Journal of Reproduction and Infertility最新文献

{"title":"Estimation of Serum and Seminal Plasma Levels of Glactin-1 in Non-Obstructive Azoospermia Cases and Their Correlations with the Rate of Sperm Retrieval: A Comparative Prospective Study.","authors":"Sameh Fayek GamalEl Din,&nbsp;Khadiga Abougabal,&nbsp;Hany Mohammed Saad,&nbsp;Mohamed Shokr Mohamed,&nbsp;Amira Mahmoud Mohamed Ali,&nbsp;Ahmed Abo Sief","doi":"10.18502/jri.v23i4.10810","DOIUrl":"https://doi.org/10.18502/jri.v23i4.10810","url":null,"abstract":"<p><strong>Background: </strong>Remarkably, the current study is one of the first to deploy galectin-1 (Gal-1) in determining the degree of impairment of spermatogenesis among cases with non-obstructive azoospermia (NOA) as well as utilizing it as a biomarker to predict the rate of sperm retrieval in these patients. The purpose of the study was to evaluate the seminal plasma and serum levels of Gal-1 in NOA patients as well as their correlations with Johnsen's tubular biopsy scoring (JTBS).</p><p><strong>Methods: </strong>The current case control study included totally 48 patients with NOA whose ages ranged from 24 to 46 years old and 50 age matched healthy controls. Gal-1 levels were measured in both seminal plasma and serum of all subjects by the enzyme-linked immunosorbent assay (ELISA).</p><p><strong>Results: </strong>A significant negative correlation between seminal plasma levels of Gal-1 and JTBS was detected (r= -0.281, p=0.048) in the NOA cases. Interestingly, the receiver operating characteristic (ROC) curve had demonstrated that the cutoff value of seminal plasma levels of Gal-1 in determining azoospermia was >0.735 <i>ng/ml</i> and the area under the curve (AUC) was 0.858. The sensitivity, specificity, positive predictive, and negative predictive values for seminal plasma levels of Gal-1 were 76, 92, 90.5, and 79.3, respectively. In addition, sensitivity, specificity, positive predictive, and negative predictive values for serum levels of Gal-1 were 38, 66, 52.8, and 51.6, respectively.</p><p><strong>Conclusion: </strong>Seminal plasma levels of Gal-1 are higher in NOA men versus healthy controls. Interestingly, negative correlation of seminal plasma levels of Gal-1 with JTBS was determined. Thus, it can be used as a good predictor for NOA cases.</p>","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"257-263"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/d1/c1/JRI-23-257.PMC9674467.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40711984","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Diagnostic Accuracy of Galectin-9 for Diagnosis of Endometriosis in Comparison with Laparoscopy.","authors":"Sahar Jarollahi, Shahla Chaichian, Ali Jarollahi, Roya Hajmohammadi, Reza Mashayekhi, Fereshteh Shahmohammadi, Mohammad Eslamivaghar, Ziba Ghasemi","doi":"10.18502/jri.v23i4.10812","DOIUrl":"10.18502/jri.v23i4.10812","url":null,"abstract":"<p><strong>Background: </strong>Endometriosis is a common devastating gynecological disease with severe complications. Researches on noninvasive diagnostic tests with acceptable accuracy are still ongoing. The purpose of the present study was to evaluate the diagnostic value of serum Galectin-9 (Gal-9) level in comparison with laparoscopic results in endometriosis patients.</p><p><strong>Methods: </strong>Sixty-one patients, referred to Booali, Rasool-e-Akram, and Pars Hospitals affiliated to Islamic Azad University of Medical Sciences, were recruited. Patients laparoscopically diagnosed with endometriosis were assigned to the case (n=32) and who diagnosed with other diseases were assigned to the control group (n=29). In general, 56 patients (30 in case and 26 in control group) completed the study. The serum level of Galectin-9 was measured using ELISA method before laparoscopy and was compared between the groups. Next, categorical variables were compared using Chi square and quantitative variables using independent samples t- test or Mann-Whitney U test. The Gal-9 cut-off was calculated using the Youden's index and ROC curve; then, sensitivity, specificity, positive and negative predictive value, and positive and negative likelihood ratio of Gal-9 were reported. The p<0.05 were considered statistically significant.</p><p><strong>Results: </strong>Mean serum level of Galectin-9 was 669.3±416.50 <i>pg/ml</i> in the case group and 265.42±492.30 <i>pg/ml</i> in the control group (p=0.001). Considering a cut-off value of 138 <i>pg/ml</i>, Galectin-9 had a sensitivity of 100% and specificity of 88.46% for diagnosis of endometriosis (p<0.001).</p><p><strong>Conclusion: </strong>Galectin-9 measurement is helpful in diagnosis of endometriosis. Future studies are recommended for investigating the generalizability of these results.</p>","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"271-278"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e5/79/JRI-23-271.PMC9674464.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40711980","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Apparent Homozygosity for a gr/gr AZFc Deletion in A 47,XYY Man with Oligozoospermia and Secondary Infertility.","authors":"David J Bunyan,&nbsp;Mili Saran,&nbsp;James I Hobbs,&nbsp;David J Anderson,&nbsp;Philippa J Duncan-Flavell,&nbsp;Rachel J Howarth,&nbsp;Jonathan L A Callaway,&nbsp;James N MacPherson","doi":"10.18502/jri.v23i4.10816","DOIUrl":"https://doi.org/10.18502/jri.v23i4.10816","url":null,"abstract":"<p><strong>Background: </strong>Approximately 1 in 1000 men have a 47,XYY karyotype. Previous publications have presented cases of infertile XYY men and have suggested that the additional Y chromosome may cause disrupted meiosis leading to sperm apoptosis. The purpose of the current study was to determine whether XYY men are over-represented in infertility cohorts.</p><p><strong>Methods: </strong>In this paper, an ongoing infertility cohort was evaluated for Y chromosome microdeletions using the MLPA technique and the data from the first 2000 referrals were recorded. Moreover, the MLPA technique detected 47,XYY karyotypes.</p><p><strong>Results: </strong>Four XYY individuals were identified within the cohort. One of the four XYY men was shown to have an apparent gr/gr partial AZFc deletion on both Y chromosomes while Sertoli cell only syndrome was detected in another case. The other two cases (out of 2000) might, therefore, represent an incidental finding.</p><p><strong>Conclusion: </strong>The gr/gr deletion is not detectable by the multiplex PCR method; therefore, there might be additional explanations for the fertility problems of infertile XYY men reported in previously published articles. It seems that among other cases, their XYY karyotype may be coincidental, rather than causative of their fertility issues.</p>","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"296-302"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/46/50/JRI-23-296.PMC9674462.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40711982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Testicular Sperm Extraction and Intracytoplasmic Sperm Injection in Management of Obstructive Azoospermia: A Two-Year Multicenter Review in Ghana.","authors":"Promise E Sefogah,&nbsp;Alim Swarray-Deen,&nbsp;Edem K Hiadzi,&nbsp;Rudolph K Adageba,&nbsp;Nana Essuman Oduro,&nbsp;Hanson G Nuamah,&nbsp;Mercy A Nuamah","doi":"10.18502/jri.v23i4.10811","DOIUrl":"https://doi.org/10.18502/jri.v23i4.10811","url":null,"abstract":"<p><strong>Background: </strong>The objective of this study was to evaluate treatment outcomes and assess predictors of clinical pregnancy in obstructive azoospermia cases treated with testicular sperm extraction (TESE) and intracytoplasmic sperm injection (ICSI) in Ghana.</p><p><strong>Methods: </strong>This study was a retrospective study conducted on 67 men seeking treatment for obstructive azoospermia at two study sites in Ghana from January 2018 to December 2019. First, archived data were reviewed and treatment outcomes of cases of obstructive azoospermia from the hospital records were evaluated. Infertile men who met the inclusion criteria were recruited. Descriptive data were expressed in the form of frequencies and percentages. The dependent and independent variables were analyzed using multiple logistic regression and reported as odds ratios (ORs). The confidence interval (CI) was set at 95% and a p-value <0.05 was considered significant.</p><p><strong>Results: </strong>The mean age of male participants was 42.43±9.11 years (mean±SD) while the mean age of their partners was 32.89±5.73 years (mean±SD). The average duration of infertility before intervention was 5.01±3.60 years (mean±SD). Successful pregnancy was observed in 52.2% (35/67) of the participants. After adjusting for confounders, the rate of a successful clinical pregnancy was 0.07 lower for every additional year increase in the male's age [AOR=0.93 (95%CI=0.87-0.99), p=0.02].</p><p><strong>Conclusion: </strong>Overall the rate of clinical pregnancy following TESE/ICSI from our study was 52.2%. A man's age was a strong predictor of successful clinical pregnancy among couples treated with TESE-ICSI for obstructive azoospermia in Ghana.</p>","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"264-270"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/55/2d/JRI-23-264.PMC9674459.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40713020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Effects of Preimplantation Genetic Testing for Aneuploidy (PGT-A) on Patient-Important Outcomes in Embryo Transfer Cases: A Meta-Analysis.","authors":"Luis H Sordia-Hernandez,&nbsp;Felipe A Morales-Martinez,&nbsp;Fernando Díaz González-Colmenero,&nbsp;Andrea Flores-Rodriguez,&nbsp;Paloma C Leyva-Camacho,&nbsp;Maria Ofelia Sordia-Piñeyro,&nbsp;Otto H Valdés-Martínez,&nbsp;Selene M García-Luna,&nbsp;René Rodríguez-Guajardo,&nbsp;Luis H Sordia-Piñeyro","doi":"10.18502/jri.v23i4.10808","DOIUrl":"https://doi.org/10.18502/jri.v23i4.10808","url":null,"abstract":"<p><strong>Background: </strong>The aim of this study was to evaluate the effect of preimplantation genetic testing for aneuploidy (PGT-A) on patient-important reproductive outcomes after in vitro fertilization (IVF).</p><p><strong>Methods: </strong>Randomized and non-randomized studies have been sought in Ovid, MEDLINE, EMBASE, Web of Science, Scopus, and Cochrane Central Register of Controlled Trials since each database's inception through May 2021. Main keywords used for the search strategy included \"Embryo transfer\", \"In vitro fertilization\", \"DNA sequencing\", and \"Comparative genome hybridization\". Studies were screened independently and in duplicate.</p><p><strong>Results: </strong>Ten studies were finally analyzed, representing a total of 2630 embryo transfers. The pooled OR for live birth rates were 1.45 (95%CI 0.24-8.78, I² 96%) and 1.66 (95%PI 0.15-18.01, 95%CI 0.98-2.83, I² 81%) derived from the NRSIs and the RCTs, respectively, in which the miscarriage rate were 1.25 (95%CI 0.19-8.33, I² 70%) and 0.57 (95%PI 0.06-5.34, 95%CI 0.27-1.21, I² 53%), and clinical pregnancy rates were 3.08 (95%CI 2.22-4.29, I² 0%) and 1.43 (95%PI 0.38-5.42, 95%CI 0.96-2.13, I² 68%). Influence analyses showed a greater treatment effect when excluding studies without patients at advanced maternal age.</p><p><strong>Conclusion: </strong>There seems to be no significant difference in reproductive outcomes when using PGT-A in the general population; however, the procedure seems advantageous for patients at advanced maternal age. Nevertheless, this warrants caution when recommending the procedure to all couples seeking ART, as the current possible benefits may not justify the additional costs for all groups of patients.</p>","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"231-246"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1b/8c/JRI-23-231.PMC9674466.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40713021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Frequency, Risk Factors, and Pregnancy Outcomes in Cases with Placenta Accreta Spectrum Disorder: A Case-Control Study.","authors":"Mitra Tadayon,&nbsp;Nahid Javadifar,&nbsp;Maryam Dastoorpoor,&nbsp;Nahid Shahbazian","doi":"10.18502/jri.v23i4.10814","DOIUrl":"https://doi.org/10.18502/jri.v23i4.10814","url":null,"abstract":"<p><strong>Background: </strong>Placenta accreta spectrum (PAS) disorder is an important life-threatening problem. The purpose of the current study was to determine the frequency, risk factors, and pregnancy outcomes of PAS in our population.</p><p><strong>Methods: </strong>This is a case-control study using the data from a main tertiary referral university hospital in Ahvaz, southwest of Iran. The sample included 187 cases diagnosed with placenta accreta spectrum from 2015 to 2019 and 552 controls without PAS. A multivariable logistic regression model was used to find independent risk factors with 95% confidence interval. Pregnancy outcomes were evaluated using chi-square, t-test, and Mann-Whitney U test and p<0.05 were considered statistically significant.</p><p><strong>Results: </strong>The frequency of PAS during the study period was 3.7/1000 deliveries (0.37%). It was found that multiparity (≥3 deliveries, OR=2.05: 95%CI:1.21-3.47) and multigravidity (≥3 deliveries, OR=2.98: 95%CI:1.55-5.72), prior cesarean delivery (OR=52.55: 95%CI:19.73-139.96), and placenta previa (OR=27.48: 95%CI: 9.62-78.5) are the independent risk factors of PAS. Complications and morbidity associated with PAS included hysterectomy (60.4% <i>vs</i>. 0.7%, p<0.001), cystostomy (24.1% <i>vs</i>. 0.2%, p<0.001), the need for blood transfusion (73.7% <i>vs</i>. 1.4%, p<0.001), intensive care unit admission of mother (42.8% <i>vs</i>. 0.2%, p<0.001), duration of hospitalization (7.52±6.34 <i>vs</i>. 1.97±1.83, p<0.001), preterm birth <37 weeks (61.4% <i>vs</i>. 16.8%, p<0.001), and perinatal mortality (7.4% <i>vs</i>. 1.8%, p<0.001) which manifested statistically significant values.</p><p><strong>Conclusion: </strong>The frequency of PAS is similar to other populations. Prior cesarean delivery, placenta previa, multigravidity, and multiparity were independent risk factors and also perinatal hysterectomy and preterm birth were the most important complications.</p>","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"279-287"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/85/32/JRI-23-279.PMC9674460.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40711981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Monkeypox and Male Fertility: Is There Any Looming Danger?","authors":"Stefan S du Plessis,&nbsp;Walter D Cardona Maya,&nbsp;Temidayo S Omolaoye","doi":"10.18502/jri.v23i4.10819","DOIUrl":"https://doi.org/10.18502/jri.v23i4.10819","url":null,"abstract":"The Article Abstract is not Available.","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"314-317"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/f2/21/JRI-23-314.PMC9674461.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40711985","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Health Problems and Financial Burdens in Mislabeling IVF Failures as RIF.","authors":"Mohammad Reza Sadeghi","doi":"10.18502/jri.v23i4.10807","DOIUrl":"https://doi.org/10.18502/jri.v23i4.10807","url":null,"abstract":"The Article Abstract is not Available.","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"229-230"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/fe/04/JRI-23-229.PMC9674457.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40711979","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Appropriate Criteria in Patients Selection for Myomectomy in the Era of Minimally Invasive Surgery: A Case Report.","authors":"Sangam Jha, Sonia, Hemali Sinha, Upasna Sinha","doi":"10.18502/jri.v23i4.10818","DOIUrl":"10.18502/jri.v23i4.10818","url":null,"abstract":"<p><strong>Background: </strong>Myoma is the most common benign monoclonal neoplasm of the uterus with increased frequency during reproductive years of women.</p><p><strong>Case presentation: </strong>A twenty two year old female presented with abdomen lump, dysmenorrhoea, and heavy menstrual bleeding. Multiple myomas were diagnosed based on clinical and radiological findings. Abdominal myomectomy was performed and 75 myomas were enucleated followed by reconstruction of uterus. The second case was a 28 year old married woman presented with heavy menstrual bleeding and dysmenorrhoea. Ultrasound reported single posterior wall myoma of 8×6.3×5.8 <i>cm</i> in size. Laparoscopic myomectomy was performed. At follow-up visit, both cases were completely free of any symptoms.</p><p><strong>Conclusion: </strong>Myomectomy is a feasible and safe option and a uterine preserving surgery even in the presence of multiple myomas. Setting appropriate criteria in selecting patients for abdominal myomectomy rather than MIS is essential to avoid conversion and associated morbidity.</p>","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"310-313"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/27/1b/JRI-23-310.PMC9674465.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40713022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"An Incidental Detection of a Cryptic Complex Chromosome Rearrangement Found During NGS Based PGT-SR: A Case Report.","authors":"Leyla Özer,&nbsp;Suleyman Aktuna,&nbsp;Evrim Unsal,&nbsp;Aysun Baltaci,&nbsp;Volkan Baltaci","doi":"10.18502/jri.v23i4.10817","DOIUrl":"https://doi.org/10.18502/jri.v23i4.10817","url":null,"abstract":"<p><strong>Background: </strong>Complex chromosome rearrangements (CCRs) involve more than 2 chromosomal breakpoints and cause the exchanges of chromosomal segments between two or more chromosomes. The carriers of CCRs have normal phenotypes, but they have a higher risk of reproductive failure.</p><p><strong>Case presentation: </strong>This paper presents a couple with a history of two affected children, one spontaneous abortion, three in vitro fertilization (IVF) failures, and one healthy boy who were referred to our laboratory for preimplantation genetic testing (PGT). The wife had been evaluated as a carrier of 46,XX,t (2;6)(p21;p25); therefore, four IVF treatment cycles supported with PGT for this translocation had been performed in different IVF centers until the couple consulted our laboratory. Only one of these four IVF attempts had resulted in a healthy boy and this IVF study had been performed with fluorescence in situ hybridization (FISH)-based preimplantation genetic testing for structural chromosomal rearrangements (PGT-SR). The fifth IVF study with next-generation sequencing (NGS)-based PGT was performed by our laboratory and no healthy embryo was found in evaluated 6 embryos. During our NGS-based PGT, the cryptic involvement of 12p was firstly detected. FISH with chromosome 2,6, and 12 specific probes revealed that the mother was a carrier of a balanced 3-way translocation of 46,XX,t(2;6;12)(p21;p25;p13).</p><p><strong>Conclusion: </strong>NGS based PGT-SR method is an accurate method for detecting the copy number variations and is helpful to find out the cryptic CCRs.</p>","PeriodicalId":38826,"journal":{"name":"Journal of Reproduction and Infertility","volume":"23 4","pages":"303-309"},"PeriodicalIF":0.0,"publicationDate":"2022-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/da/06/JRI-23-303.PMC9674458.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40711983","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}