European journal of obstetrics, gynecology, and reproductive biology最新文献

{"title":"Corrigendum to “Comparison of effectiveness of the levonorgestrel intrauterine system and dienogest in the management of adenomyosis: A systematic review and meta-analysis” [Eur. J. Obstetr. Gynecol. Reprod. Biol. 300 (2024) 230–239]","authors":"R.E. Akhigbe , O.A. Afolabi , C.A. Adegbola , T.M. Akhigbe , P.A. Oyedokun , O.A. Afolabi","doi":"10.1016/j.ejogrb.2025.114024","DOIUrl":"10.1016/j.ejogrb.2025.114024","url":null,"abstract":"","PeriodicalId":11975,"journal":{"name":"European journal of obstetrics, gynecology, and reproductive biology","volume":"311 ","pages":"Article 114024"},"PeriodicalIF":2.1,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143922119","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of maternal age, markers of ultrasound, sFlt-1 and CA125 serum levels in the prediction of miscarriage: Study acronym: MIS-CARE (markers of ultrasound, immunologic and serum factors in the comprehensive analysis of the risks for early pregnancy loss)","authors":"Sasho Raykov ,&nbsp;Teodora Yordanova-Ignatova ,&nbsp;Petar N. Ignatov","doi":"10.1016/j.ejogrb.2025.114032","DOIUrl":"10.1016/j.ejogrb.2025.114032","url":null,"abstract":"<div><h3>Objective</h3><div>To evaluate the effectiveness of combining sociodemographic factors, circulating endothelial growth factor-1 (sFlt-1), cancer antigen 125 (CA125), placental growth factor (PLGF), along with ultrasound measurements of crown-rump length (CRL), and fetal heart rate (FHR) in assessing the risk of spontaneous abortion, and to develop a predictive model for miscarriage risk.</div></div><div><h3>Methods</h3><div>Between 2020 and 2023, we conducted a prospective observational study involving 235 pregnancies. Participants were divided into 2 groups – viable pregnancies and miscarriage before the 14th week of gestation. We recruited all patients at 6.0 to 6.6 weeks of gestation. At that point, demographic data was collected, and the first measurements of CRL and FHR were performed. Blood samples were taken for sFlt-1, PLGF, and CA125 analysis. Consequent visits were appointed every 2 weeks, which included a US scan and repeated blood serum tests. The outcome variable was early pregnancy loss, defined by the occurrence of spontaneous abortion (SA) before 14 weeks of gestation.</div></div><div><h3>Results</h3><div>Our study has shown that in cases with first-trimester pregnancy loss, the FHR and sFlt-1 were consistently decreased, while MA and CA125 were increased. We observed that a combination of MA, FHR, CRL, CA125, and sFlt-1 can reliably identify singleton pregnancies at risk of spontaneous abortion before 14 weeks of gestation. Each additional variable substantially improved the prediction characteristics, suggesting a good stepwise discriminatory performance of the overall model. The combination of all variables achieved a DR of 73,53 %, and more importantly – clinically feasible Positive Predictive Value (PPV) of 75,81 %, and high Negative Predictive Value (NPV = 94,75 %) levels.</div></div><div><h3>Conclusion</h3><div>Combining maternal age, FHR, CA125, and sFlt-1 can reliably identify singleton pregnancies at risk of spontaneous abortion before the 14th week of gestation. To our best knowledge, this is the first SA prediction model combining CA125 and sFlt-1 serum markers with well-established US modalities and demographic characteristics. External validation would be required before adopting the proposed prediction model in clinical practice.</div></div>","PeriodicalId":11975,"journal":{"name":"European journal of obstetrics, gynecology, and reproductive biology","volume":"311 ","pages":"Article 114032"},"PeriodicalIF":2.1,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143922118","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Long-term gastrointestinal morbidity among twins conceived by assisted reproductive technology","authors":"Amir Snir ,&nbsp;Tamar Wainstock ,&nbsp;Gil Gutvirtz ,&nbsp;Eyal Sheiner","doi":"10.1016/j.ejogrb.2025.114030","DOIUrl":"10.1016/j.ejogrb.2025.114030","url":null,"abstract":"<div><h3>Background</h3><div>Assisted reproductive technologies (ART) increased the incidence of multiple pregnancies, which has a negative effect on offspring health outcomes. The long-term health outcomes for singletons born after ART is well studied, however, studies on ART twin’s long-term morbidities are scarce.</div></div><div><h3>Objective</h3><div>This study aimed to investigate a possible association between ART resulting in twin pregnancy and long-term gastrointestinal (GI) morbidity of the offspring.</div></div><div><h3>Study design</h3><div>A population-based cohort study was performed in a tertiary medical center including twin deliveries born between 1991–2021. Long-term GI morbidities among twins conceived via ART including ovulation induction (OI) and in-vitro fertilization (IVF) were compared with twins born following spontaneous pregnancies. The diagnoses of GI morbidities were defined based on ICD-9 codes as recorded in community clinics and hospitalization files. A Kaplan–Meier survival curve was used to compare the cumulative incidence of GI morbidity among the study group and a Cox proportional hazards model was constructed to control for possible confounders.</div></div><div><h3>Results</h3><div>A total of 7,790 twins met the inclusion criteria: 2,076 twins (26.6 %) were conceived by ART. The total GI morbidity rate was significantly higher in twins conceived by ART as compared with twins from spontaneous pregnancies (34.9 % for IVF, 34.3 % for OI and 27.0 % for spontaneous twins, <em>p</em> &lt; 0.001). In addition, the cumulative incidence of GI morbidity over time was elevated for twins conceived by ART (log-rank test, <em>p</em> &lt; 0.001). The Cox model, controlling for confounders such as maternal age, gestational age, hypertensive disorders and diabetes mellitus found that using ART resulting in twin pregnancy is an independent risk factor for long-term GI morbidity of twin offspring (adjusted hazards ratio (aHR) for IVF vs. spontaneous = 1.42 (95 %CI 1.27–1.58, <em>p</em> &lt; 0.001; aHR for OI vs spontaneous = 1.38 (95 %CI 1.20–1.60, <em>p</em> &lt; 0.001).</div></div><div><h3>Conclusion</h3><div>In our cohort, twins conceived by ART exhibited a higher risk for long-term GI morbidity compared with spontaneously conceived twins. This association remained after adjustment for confounders although part of the increased risk may be mediated by perinatal complications such as prematurity and cesarean delivery.</div></div>","PeriodicalId":11975,"journal":{"name":"European journal of obstetrics, gynecology, and reproductive biology","volume":"311 ","pages":"Article 114030"},"PeriodicalIF":2.1,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143928393","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations between factors related to work and health and the experience of climacteric symptoms: A study among 52–56-year-old full-time working Finnish women before any treatment for the symptoms","authors":"Maija Lipasti ,&nbsp;Jaana Jalava-Broman ,&nbsp;Lauri Sillanmäki ,&nbsp;Juha Mäkinen ,&nbsp;Päivi Rautava","doi":"10.1016/j.ejogrb.2025.114031","DOIUrl":"10.1016/j.ejogrb.2025.114031","url":null,"abstract":"<div><h3>Objectives</h3><div>To examine associations between factors related to work and health and the experience of climacteric symptoms among middle-aged full-time working Finnish women before receiving any treatment for the symptoms.</div></div><div><h3>Methods</h3><div>A cross-sectional study among Finnish women aged 52–56 years who were full-time employed and had never used any treatment for the studied symptoms (<em>n</em> = 313). The experience of symptoms was assessed as the occurrence and severity of menopause-related symptoms that have a negative impact on women’s general wellbeing or wellbeing at work. These are hot flushes, sweats, sleeping problems, vaginal dryness and tenderness, loss of sexual desire, and depressive symptoms. The studied work- and health-related factors were the experience of the psychosocial work environment, health behaviors (body size, physical activity, and smoking habits), perceived stress and perceived social support.</div></div><div><h3>Results</h3><div>A high-strain job, smoking, increased levels of stress, and low levels of social support were associated with both the occurrence and severity of the studied symptoms. Women with these traits experienced symptoms more often and more severe than women without these traits.</div></div><div><h3>Conclusions</h3><div>Several factors may be in association with how a full-time working woman experience climacteric symptoms before receiving any treatment for them. Therefore, the health and wellbeing of middle-aged working women should be considered in all aspects including climacteric symptoms, both expressed and hidden, the work environment, health behaviors, perceived stress and perceived social support. Any healthcare professional should be aware of this. Furthermore, healthcare professionals and employers should work closely together to promote and improve women’s health and wellbeing.</div></div>","PeriodicalId":11975,"journal":{"name":"European journal of obstetrics, gynecology, and reproductive biology","volume":"311 ","pages":"Article 114031"},"PeriodicalIF":2.1,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143913031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal and fetal outcomes in pregnant women with mechanical heart valves: A tertiary center experience","authors":"Camilla Dionisi ,&nbsp;Sara Doroldi ,&nbsp;Giuliana Simonazzi ,&nbsp;Gianluigi Pilu ,&nbsp;Elisa Montaguti","doi":"10.1016/j.ejogrb.2025.114028","DOIUrl":"10.1016/j.ejogrb.2025.114028","url":null,"abstract":"<div><h3>Objective</h3><div>Patients with mechanical heart valves require lifelong anticoagulation to prevent thromboembolic complications. Pregnancy induces a hypercoagulable state, increasing the risk of those events. Although guidelines recommend anticoagulation with vitamin K antagonists (VKA), recent practice involves replacing VKA with low-molecular weight heparin (LMWH) to reduce fetal complications with an increase in maternal complications. This study aims to analyze outcomes in pregnant patients with mechanical heart valves anticoagulated with VKA or LMWH.</div></div><div><h3>Methods</h3><div>This was a retrospective case series of pregnant patients with mechanical heart valves referred to our tertiary care center from 2008 to 2024. Primary maternal outcomes were mortality and thromboembolic complications. Secondary outcomes were antepartum bleeding, cardiac events (arrhythmias, heart failure, non-thrombotic valvular dysfunction), postpartum hemorrhage. Fetal outcomes included live births and anticoagulant-related fetal anomalies, fetal intracranial bleeding, small for gestational age.</div></div><div><h3>Results</h3><div>Among the eleven patients included based on chart review, four (36 %) received VKA <em>peri</em>-conceptionally and LMWH during pregnancy, three (27 %) received VKA throughout pregnancy, three (27 %) started LMWH preconceptionally and one (9 %) received LMWH in the first trimester and switched to VKA at 14 weeks (sequential regimen). Thromboembolic complications occurred in two patients receiving LMWH: one experienced valvular thrombosis and one non-valvular thrombosis. Seven pregnancies resulted in live births, three in termination of pregnancy and one ended in missed abortion. One fetal subdural hematoma occurred in a patient on sequential therapy at 26 weeks of pregnancy. No other major fetal anomalies related to anticoagulants were reported.</div></div><div><h3>Conclusions</h3><div>Our findings align with existing literature, indicating a higher incidence of maternal complications in women with mechanical heart valves receiving LMWH. Limited data on patients treated with VKA during pregnancy preclude definitive conclusions regarding its safety.</div></div>","PeriodicalId":11975,"journal":{"name":"European journal of obstetrics, gynecology, and reproductive biology","volume":"311 ","pages":"Article 114028"},"PeriodicalIF":2.1,"publicationDate":"2025-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143913032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The effect of hot application with cherry seed belt on dysmenorrhoea: A randomized controlled trial","authors":"Demet Ceylan ,&nbsp;Mürüvvet Başer","doi":"10.1016/j.ejogrb.2025.114027","DOIUrl":"10.1016/j.ejogrb.2025.114027","url":null,"abstract":"<div><h3>Background</h3><div>This randomized controlled experimental study was conducted to determine the effect of application of a heated cherry seed belt on dysmenorrhoea. There is a need to test the effects of experimental studies worldwide that have conducted interventions to improve the quality of life of women with dysmenorrhoea.</div></div><div><h3>Methods</h3><div>This study included 55 female university students. Students were diagnosed with primary dysmenorrhoea by a specialist hospital physician. The students in the intervention group heated the cherry seed belt in a microwave oven for 3 min, and wrapped it around their lower abdomen for 30 min once per day for 3 days: 4 days before menstruation, on the first day of menstruation and on the last day of menstruation. They also took dexketoprofen trometamol 25 mg (an analgesic) once daily for 5 days, starting 2 days before menstruation, with an additional tablet on the last day of menstruation (total of six tablets per cycle). The control group received dexketoprofen trometamol 25 mg alone. All students recorded their pain scores in a dysmenorrhoea follow-up form, measured with a visual analogue scale, before and 30 min after the intervention for three menstrual cycles.</div></div><div><h3>Results</h3><div>Before application pain scores and menstruation symptom scale pain symptoms were significantly higher in the intervention group than in the control group (<em>p</em> &lt; 0.05). The intervention group stated that application of the heated cherry seed belt was effective for dysmenorrhoea. Average satisfaction was 7.3.</div></div><div><h3>Conclusions</h3><div>As a result, although there was no significant difference in terms of VAS scores between the intervention and control groups, except for one measurement, the intervention group was satisfied with the heated cherry seed belt for treatment of dysmenorrhoea.</div></div>","PeriodicalId":11975,"journal":{"name":"European journal of obstetrics, gynecology, and reproductive biology","volume":"311 ","pages":"Article 114027"},"PeriodicalIF":2.1,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143922117","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare case of 46,XY disorder of sex development with female phenotype: Case report and review of the literature","authors":"Miao Sun ,&nbsp;Maolin Liu ,&nbsp;Yan Liu ,&nbsp;Hao Yan ,&nbsp;Zhongyao Zeng ,&nbsp;Chengjun Yu ,&nbsp;Rong Han ,&nbsp;Shengde Wu","doi":"10.1016/j.ejogrb.2025.113986","DOIUrl":"10.1016/j.ejogrb.2025.113986","url":null,"abstract":"<div><div>Individuals exhibiting female genitalia and normal ovaries despite having a 46, XY karyotype represent an extremely rare condition of disorder of sex development (DSD) with unclear mechanism. We present a case of 17-year-old 46,XY phenotypic female with a chief complaint of primary amenorrhea. Physical examination revealed typical female genitalia, with B4P3 pubertal Tanner stage. Evaluation disclosed elevated levels of testosterone and anti-Müllerian hormone (AMH), ovaries with follicles and a small uterus. Our report offers insights for the clinical diagnosis and treatment for cases with 46, XY DSD manifesting a female phenotype.</div></div>","PeriodicalId":11975,"journal":{"name":"European journal of obstetrics, gynecology, and reproductive biology","volume":"311 ","pages":"Article 113986"},"PeriodicalIF":2.1,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143907864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adverse maternal outcomes in pregnancies with life-limiting fetal conditions managed expectantly: a cross-sectional study from a single tertiary fetal medicine centre in UK","authors":"Man Ho Kwok ,&nbsp;Paola Quaresima ,&nbsp;Fabiana Interlandi ,&nbsp;Tunay Efeturk ,&nbsp;Sarah Bower ,&nbsp;Stamatina Iliodromiti ,&nbsp;Elena Greco","doi":"10.1016/j.ejogrb.2025.114021","DOIUrl":"10.1016/j.ejogrb.2025.114021","url":null,"abstract":"<div><h3>Objectives</h3><div>This study aimed to (1) report adverse maternal outcomes in pregnancies complicated by life-limiting fetal conditions managed expectantly in a UK tertiary Fetal Medicine Unit; (2) assess whether specific life-limiting fetal conditions categories increase maternal complication risks; and (3) compare risks with the general population.</div></div><div><h3>Design</h3><div>Retrospective, cross-sectional study (2016–2023).</div></div><div><h3>Methods</h3><div>Life-limiting fetal conditions were categorized by organ system or chromosomal/genetic defect. Ultrasound findings affecting maternal outcomes were recorded. Outcomes included hypertensive disorders of pregnancy, preterm birth &lt;37 weeks, gestational diabetes mellitus (GDM), caesarean sections, and postpartum haemorrhage (PPH). Frequencies of maternal complications were compared across life-limiting fetal conditions categories and with controls delivering structurally normal, singleton infants.</div></div><div><h3>Results</h3><div>Of 151 life-limiting fetal conditions pregnancies, 78 underwent medical termination, 59 were managed expectantly, and 14 were lost to follow-up. Among expectantly managed pregnancies, 49 % experienced preterm birth, 24 % had PPH, 14 % developed GDM, and 5 % had hypertension. Caesarean occurred in 13.6 % of cases. Hypertension was exclusive to aneuploidy life-limiting fetal conditions, while 79 % of preterm births were associated with amniotic fluid anomalies. Preterm birth risk was significantly higher in life-limiting fetal conditions pregnancies versus controls (49 % vs. 11 %; P &lt; 0.0001; aOR 8.4; 95 % CI: 4.43–15.77).</div></div><div><h3>Conclusions</h3><div>Life-limiting fetal conditions pregnancies carry higher risks of preterm birth, particularly with amniotic fluid abnormalities, and hypertension is more common in aneuploidy cases. Maternal interventions for fetal reasons remain frequent despite multidisciplinary care.</div></div>","PeriodicalId":11975,"journal":{"name":"European journal of obstetrics, gynecology, and reproductive biology","volume":"311 ","pages":"Article 114021"},"PeriodicalIF":2.1,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143918400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is gestational trophoblastic neoplasia more common among women with recurrent hydatidiform moles and biallelic NLRP7 mutations? a 17-years prospective study from India","authors":"Rashmi Bagga ,&nbsp;Tanvi Katoch ,&nbsp;Radhika Srinivasan ,&nbsp;G.R.V. Prasad ,&nbsp;Vanita Suri ,&nbsp;Pradip Kumar Saha ,&nbsp;Rima Slim","doi":"10.1016/j.ejogrb.2025.114022","DOIUrl":"10.1016/j.ejogrb.2025.114022","url":null,"abstract":"<div><h3>Objective</h3><div>Recurrent hydatidiform moles (RHM) is a rare entity defined by the occurrence of two or more hydatidiform moles (HM) in a woman. We present data of women with RHM from a tertiary care institute in North India with respect to the incidence of Gestational Trophoblastic Neoplasia (GTN), subsequent reproductive outcome and genetic analysis in this cohort.</div></div><div><h3>Methods</h3><div>Women who presented with RHM and no prior live birth were enrolled from 2005 to 2022 and analysed for the presence of pathogenic or likely pathogenic (P/LP) variants in genes responsible for RHM. They were followed-up for occurrence of post-molar GTN as per FIGO and WHO guidelines, and subsequent reproductive outcomes.</div></div><div><h3>Results</h3><div>Of the 23 women with RHM, 22 (95.6 %) had biallelic P/LP variants in three genes, 20 in <em>NLRP7</em> (87 %), one in <em>KHDC3L</em> (4 %), and one in <em>TOP6BL</em> (4 %). Of the 20 women with <em>NLRP7</em> variants, 10 (50 %) developed GTN, mostly low-risk, which is approximately 2 to 3 times higher than the rate of GTN among women with sporadic HM at similar ages. Three of these women had recurrent GTN. Among the 22 women with biallelic P/LP variants, only one had a spontaneous live birth, and four underwent IVF with donated ova, of whom three had live births. Only one woman was negative for recessive causative variants in the known genes or any novel gene and she subsequently had two spontaneous live births.</div></div><div><h3>Conclusion</h3><div>Our data indicate a high incidence of biallelic P/LP <em>NLRP7</em> variants among Indian women with RHM and no live birth. These women appeared to be at a higher risk for developing GTN and had a very low chance of a spontaneous live birth, and these two concerns may be mitigated by avoiding a spontaneous pregnancy and having donor ovum IVF. All women with RHM should have genetic testing and counseling specifically due to their higher risk of GTN.</div></div>","PeriodicalId":11975,"journal":{"name":"European journal of obstetrics, gynecology, and reproductive biology","volume":"311 ","pages":"Article 114022"},"PeriodicalIF":2.1,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143899584","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal diagnosis and molecular cytogenetic analyses of a rare 17q12 microdeletion and 17q11.2 microduplication family with normal phenotype","authors":"Weihua Tian ,&nbsp;Qi Xia ,&nbsp;Xian He ,&nbsp;Pei Leng","doi":"10.1016/j.ejogrb.2025.114023","DOIUrl":"10.1016/j.ejogrb.2025.114023","url":null,"abstract":"<div><h3>Background</h3><div>Copy number variants (CNVs) are an important source of normal and pathogenic genome variations. Microdeletion of chromosome 17q12 results in structural or functional abnormalities in the kidney and urethra, type 5 diabetes (MODY5), and neurodevelopmental or neuropsychiatric disorders. Microduplication of 17q11.2 are less well-characterized but have been associated with variable clinical presentations, including autism spectrum disorder (ASD), developmental delay, and mild dysmorphic features.</div><div>Case presentation: In this research, a 29-year-old woman (gravida 1, para 0) underwent amniocentesis at 22 weeks’ gestation following the detection of bilateral hyperechogenic fetal kidneys on prenatal ultrasound. Notably, her husband has a medical history of congenital ichthyosis type 10, a genetic condition that warranted further genetic investigation.</div></div><div><h3>Results</h3><div>Copy number variation sequencing (CNV-seq) from this family revealed a 1.46-Mb microdeletion on chromosome 17q12 and a 640-kb microduplication on chromosome 17q11.2 of the fetus, a 640-kb microduplication on chromosome 17q11.2 of the father. Trio whole-exome sequencing (WES) analysis revealed that the father carried compound heterozygous mutations in the pathogenic gene associated with congenital ichthyosis type 10, while the fetus was identified as a heterozygous carrier of one of these mutations.</div></div><div><h3>Conclusion</h3><div>We provide a detailed description of the phenotype in a rare family with 17q12 microdeletion, 17q11.2microduplication and congenital ichthyosis type 10. Combination of karyotype analysis, CNV-seq, WES, prenatal ultrasound and genetic counselling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications and pathogenic gene variants.</div></div>","PeriodicalId":11975,"journal":{"name":"European journal of obstetrics, gynecology, and reproductive biology","volume":"311 ","pages":"Article 114023"},"PeriodicalIF":2.1,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143894491","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}