaic 45,X/46,XY karyotype is a frequent sex chromosome defect and they might be able to conceive with the help of assisted reproductive technology; nevertheless, there is a potential risk of transmission of azoospermia factor (AZF) microdeletions in addition to 45,X to all the male progeny. In this case report, the purpose was to present a rare sex chromosomal mosaicism of an infertile man.

Comprehensive molecular and cytogenetic analysis of an infertile male was performed in this case study. A 27-year-old male was presented with history of azoospermia and was unable to conceive after being involved in five years of marriage. Cytogenetic investigation revealed a rare mosaic karyotype pattern of 45,X/46,X,del(Y)(q12→qter). Y chromosome microdeletion (YMD) analysis revealed notable deletions of 06 loci. Comparative genomic hybridization (CGH) microarray was performed to investigate probable functional genetic associations.

Deletion of Y-linked genes leads to different testicular pathological conditions contributing to male infertility. Individuals with normal male phenotype harbor YMD, although size and location of the deletion do not always correspond well with quality of sperm. Therefore, in addition to semen analysis, identification of genetic variables is important which will play a crucial role in proper diagnosis and management of infertile couples. The present case study demonstrates the significance of comprehensive molecular testing and cytogenetic screening for individuals with idiopathic infertility.

Robertsonian translocations (RobTs) are one of the major chromosomal abnormalities which lead to spontaneous abortion. They occur in the human population at the rate of 1 in 1000 live infants. In this paper, a family carrying one of the rare RobTs was presented and some features of all kinds of RobTs were reviewed.

A couple with a history of three miscarriages was referred to Omid Health Clinic of Hamadan, Iran. The karyotype of the woman was 45,XX, rob(14;15)(q10;q10) and she exhibited phenotypically good health. Karyotype analysis of proband’s uncle and his wife with a consanguineous marriage revealed that they were both carriers of rob(14;15). This couple had six offspring, three of which were dead, and the other three were alive with a normal phenotype. Besides, this couple had an unborn child, with a karyotype of 44,XX,rob(14;15)(q10;q10).

These observations showed that genetic counseling, pedigree, and chromosomal analysis are needed to discover the cause of spontaneous abortion, stillbirth, congenital anomalies, sudden infant death syndrome (SIDS), etc. Moreover, families carrying RobTs would be offered prenatal diagnosis screening tests and, if necessary, assisted reproductive technology methods to assist with preimplantation genetic test for structural rearrangement (PGT-SR) reproduction.