Nadine Scholten, Brigitte Strizek, Mi-Ran Okumu, Ibrahim Demirer, Jan Kössendrup, Lissa Haid-Schmallenberg, Malte Bäckmann, Arno Stöcker, Natalie Stevens, Anna Volkert
{"title":"Birthing positions and mother`s satisfaction with childbirth: a cross-sectional study on the relevance of self determination.","authors":"Nadine Scholten, Brigitte Strizek, Mi-Ran Okumu, Ibrahim Demirer, Jan Kössendrup, Lissa Haid-Schmallenberg, Malte Bäckmann, Arno Stöcker, Natalie Stevens, Anna Volkert","doi":"10.1007/s00404-024-07770-1","DOIUrl":"https://doi.org/10.1007/s00404-024-07770-1","url":null,"abstract":"<p><strong>Introduction: </strong>Considering the inconclusive evidence regarding the clinical benefits of specific birthing positions, emphasis has been placed on adhering to women's preferences during the second stage of labour. Therefore, the present study aimed to assess the association between birthing position, the freedom to choose a birth position during the second stage of labour, and women's subjective satisfaction with childbirth.</p><p><strong>Methods: </strong>We performed a cross-sectional survey of women 8 or 12 months after a vaginal birth in a hospital. The women were recruited via two cooperating health insurance companies. Multivariate analyses were conducted to assess the strength of the association between birthing position and maternal satisfaction with childbirth, with a particular focus on interactions with self-determination.</p><p><strong>Results: </strong>In total, the data from 761 women were analysed. The supine position was the most frequently reported birthing position in the second stage of labour at 77.5%. Notably, 39.0% and 30.5% of the women who gave birth in the dorsal and lateral supine positions, respectively, stated that the birth position was not chosen voluntarily. The regression models show a significant negative association between supine birthing position and satisfaction with childbirth, which is significantly related to self-determination. The most common reason for the adoption of a specific birthing position was instructions from medical staff.</p><p><strong>Discussion: </strong>The data provide insight into the perceived satisfaction with childbirth depending on the birthing position, whereby the relevance of self-determination is particularly evident. At the same time, self-determination is often not given, which is associated with reduced birth satisfaction.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Noa Ben Shoshan, Yossi Mizrachi, Liliya Tamayev, Tal Ben-Ari, Eran Weiner, Giulia Barda
{"title":"Does the timing of postprandial glucose monitoring affect the obstetric and neonatal outcomes in patients with gestational diabetes? A prospective study comparing 1 and 2-h postprandial monitoring.","authors":"Noa Ben Shoshan, Yossi Mizrachi, Liliya Tamayev, Tal Ben-Ari, Eran Weiner, Giulia Barda","doi":"10.1007/s00404-024-07803-9","DOIUrl":"https://doi.org/10.1007/s00404-024-07803-9","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to examine the obstetrical and neonatal outcomes in patients with gestational diabetes mellitus (GDM) who had postprandial glucose monitoring 1 vs. 2 h following meals.</p><p><strong>Study design: </strong>In this prospective cohort study, we included patients with GDM who were referred to our medical center between July 2019 and June 2021. Patients chose the timing of postprandial glucose monitoring based on their own preferences. Obstetrical and neonatal outcomes, as well as patient satisfaction, were compared between patients who performed postprandial glucose monitoring 1 and 2 h after meals (PPG1 vs. PPG2). The primary outcome was birth weight. The study was powered to detect a 250 g increase in birth weight.</p><p><strong>Results: </strong>Overall, 99 patients were included: 50 in the PPG1 group and 49 in the PPG2 group. Baseline characteristics were comparable between the groups. Neonates in the PPG1 and PPG2 groups had similar birth weights (3319 ± 355 vs. 3319 ± 520 g, respectively, p = 0.99). Glycemic control, mode of delivery, gestational age at delivery, and satisfaction rates were also similar between the study groups.</p><p><strong>Conclusion: </strong>In patients with GDM, performing1 vs. 2 h following meals resulted in similar obstetrical and neonatal outcomes and similar satisfaction rates. We therefore recommend counseling patients to choose either strategy based on their personal preference.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567387","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M L Frevert, J Bürgi, R Brun, T Hothorn, M Rösslein, N Ochsenbein-Kölble, C Haslinger, W Korte
{"title":"Correlation of factor XIII subunit A with factor XIII activity in a population of parturient women.","authors":"M L Frevert, J Bürgi, R Brun, T Hothorn, M Rösslein, N Ochsenbein-Kölble, C Haslinger, W Korte","doi":"10.1007/s00404-024-07799-2","DOIUrl":"https://doi.org/10.1007/s00404-024-07799-2","url":null,"abstract":"<p><strong>Background: </strong>The role of factor XIII in acute bleeding situations is gaining more and more importance. It has previously been shown that prepartum factor XIII activity has a significant impact on postpartum blood loss. Whether factor XIII antigen behaves in a similar manner is unknown. As postpartum hemorrhage is one of the leading causes of maternal morbidity and mortality worldwide and factor XIII antigen determination might be available more readily in some centers as compared to factor XIII activity, this is an important question to answer, especially in the emergency situation of a postpartum hemorrhage.</p><p><strong>Objective: </strong>To assess the correlation of prepartum factor XIII antigen with prepartum factor XIII activity and to evaluate the correlation between prepartum factor XIII antigen on measured postpartum blood loss.</p><p><strong>Methods: </strong>This is a secondary analysis of a prospective cohort study which analyzed the impact of prepartum blood coagulation factor XIII activity on postpartum blood loss in 1300 women at the University Hospital Zurich, Switzerland between October 2015 and November 2016 (\"PPH-1300 study\"). Blood loss was quantified using a previously validated technique. The association of factor XIII activity and factor XIII antigen was assessed by means of a Spearman rank correlation and differences were displayed using Bland-Altman plot and Passing-Bablok regression. The effect of the prepartum factor XIII antigen on blood loss was estimated by continuous outcome logistic regression.</p><p><strong>Results: </strong>Prepartum factor XIII activity significantly correlated with prepartum factor XIII antigen (Spearman rank correlation coefficient for prepartum values 0.89, p < 0.001 and postpartum values 0.902, p < 0.001). Elevated values of prepartum factor XIII antigen showed a trend toward lower measured postpartum blood loss.</p><p><strong>Conclusion: </strong>The correlation of factor XIII activity with factor XIII antigen (subunit A) in a large real-world sample as well as an association of prepartum factor XIII antigen and postpartum blood loss is observed. Factor XIII antigen determination, a highly automatable test, could be useful in emergency situations such as a PPH (as well as other bleeding situations) if the determination of factor XIII activity is not possible. To evaluate whether FXIII replenishment reduces blood loss is the focus of ongoing studies.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-11-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142567369","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A Rejaey, I Gottschalk, E C Weber, A Messling, J Hubertus, C Berg
{"title":"Favorable outcome after fetal swallowing of a Somatex® intrauterine shunt.","authors":"A Rejaey, I Gottschalk, E C Weber, A Messling, J Hubertus, C Berg","doi":"10.1007/s00404-024-07802-w","DOIUrl":"https://doi.org/10.1007/s00404-024-07802-w","url":null,"abstract":"<p><p>This report describes the ingestion of a dislodged Somatex Intrauterine Stent by the fetus. At 35 weeks one shunt was visualized in the fetal stomach, suggesting that the fetus had swallowed it. The shunt kept its position in the stomach until the last follow up scan at 37 weeks. At 38 weeks the patient went into spontaneous labor and vaginally delivered a boy weighting 3590 g. The first chest X-ray on the day of birth demonstrated the dislodged shunt in the duodenum while the other shunt drained the left kidney. The mother started breastfeeding. The x-ray on the second day of life was made after removal of the second shunt and the creation of a nephrostoma and demonstrated the dislodged shunt in the ileum. On the third day of life the shunt was found in the neonate's stool. The neonate was dismissed on day 7 with antibiotic prophylaxis. To our best knowledge this is the first report of an intrauterine ingestion of a Somatex Intrauterine Stent. It demonstrates that in the intrauterine period the shunt remains in the stomach and starts to pass the bowel after birth, probably prompted by breastfeeding. In our case the shunt was eventually excreted without any damage to the digestive system.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-11-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142563411","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M G Biersack, L L Volmer, C Geißler, J Fromme, S Fröhlich, K Pietzner, J Sehouli, M H Beck
{"title":"Informed consent in gynecological oncology: a JAGO/NOGGO survey on real-world practices in daily clinical routine.","authors":"M G Biersack, L L Volmer, C Geißler, J Fromme, S Fröhlich, K Pietzner, J Sehouli, M H Beck","doi":"10.1007/s00404-024-07776-9","DOIUrl":"https://doi.org/10.1007/s00404-024-07776-9","url":null,"abstract":"<p><strong>Purpose: </strong>Informed consent is a quintessential element of contemporary medicine, reflecting the fundamental right of patients to participate in decision-making regarding their health. Despite its critical importance, there is a lack of data on real-world practices regarding patient informed consent in the context of modern, high-pressure medical environments.</p><p><strong>Methods: </strong>We conducted a multinational multicentric survey from February 24, 2022, to September 14, 2022, investigating the practices and challenges surrounding informed consent in hospitals across Germany, Austria, and Switzerland with the use of a specifically developed questionnaire.</p><p><strong>Results: </strong>Drawing on over 200 responses from gynecologists, the survey shows a critical need for structured training in conducting informed consent discussions with over 80% of participants expressing interest in courses addressing this aspect. Notably, a considerable portion of the physicians (59.9%) reported conducting discussions on procedures they had never personally witnessed. Significant disparities between types of hospitals and professional groups were observed in the frequency of informed consent discussions, with limitations arising from factors such as time constraints, language barriers, and insufficient resources for patient education. Moreover, the psychological burden experienced by physicians after informed-consent discussions underscores the need for systemic changes to alleviate concerns regarding patient safety, legal repercussions, and patient satisfaction.</p><p><strong>Conclusion: </strong>This study serves as a call to action, emphasizing the need of enhancing resources and support for medical professionals to uphold the principles of empathic and comprehensive patient information and shared decision-making.</p><p><strong>Trial registry: </strong>DRKS00028295, 25.07.2024.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142562604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lisa Jung, Sarah Isabelle Huwer, Peter Jungmann, Markus Medl, Florin-Andrei Taran, Jakob Neubauer, Carolin Wilpert, Ingolf Juhasz-Böss, Carolin Müller
{"title":"Can Ki-67 serve as a suitable marker to indicate the necessity of staging diagnostics in cases of low-risk breast cancer?","authors":"Lisa Jung, Sarah Isabelle Huwer, Peter Jungmann, Markus Medl, Florin-Andrei Taran, Jakob Neubauer, Carolin Wilpert, Ingolf Juhasz-Böss, Carolin Müller","doi":"10.1007/s00404-024-07753-2","DOIUrl":"https://doi.org/10.1007/s00404-024-07753-2","url":null,"abstract":"<p><strong>Background: </strong>For many years, staging tests have not been routinely employed for low-risk early breast cancer (EBC). However, the role of Ki-67 in determining the need for staging tests in low-risk EBC remains unclear. Our study aimed to assess the number and types of staging diagnostics, additional imaging, false-positive results, and rate of distant metastases in low-risk EBC with low and high Ki-67 (< / ≥ 25%).</p><p><strong>Methods: </strong>This is a retrospective, single institution cohort study. All patients with newly diagnosed low-risk breast cancer at the University Medical Center in Freiburg in 2017 and 2021 were included. Low-risk was defined as clinical tumor stage T1/2, node negative (N0), hormone receptor positive, HER2 negative, asymptomatic EBC. Information on demographics, clinical and pathological characteristics, as well as number and type of performed staging diagnostics was obtained. Rate and type of additional imaging or follow-up diagnostics due to suspicious findings was analyzed. The patients were divided into two groups (Ki-67 < and ≥ 25%) and rates of distant metastases, performed staging diagnostics and false positive rates were compared.</p><p><strong>Results: </strong>A total of 189 patients with low-risk EBC were identified, with 54% (n = 102) having Ki-67 < 25% and 46% (n = 87) having Ki-67 ≥ 25%. Risk for distant metastases was 0% in Ki-67 < 25% and 1.1% in patients with Ki-67 ≥ 25% (p = 0.46). Due to suspicious findings in the initial staging diagnostic, additional imaging was required for 11.8% (n = 12) of patients with Ki-67 < 25% compared to 19.5% (n = 17) of patients with Ki-67 ≥ 25% (p = 0.16). False positive rates did not differ significantly between the two groups (7.6% in Ki-67 < 25% vs. 9.8% in Ki-67 ≥ 25%; p = 0.55).</p><p><strong>Conclusion: </strong>Distant metastases are rare in low-risk EBC. All in all, staging diagnostics should not be routinely employed in this patient population. Only patients with high Ki-67 developed distant metastases. In these cases, staging diagnostics may be discussed with the patient.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543360","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"A retrospective study on the effect of surgical approaches and uterine manipulators on the prognosis of cervical cancer.","authors":"Xinmeng Guo, Jiangnan Song, Shuang Tian, Weiping Li, Jinning Zhang, Yuanqing Yao","doi":"10.1007/s00404-024-07746-1","DOIUrl":"https://doi.org/10.1007/s00404-024-07746-1","url":null,"abstract":"<p><strong>Objective: </strong>Cervical cancer is a common gynecological malignancy. However, the optimal surgical approach and benefits of uterine manipulator use remain unclear in this context. This study aimed to compare patient outcomes among different surgical approaches including laparoscopic, combined vaginal and laparoscopic, abdominal, and robotic using the da Vinci surgical system. Moreover, we also aimed to examine the impact of uterine manipulator use in radical hysterectomy on the outcomes of patients with cervical cancer.</p><p><strong>Methods: </strong>This retrospective study included data from 848 patients with cervical cancer stage IA2-IIA2 that underwent a radical hysterectomy and pelvic lymphadenectomy at the Chinese PLA General Hospital between 2009 and 2019. Patient demographic and clinical characteristics, perioperative findings, and postoperative outcomes were examined.</p><p><strong>Results: </strong>Patient characteristics, including body mass index, age, FIGO stage, pathological type, and tumor differentiation status and size, were comparable. Five-year survival rates were comparable among the groups that underwent different types of surgery regardless of disease stage. Five-year survival rates were comparable between the groups that underwent surgery with and without the use of a uterine manipulator.</p><p><strong>Conclusions: </strong>All surgical approaches examined in this study had comparable efficacy and safety profiles. The use of uterine manipulators during radical hysterectomy for cervical cancer does not increase the risk of death.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Family planning after transplantation: sex- and organ-related differences in the perception of medical counseling and social challenges.","authors":"Nina Schirm, Lea Böhm, Tanja Zimmermann, Nadia Meyer, Frauke von Versen-Höynck","doi":"10.1007/s00404-024-07703-y","DOIUrl":"https://doi.org/10.1007/s00404-024-07703-y","url":null,"abstract":"<p><strong>Purpose: </strong>Transplant patients are increasingly of childbearing age. Organ-related health as well as pregnancy-related risks require a standardized approach to family planning counseling. The aim of this study was to explore sex- and organ-related counseling differences and expectations in family planning to improve counseling services and reduce risks after transplantation.</p><p><strong>Methods: </strong>The study was designed as a cross-sectional, multi-center cohort study. A total of 251 participants aged between 18 and 45 years with a visceral or thoracic transplant completed a questionnaire on their attitude toward family planning and experience with medical consultation.</p><p><strong>Results: </strong>More female than male participants had a desire to have children. Males believed their transplantation-related medication had an influence on their fertility, while women worried it could harm their child. Contraceptive counseling was negated by 43.6% of the women and 73.4% of the men. Medical advice regarding family planning was highly requested by both sexes. Women felt more influenced in their family planning than men. Female thoracic organ recipients worried about a pregnancy more than visceral organ recipients. Women showed great awareness for pregnancy-related risks with the majority wanting to plan a pregnancy beforehand.</p><p><strong>Conclusion: </strong>The findings revealed a lack of contraceptive counseling and a lack of family planning advice by physicians.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543363","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Does antenatal exercise shape labor and delivery outcomes?","authors":"Akanksha Chauhan, Anjali Gupta, Poonam Dhankher, Jagjit Singh Dalal, Nitika Jesingh, Savita Rani Singhal","doi":"10.1007/s00404-024-07801-x","DOIUrl":"https://doi.org/10.1007/s00404-024-07801-x","url":null,"abstract":"<p><strong>Purpose: </strong>Incorporating regular physical activity into the lifestyle of a pregnant woman offers numerous health benefits and prepares her effectively for labor. This study was conducted to determine the impact of antenatal exercise on labor, delivery and perinatal outcome.</p><p><strong>Methods: </strong>An interventional study was conducted including 200 women attending the antenatal clinic of Obstetrics and Gynaecology department of PGIMS Rohtak, India. The study subjects were randomly divided into two groups-exercise group and control group.</p><p><strong>Results: </strong>The demographic profile of both the groups was similar. A higher proportion of patients in control group required labor induction compared to exercise group (33% vs 16%, P = 0.002). The rate of vaginal delivery was significantly higher in exercise group than in control group (71% vs 56%, P = 0.027). Additionally, women in exercise group had fewer assisted vaginal deliveries than control group (7% vs 20%, P = 0.007). Rates of cesarean section were comparable between both groups (P = 0.736). The mean duration of labor was significantly shorter in exercise group compared to control group (428.69 ± 131.242 min vs 516.91 ± 143.105 min, P < 0.0001). Mean Visual Analog Scale (VAS) score for pain was 6.38 ± 1.94 in exercise group compared to 7.89 ± 1.49 in control group (P < 0.0001). No significant difference was observed between the groups in birth weight and APGAR score of neonates.</p><p><strong>Conclusion: </strong>A structured exercise program, practiced regularly during the antenatal period reduced the need for labor induction, shortened labor duration, increased the incidence of vaginal deliveries, and decreased pain perception during labor and delivery.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543361","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jie Wang, Jun Xing, Linjun Chen, Zhenyu Diao, Linlin He, Shanshan Wang, Fei Lin, Ningyuan Zhang
{"title":"The clinical application of affected-embryo-based SNP haplotype analysis for patients with de novo pathogenic mutations in PGT-M cycles.","authors":"Jie Wang, Jun Xing, Linjun Chen, Zhenyu Diao, Linlin He, Shanshan Wang, Fei Lin, Ningyuan Zhang","doi":"10.1007/s00404-024-07773-y","DOIUrl":"https://doi.org/10.1007/s00404-024-07773-y","url":null,"abstract":"<p><strong>Purpose: </strong>In preimplantation genetic testing for monogenic/single gene disorders (PGT-M) cycles, direct detection of the pathogenic mutation combined with indirect haplotype analysis are recommended to achieve accurate diagnosis. However, it poses a challenge to conduct haplotype analysis for patients carried de novo pathogenetic mutations or without no identified haplotype in families. Herein, the strategy of affected-embryo-based haplotype analysis was implemented in clinical practice to provide a convenient, economical and effective way for such patients.</p><p><strong>Materials and methods: </strong>Eight cases with de novo mutations were recruited. Six cases found the embryo-proband from biopsied blastocysts, and two case (case5 and 6) found them from developmental arrested embryos. A total of thirty-seven biopsied blastocysts from eight PGT-M cycles were performed direct detection and affected-embryo-based single nucleotide polymorphism (SNP) haplotype analyses.</p><p><strong>Results: </strong>Till now, five cases (case 1, 2, 3, 7, 8) had delivered healthy babies and one case (case6) achieved successful ongoing pregnancy. We reported for the first time to find proband from developmental arrested embryos to complete haplotype analyses when no carriers were found in biopsied ones in clinical practice.</p><p><strong>Conclusion: </strong>Our study further proves and expands the application of the double-checking strategy based on affected-embryo proband and allows patients with de novo mutations or lack positive family members to benefit from the strategy.</p>","PeriodicalId":8330,"journal":{"name":"Archives of Gynecology and Obstetrics","volume":null,"pages":null},"PeriodicalIF":2.1,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543364","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}