Assisted Reproductive Technology Patients Research Articles

The importance of on-site genetic counseling for prospective assisted reproductive technology patients.

To assess the value of having an onsite genetic counseling service integrated into an assisted reproductive technology (ART) center. Since January 2021, we have offered genetic counseling at our ART center for couples whose medical history suggests risk of transmission of a genetic disorder. The percentage of couples referred for genetic counseling, the distribution of couples according to reasons for consultation, the mode of transmission in cases of Mendelian disorders, and the frequency of mutations for those with identified genetic disorders were determined. In an 18-month period, 150 of 1340 couples (11.2%) enrolled for ART treatment were referred to the genetic counseling unit. Two-thirds (99/150, 66.0%) were referred for a known genetic risk, a family history of a genetic disorder or chromosomal abnormality, a serious condition of unknown cause, or consanguinity. The remaining couples had a putative genetic risk (diminished ovarian reserve, high incidence of oocyte immaturity, recurrent abortion, or severe male infertility). Of the 99 with known genetic risk, 62 (62.7%), were approved for ART treatment, 23 (23.2%) were recommended prenatal or preimplantation testing, and 14 (14.1%) were referred for further testing before undergoing ART. Our findings reveal great value in having an on-site genetic counseling unit for referral of ART patients. Such a unit makes the ART process smoother and safer for couples, and it lightens the burden of ART staff by removing responsibilities for which they are neither trained, nor should they have to assume.

Cell-based therapy in thin endometrium syndrome

Of the known causes of uterine factor infertility, Ashermans syndrome or the so-called intrauterine synechia, chronic endometritis and endometrial hypoplastic processes are most often distinguished. Thin endometrial syndrome is characterized by a decrease in the thickness of the endometrium to 7 mm or less in the proliferative phase of the menstrual cycle and a multiple decrease in the frequency of embryo implantation.
 Numerous treatment strategies have so far been proposed for treating refractory thin endometrium syndrome. Recently, cell therapy has been proposed as an ideal alternative for endometrium regeneration, including the employment of stem cells, platelet-rich plasma, and growth factors as therapeutic agents. Single center, prospective, open-label study of efficacy of cell-based therapy in the complex treatment of thin endometrium syndrome in patients with infertility was conducted. The study involved 36 women aged 28 to 36 years, the middle age was 34.2 1.1 years. All patients included in the study received 3 cycles of intrauterine administration of a suspension of autologous stem cells isolated from bone marrow. Bone marrow was successfully aspirated from the iliac crest in all patients. Mononuclear cells was isolated by density gradient centrifugation according to the standard method. The cell material was cryopreservated and thawed immediately before administration. The procedure for intrauterine transplantation of isolated but not cultured cells was performed on the 5th7th day of the menstrual cycle. There were no significant adverse events related to harvest or administration. The thickness of the endometrium before and after treatment was 2.39 0.64 and 6.56 0.94 mm (t = 21.94, p = 0.0001), respectively. The rate of patients with an endometrial thickness of more than 7 mm after treatment was 77.8%. The effectiveness of assisted reproductive technology in patients with normal endometrial (n = 28) was 32.1%. Immunohistochemistry confirms the presence of chronic endometritis before and after treatment in 22 (61.1%) and 19 (52.8%) patients, respectively, while after treatment a significant decrease in the levels inflammatory markers was found.

Financial costs of assisted reproductive technology for patients in low- and middle-income countries: a systematic review.

What are the direct costs of assisted reproductive technology (ART), and how affordable is it for patients in low- and middle-income countries (LMICS)? Direct medical costs paid by patients for infertility treatment are significantly higher than annual average income and GDP per capita, pointing to unaffordability and the risk of catastrophic expenditure for those in need. Infertility treatment is largely inaccessible to many people in LMICs. Our analysis shows that no study in LMICs has previously compared ART medical costs across countries in international dollar terms (US$PPP) or correlated the medical costs with economic indicators, financing mechanisms, and policy regulations. Previous systematic reviews on costs have been limited to high-income countries while those in LMICs have only focussed on descriptive analyses of these costs. Guided by the preferred reporting items for systematic reviews and meta-analyses (PRISMA), we searched PubMed, Web of Science, Cumulative Index of Nursing and Allied Health Literature, EconLit, PsycINFO, Latin American & Caribbean Health Sciences Literature, and grey literature for studies published in all languages from LMICs between 2001 and 2020. The primary outcome of interest was direct medical costs paid by patients for one ART cycle. To gauge ART affordability, direct medical costs were correlated with the GDP per capita or average income of respective countries. ART regulations and public financing mechanisms were analyzed to provide information on the healthcare contexts in the countries. The quality of included studies was assessed using the Integrated Quality Criteria for Review of Multiple Study designs. Of the 4062 studies identified, 26 studies from 17 countries met the inclusion criteria. There were wide disparities across countries in the direct medical costs paid by patients for ART ranging from USD2109 to USD18592. Relative ART costs and GDP per capita showed a negative correlation, with the costs in Africa and South-East Asia being on average up to 200% of the GDP per capita. Lower relative costs in the Americas and the Eastern Mediterranean regions were associated with the presence of ART regulations and government financing mechanisms. Several included studies were not primarily designed to examine the cost of ART and thus lacked comprehensive details of the costs. However, a sensitivity analysis showed that exclusion of studies with below the minimum quality score did not change the conclusions on the outcome of interest. Governments in LMICs should devise appropriate ART regulatory policies and implement effective mechanisms for public financing of fertility care to improve equity in access. The findings of this review should inform advocacy for ART regulatory frameworks in LMICs and the integration of infertility treatment as an essential service under universal health coverage. This work received funding from the UNDP-UNFPA-UNICEF-WHO-World Bank Special Programme of Research, Development and Research Training in Human Reproduction (HRP), a cosponsored programme executed by the World Health Organization (WHO). The authors declare no competing interests. This review is registered with PROSPERO, CRD42020199312.

Increased cytotoxic natural killer cells in the endometrium alone cannot be considered the immunological cause of recurrent miscarriage

To study the distribution and gene expression of endometrial immune cell populations, especially natural killer (NK) subsets, between assisted reproductive technology patients and healthy donors and explore a possible relationship of these results with patients' killer cell immunoglobulin-like receptor (KIR) genotypes and KIR-human antigen leukocyte-C (HLA-C) binding. Prospective observational cohort study. Clinic and university laboratories. Participants included 39 women with recurrent miscarriages who had undergone invitro fertilization cycles with donated oocytes and 21 healthy oocyte donors with proven fertility. Endometrial biopsy samples were collected from both patients and donors, and the KIR genotypes of the assisted reproductive technology patients were analyzed. Endometrial gene expression (cluster of differentiation [CD] antigens and anti-inflammatory and proinflammatory interleukins) and the number and percentage of regulatory T and NK cell populations in patients and donors were determined. Subsequently, the results obtained were categorized in the group of patients by KIR genotype. Killer cell immunoglobulin-like receptor-HLA-C binding was also examined in patients, considering their KIRs. A higher percentage of CD56dimCD16+ NK cells were observed in patients than those in healthy donors. Nevertheless, when categorizing patients by KIR genotype and comparing the KIR AA (35.9%), AB (43.6%), and BB (20.5%) groups, no statistically significant difference was observed in either endometrial gene expression or any of the immune cell populations analyzed. Finally, no differences in binding between KIR and HLA-C molecules were registered among these 3 sets of patients. The reported increase in the number of NK cells with a cytotoxic profile in the endometrium of women with a history of recurrent miscarriages cannot alone explain these events because no relationship is observed between such cellular increase and the KIR genotypes, which individually, and in combination with the different HLA-C alleles, have also been associated, by previous studies, with negative reproductive outcomes. 1405-MAD-025-JG.

Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection.

As a specific type of asthenoteratozoospermia, multiple morphological abnormalities of the sperm flagella (MMAF) is characterized by composite abnormalities, including absent, short, coiled, angulation, and irregular-caliber flagella. Mutations in cilia- and flagella-associated protein 43 ( CFAP43 ) are one of the main causative factors of MMAF established to date. To identify whether there are other CFAP43 mutations related to MMAF and to determine the clinical outcomes of assisted reproductive technology for patients with MMAF harboring different mutations, we recruited and screened 30 MMAF-affected Chinese men using a 22-gene next-generation sequencing panel. After systematic analysis, seven mutations in CFAP43 , including five novel mutations and two previously reported mutations, were identified from four families and related to MMAF in an autosomal recessive pattern. Papanicolaou staining, immunofluorescence, and electronic microscopy further clarified the semen characteristics and abnormal sperm morphologies, including disorganized axonemal and peri-axonemal structures, of the CFAP43 -deficient men. The female partners of two patients were pregnant after undergoing assisted reproductive technology through intracytoplasmic sperm injection, and one of them successfully gave birth to a healthy boy. This study significantly expands the mutant spectrum of CFAP43 , and together with the available information regarding male infertility and MMAF, provides new information for the genetic diagnosis and counseling of MMAF in the future.

Features of protocols of assisted reproductive technologies in patients of the older age group depending on the ovarian stimulation drug: recombinant follicle-stimulating hormone or highly purified human menopausal gonadotropins

Introduction. An actual task of reproductive medicine is a comparative analysis of the use of highly purified urinary gonadotropins and recombinant FSH preparations for ovarian stimulation in in vitro fertilization programms in older patients. This was suggested on the basis of data available in the literature on the possible positive effect of LH on the effectiveness of various stages of ART programs in this category of women. Aim. To compare the parameters of ovarian stimulation, gametogenesis, early embryogenesis, pregnancy rate (PRF) in patients of older reproductive age in ART programs who underwent ovarian stimulation using drugs containing FSH + LH or drugs containing recombinant FSH. Materials and methods. The study included 44 patients aged 35 to 40 years with infertility due to tubal- peritoneal and non-severe male factor treated with ART techniques. In 50% of patients, ovarian stimulation was performed with highly purified urinary gonadotropin, in 50 % – with rFSH preparations. Results. The characteristics of the embryological stage in both groups showed high rates, comparable with global data. The frequency of pregnancy and early miscarriage was comparable in both groups. Conclusions. Ovarian stimulation with MHT is effective, safe and can be recommended for patients of older reproductive age.

Cross-border reproductive care: an Ethics Committee opinion

Cross-border reproductive care is a growing worldwide phenomenon, raising questions about why assisted reproductive technology patients travel for care, what harms and benefits may result, and what duties health care providers may have in advising and treating the patients who travel for reproductive services. Cross-border care may benefit or harm assisted reproductive technology stakeholders, including patients, offspring, providers, gamete donors, gestational carriers, and local populations in destination countries. This document replaces the previous document of the same name, last published in2016.

In Vivo and In Vitro Matured Oocytes From Mice of Advanced Reproductive Age Exhibit Alternative Splicing Processes for Mitochondrial Oxidative Phosphorylation.

The mean age of women seeking infertility treatment has gradually increased over recent years. This has coincided with the emergence of in vitro maturation (IVM), a method used in assisted reproductive technology for patients with special requirements. However, when compared with conventional in vitro fertilization, IVM is associated with poor embryonic development potential and low live birth rates, thus limiting the widespread application of this technique. In this study, we performed RNA-sequencing transcriptomic assays and identified a total of 2,627 significant differentially expressed genes (DEGs) between IVM oocytes and in vivo matured oocytes from mice of advanced reproductive age. Next, Kyoto Encyclopedia of Genes and Genomes pathway analysis was used to identify the potential functions of the DEGs. The most significantly enriched pathway was oxidative phosphorylation (OXPHOS). In addition, we constructed a protein-protein interaction network to identify key genes and determined that most of the hub genes were mtDNA-encoded subunits of respiratory chain complex I. Antioxidant supplementation lead to an increase in ATP production and reduced the gene expression profile of the OXPHOS pathway in the IVM group. Moreover, alternative splicing (AS) events were identified during in vivo or in vitro oocyte maturation; data showed that skipped exons were the most frequent type of AS event. A number of genes associated with the OXPHOS pathway exhibited alterations in AS events, including Ndufa7, Ndufs7, Cox6a2, Ndufs5, Ndufb1, and Uqcrh. Furthermore, the process of IVO promoted the skipping of exon 2 in Ndufa7 and exon 3 in Ndufs7 compared with the IVM oocytes, as determined by semi−quantitative RT−PCR. Collectively, these findings provide potential new therapeutic targets for improving IVM of aged women who undergo infertility treatment.

Comparative effectiveness of infertility treatment using assisted reproductive technologies in patients with various forms of endometriosis and its combination with polycystic ovary syndrome

AIM: The purpose of this study is to investigate the influence of various forms of endometriosis and its combination with PCOS on the outcome of assisted reproductive technology programs (ART) with relation to ovarian stimulation.
 MATERIALS AND METHODS: During a retrospective examination, we analyzed the results of 241 ART cycles. All patients were divided into three groups: group A: endometriosis (85 ART cycles); group B: combination with PCOS (53 ART cycles), comparison group with tuboperitoneal infertility (103 ART cycles). Group A was subdivided into subgroup A1 with stage I / II endometriosis (50 cases, 58.82%) and subgroup A2 with stage III / IV endometriosis (35 cases, 41.18%). At the first stage of the study, we evaluated the anamnesis and the results of clinical and laboratory tests. During the second stage, we performed laparo- and hysteroscopy surgeries and determined the stage of endometriosis as well as the presence of concomitant pathologies. At the third stage, we performed infertility treatment using ART.
 RESULTS: The highest FSH dose was employed in group A2 with the ovarian stimulation performed with GnRH-a: 2230.80 614.09 IU. The minimal dose was used for group A1 (stimulation with antGnRH): 1171.43 547.42 IU. The highest pregnancy rate per embryo transfer (PR) was detected in group A1 with the use of GnRH-a (50%,) higher than in the comparison group (42.72%). The minimal PR (14.29%) was found in group A2 (stimulation with antGnRH). Live Birth Rate (LBR) was higher in A1 patients stimulated with GnRH-a (40.48%), while with the use of antGnRH, all pregnancies terminated in both groups A1 and A2.
 CONCLUSIONS: Our study confirmed that common forms of endometriosis are associated with a decrease in the effectiveness of infertility treatment using ART, but minimal forms of endometriosis do not affect the outcomes of ART cycles. The study revealed a negative impact of an ovarian stimulation protocol with the use of antGnRH on IVF outcomes including patients with the combination of endometriosis and PCOS. However, the small number of cases studied dictates further research to be conducted in this field.

A NOVEL ZONA PELLUCIDA (ZP)-FREE CULTURE SYSTEM FOR SEVERE CYTOPLASMIC FRAGMENTATION CASES: A PILOT STUDY USING 3PN EMBRYOS AND TIME-LAPSE CINEMATOGRAPHY

A study in 2017 observed perivitelline threads in more than 50% of cleavage-stage human embryos using time-lapse imaging, and the rate of cytoplasmic fragmentation (at the first cleavage) was significantly decreased in embryos without perivitelline threads (P < 0.001). While it is proposed that perivitelline threads play an important role in crosslinking the cumulus cells and oocyte during maturation, the mechanism underlying such a role remains unclear. It is also unknown whether the threads still function in mature MII oocytes. Therefore, in this study, zona pellucida of abnormally-fertilized oocytes which were donated by patients was removed at pronuclear stage. Those ZP-free oocytes were observed in time-lapse culturing system in order to examine developmental morphology. This study used 57 abnormally fertilized (3PN) embryos (cIVF: n = 51, ICSI: n = 6) donated by assisted reproduction technology patients in our clinic with informed consent since 2017. After confirming the three pronuclei, we removed the ZP from each 3PN embryo using a laser, and the resultant ZP-free embryos were cultured and observed in an incubator equipped with a time-lapse imaging system. For ZP removal, 3PN embryos were placed in drops of 0.125M sucrose-containing HEPES media that had been covered with mineral oil and warmed to 37°C. Despite a small reduction in ooplasm size, half of the ZP was removed by laser (Saturn 5; Origio、Lykos; Hamilton Thorne). Subsequently, the ooplasms were completely separated from their ZPs by pipetting, and these ZP-free 3PN embryos were cultured continuously for 5 days with time-lapse imaging. Of 58 ZP-free embryos in total, 54 (94.7%) were cleaved, and there was no significant decrease in cleavage rate compared to 2PN embryos (98%) used routinely in our clinic. Furthermore, 28 of the 54 embryos (51.9%) developed to the morula stage after third cleavage, and 18 embryos (33.3%) formed a blastocoel and became blastocysts. Thus, removing the ZP before cleavage did not adversely affect the embryo development. In terms of the amount of fragmentation, based on the modified Veeck’s criteria, 36 of 54 ZP-free 3PN embryos (66.7%) showed less than 20% of the volume in fragments compared to the total volume of cytoplasm at the first cleavage (Grade 1 and 2), 14 (25.9%) showed 20-40% fragments (Grade 3), and only 4 (7.4%) showed > 40% fragments (Grade 4). These results suggested that the rate of fragmentation was decreased by ZP removal before the first cleavage. This study revealed that the ZP is not always necessary for normal development after the pronuclear stage because the ZP-Free embryos studied herein developed normally, maintained their cell adhesion well, and showed a decreased rate of fragmentation.

AIUM Practice Parameter for the Performance of Sonohysterography and Hysterosalpingo-Contrast Sonography.

AIUM Practice Parameter for the Performance of Sonohysterography and Hysterosalpingo-Contrast Sonography.

Early prediction of live birth for assisted reproductive technology patients: a convenient and practical prediction model

Live birth is the most important concern for assisted reproductive technology (ART) patients. Therefore, in the medical reproductive centre, obstetricians often need to answer the following question: “What are the chances that I will have a healthy baby after ART treatment?” To date, our obstetricians have no reference on which to base the answer to this question. Our research aimed to solve this problem by establishing prediction models of live birth for ART patients. Between January 1, 2010, and May 1, 2017, we conducted a retrospective cohort study of women undergoing ART treatment at the Reproductive Medicine Centre, Xiangya Hospital of Central South University, Hunan, China. The birth of at least one live-born baby per initiated cycle or embryo transfer procedure was defined as a live birth, and all other pregnancy outcomes were classified as no live birth. A live birth prediction model was established by stepwise multivariate logistic regression. All eligible subjects were randomly allocated to two groups: group 1 (80% of subjects) for the establishment of the prediction models and group 2 (20% of subjects) for the validation of the established prediction models. The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of each prediction model at different cut-off values were calculated. The prediction model of live birth included nine variables. The area under the ROC curve was 0.743 in the validation group. The sensitivity, specificity, PPV, and NPV of the established model ranged from 97.9–24.8%, 7.2–96.3%, 44.8–83.8% and 81.7–62.5%, respectively, at different cut-off values. A stable, reliable, convenient, and satisfactory prediction model for live birth by ART patients was established and validated, and this model could be a useful tool for obstetricians to predict the live rate of ART patients. Meanwhile, it is also a reference for obstetricians to create good conditions for infertility patients in preparation for pregnancy.

Dual trigger in normally-responding assisted reproductive technology patients increases the number of top-quality embryos.

ObjectiveThe feasibility of a gonadotropin-releasing hormone agonist (GnRHa) trigger in normal responders is still a matter of debate. The aim of this study was to compare the number of mature oocytes, the number of good-quality embryos, and the live birth rate in normal responders triggered by GnRHa alone, GnRHa and human chorionic gonadotropin (hCG; a dual trigger), and hCG alone.MethodsA retrospective cohort study was conducted at the infertility clinic of a university hospital. Data from 200 normal responders who underwent controlled ovarian hyperstimulation and intracytoplasmic sperm injection with a GnRH antagonist protocol between January 2016 and January 2017 were reviewed. The first study group consisted of patients with cycles triggered by GnRHa alone. The second study group consisted of patients with cycles triggered by both GnRHa and low-dose hCG (a dual trigger). The control group consisted of patients with cycles triggered by hCG alone.ResultsThe groups were comparable in terms of demographics and cycle characteristics. The numbers of total oocytes retrieved and metaphase II oocytes were similar between the groups. The total numbers of top-quality embryos were 3.2±2.9 in the GnRHa group, 4.4±3.2 in the dual-trigger group, and 2.9±2.1 in the hCG group (p=0.014). The live birth rates were 21.4%, 30.5%, and 28.2% in those groups, respectively (p=0.126).ConclusionIn normal responders, a dual-trigger approach appears superior to an hCG trigger alone with regard to the number of top-quality embryos produced. However, no clinical benefit was apparent in terms of live birth rates.

Результаты программ вспомогательных репродуктивных технологий у пациенток с персистенцией антифосфолипидных антител

Результаты программ вспомогательных репродуктивных технологий у пациенток с персистенцией антифосфолипидных антител

A novel zona-free culture system for severe cytoplasmic fragmentation cases: a pilot study using 3PN embryos and time-lapse cinematography

A study in 2017 observed perivitelline threads in more than 50% of cleavage-stage human embryos using time-lapse imaging, and the rate of cytoplasmic fragmentation (at the first cleavage) was significantly decreased in embryos without perivitelline threads (P < 0.001). While it is proposed that perivitelline threads play an important role in crosslinking the cumulus cells and oocyte during maturation, the mechanism underlying such a role remains unclear. It is also unknown whether the threads still function in mature MII oocytes. Therefore, in this study, zona pellucida of abnormally-fertilized oocytes which were donated by patients was removed at pronuclear stage. Those zona-free oocytes were observed in time-lapse culturing system in order to examine developmental morphology. Prospective study. This study used 57 abnormally fertilized (3PN) embryos (cIVF: n = 51, ICSI: n = 6) donated by assisted reproduction technology patients in our clinic with informed consent since 2017. After confirming the three pronuclei, we removed the ZP from each 3PN embryo using a laser, and the resultant zona-free embryos were cultured and observed in an incubator equipped with a time-lapse imaging system. For ZP removal, 3PN embryos were placed in drops of 0.125M sucrose-containing HEPES media that had been covered with mineral oil and warmed to 37°C. Despite a small reduction in ooplasm size, half of the ZP was removed by laser （Saturn 5; Origio、Lykos; Hamilton Thorne). Subsequently, the ooplasms were completely separated from their ZPs by pipetting, and these zona-free 3PN embryos were cultured continuously for 5 days with time-lapse imaging. Of 58 zona-free embryos in total, 54 (94.7%) were cleaved, and there was no significant decrease in cleavage rate compared to 2PN embryos (98%) used routinely in our clinic. Furthermore, 28 of the 54 embryos (51.9%) developed to the morula stage after third cleavage, and 18 embryos (33.3%) formed a blastocoel and became blastocysts. Thus, removing the ZP before cleavage did not adversely affect the embryo development. In terms of the amount of fragmentation, based on the modified Veeck’s criteria, 36 of 54 zona-free 3PN embryos (66.7%) showed less than 20% of the volume in fragments compared to the total volume of cytoplasm at the first cleavage (Grade 1 and 2), 14 (25.9%) showed 20-40% fragments (Grade 3), and only 4 (7.4%) showed > 40% fragments (Grade 4). These results suggested that the rate of fragmentation was decreased by ZP removal before the first cleavage. This study revealed that the ZP is not always necessary for normal development after the pronuclear stage because the zona-free embryos studied herein developed normally, maintained their cell adhesion well, and showed a decreased rate of fragmentation. This innovative culture system might provide the major breakthrough needed for patients who have difficulty obtaining good-quality embryos.

Placenta previa and placental abruption after assisted reproductive technology in patients with endometriosis: a systematic review and meta-analysis.

Recent evidence suggests that assisted reproductive technology (ART) increases the risk of adverse pregnancy outcomes, including placental disorders. Similarly, endometriosis resulted detrimental on placenta previa. However, up to 50% of women with endometriosis suffer from infertility, thus requiring ART. The aim of our metanalysis is to compare women with and without endometriosis undergoing ART in terms of placenta disorders events, to establish if ART itself or endometriosis, as an indication to ART, increases the risk of placenta previa. Literature searches were conducted in January 2018 using electronic databases (PubMed, Medline, Scopus, Embase, Science Direct, and the Cochrane Library Scopus). Series comparing pregnancy outcome after ART in women with and without endometriosis were screened and data on placenta previa and placental abruption were extracted. Five retrospective case-control studies met the inclusion criteria. The meta-analysis revealed that endometriosis is associated with an increased risk of placenta previa in pregnancies achieved through ART (OR 2.96 (95% CI 1.25-7.03); p = 0.01, I2 =69%, random-effect model). No differences in placental abruption incidence were found (OR 0.44 (95% CI 0.10-1.87); p = 0.26, I2 = 0%, fixed-effect model). Patients with endometriosis undergoing ART may have additional risk of placenta previa. Despite the inability to determine if endometriosis alone or endometriosis plus ART increase the risk, physicians should be aware of the potential additional risk that endometriosis patients undergoing ART harbor.

Prediction of mendelian disorders risk in assisted reproductive technology patients of middle eastern ethnicity based on detection of germline variants using an expanded preconception carrier genetic screening test

Prediction of mendelian disorders risk in assisted reproductive technology patients of middle eastern ethnicity based on detection of germline variants using an expanded preconception carrier genetic screening test

Use of micronized natural progesterone as preparation for assisted reproductive technologies in patients with uterine infertility factor

Use of micronized natural progesterone as preparation for assisted reproductive technologies in patients with uterine infertility factor

The relationship between the CYP19 alleles rs727479A/C, rs700518A/G, and rs700519C/T and pregnancy outcome after assisted reproductive technology in patients with polycystic ovary syndrome in a Chinese population: A population-based study

This study investigated the relationship between the CYP19 alleles, rs727479A/C, rs700518A/G, and rs700519C/T, and pregnancy outcome after assisted reproductive technology (ART) in patients with polycystic ovary syndrome (PCOS). Between January 2012 and September 2015, 293 PCOS patients undergoing ART were randomly selected for the study. According to pregnancy outcome after ART, the patients were assigned to pregnancy and non-pregnancy groups. CYP19 rs727479A/C, rs700518A/G and rs700519C/T genotypes were determined using the denaturing high-performance liquid chromatography (DHPLC) method. Haplotype frequencies of the CYP19 alleles rs727479A/C, rs700518A/G and rs700519C/T were estimated using the SHEsis platform. Logistic regression analysis was employed to analyze the factors influencing the pregnancy outcome after ART. The frequency of the AC + CC genotype of rs727479A/C was higher in the pregnancy group than in the non-pregnancy group. The frequency of the CT + TT genotype of rs700519A/G was also higher in the pregnancy group than in the non-pregnancy group. Haplotype analysis indicated that the AAC and AGT haplotypes both exhibited unfavorable influence on the pregnancy outcome after ART. The AAT and CGT haplotypes were favorable to the pregnancy outcome after ART. Logistic regression analysis suggested that the rs727479A/C AA genotype, the rs700519C/T CC genotype and body mass index (BMI) might exert unfavorable influence on the pregnancy outcome after ART for PCOS patients. These findings indicated that the CYP19 alleles rs727479A/C and rs700519C/T might be associated with the pregnancy outcome after ART in patients with PCOS.

Genetic risk of Klinefelter's syndrome in assisted reproductive technology.

AimThe main cause of Klinefelter's syndrome (KS) has been believed to be XY sperm. Accordingly, in the intracytoplasmic sperm injection treatment of patients with KS, hereditary KS has been a concern. Therefore, this study attempted to estimate the risk before and after the assisted reproductive technology.MethodsFirst, in order to validate the safety of the gametes of the patients with KS, a fluorescent in situ hybridization (FISH) analysis, following an original cell identification method using 1052 testicular gametes of 30 patients, was conducted. Second, in the resultant 45 babies, cytogenetic and physical–cognitive screening data were analyzed. In addition, a first attempt was conducted to investigate the origin of the extra X chromosome in 11 patients with KS by using 12 X‐chromosome short tandem repeat (STR) analysis in order to estimate the paternal contribution to KS.ResultsNo sex chromosomally abnormal gamete was found in the FISH analysis and the babies were normal genetically, physically, and cognitively. In the STR, it was confirmed that most (7/11) of the patients with KS resulted from the fertilization of the XX oocytes, suggesting that a baby with KS that had been reported previously might not have resulted from XY sperm.ConclusionThese results indicate that the risk of assisted reproductive technology for patients with KS is not as high as previously expected.