Fetal Diagnosis and Therapy最新文献

{"title":"Diagnosis and Treatment of Inherited Renal Tubular Dysgenesis Caused by ACE Gene Mutation: A Single-Center Experience.","authors":"Qian Xie, Zeliang Xu, Xiaosong Xu","doi":"10.1159/000545879","DOIUrl":"10.1159/000545879","url":null,"abstract":"<p><strong>Introduction: </strong>Autosomal recessive renal tubular dysgenesis (ARRTD) is a rare and severe condition, and current methods for early diagnosis and treatment of this disease remain unclear. Here, we describe 3 patients with ARRTD.</p><p><strong>Case presentation: </strong>The 3 cases come from three independent pedigrees and harbor completely different ACE gene mutation types. Two infants died of the disease shortly after birth despite treatment attempts, while one infant showed improvement with symptomatic therapies including blood pressure elevation, respiratory support, diuretics, and CRRT and was discharged. During the 27-month follow-up, this patient exhibited normal renal function and ultrasound findings.</p><p><strong>Conclusion: </strong>For fetuses with diagnosed ARRTD, symptomatic treatment for oligohydramnios and interventions to promote fetal maturation before preterm birth are important. Postnatally, critical management strategies include respiratory support, blood pressure stabilization, and renal support/replacement. With effective treatment, ARRTD patients have the potential to achieve long-term survival and normal renal function.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-6"},"PeriodicalIF":1.6,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144063139","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":"Cardiac Structural and Functional Assessment of Monochorionic Twin Pregnancies Complicated by Type II and Type III Selective Fetal Growth Restriction.","authors":"Jessian L Munoz, Betul Yilmaz Furtun, Cara Buskmiller, Magdalena Sanz Cortes, Roopali V Donepudi, Michael A Belfort, Ahmed A Nassr","doi":"10.1159/000545880","DOIUrl":"10.1159/000545880","url":null,"abstract":"<p><strong>Introduction: </strong>Selective fetal growth restriction (sFGR) complicates 10-15% of monochorionic twin gestations. Prior studies reported neonatal cardiac hypertrophy present in 25% of twins impacted by sFGR, most commonly the larger twin (80%). Our primary objective was to characterize fetal cardiac structural and functional echocardiogram findings in sFGR twins.</p><p><strong>Methods: </strong>A retrospective cohort analysis was performed of monochorionic twin pregnancies complicated by type II or type III sFGR managed and delivered at a single tertiary center from 2015 to 2023. Patients diagnosed with twin to twin transfusion syndrome, twin anemia-polycythemia sequence, or undergoing laser treatment for any indication were excluded. All twin pairs underwent fetal echocardiogram by board-certified pediatric cardiologists at our center. In cases of abnormal fetal echocardiograms, a pediatric echocardiogram was performed after birth. Clinically relevant data were obtained from electronic medical records. Right and left myocardial performance index (MPI) were calculated incorporating ejection, isovolumetric contraction, and isovolumetric relaxation times as well as combined cardiac output, cardiac hypertrophy, and tricuspid regurgitation.</p><p><strong>Results: </strong>During the study period, 35 pregnancies complicated by type II or type III sFGR were managed by our team. Two patients were excluded as they did not undergo fetal echocardiograms as planned. The remaining 33 twin pairs underwent echocardiogram analysis at 20 weeks ± 6 days on average. Compared to the sFGR fetuses, appropriate for gestational age (AGA) fetuses were more likely to have tricuspid regurgitation (TR, 37 vs. 9%, p = 0.02), right ventricular hypertrophy (RVH, 42 vs. 9%, p = 0.003), left ventricular hypertrophy (31 vs. 3%, p = 0.006), elevated right MPI (0.36 [0.26, 0.49] vs. 0.29 [0.24, 0.35], p = 0.03), and elevated left MPI (0.32 [0.29, 0.47] vs. 0.29 [0.25, 0.35], p = 0.02). No difference was noted in combined cardiac output (534 [483, 596] vs. 522 [447, 596], p = 0.41). At birth, 55% (6/11) of AGA fetuses with abnormal fetal echocardiograms had RVH and TR compared to 25% (1/4) of sFGR fetuses.</p><p><strong>Conclusion: </strong>In this cohort of expectantly managed monochorionic twins complicated by type II and type III sFGR, larger twins were noted to have several findings consistent with hemodynamic changes which could reflect cardiac overload in the prenatal period. In addition, these may persist during neonatal life. Further assessment of neonatal and pediatric outcomes is needed to determine the long-term implications of these sonographic findings.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-7"},"PeriodicalIF":1.6,"publicationDate":"2025-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143960434","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":"The Volume of Fluid Corresponding to Each Centimeter of Amniotic Fluid Index Changes throughout Pregnancy: A Prospective Cohort Observational Study.","authors":"Edgar Hernandez-Andrade, Kevin Magee, Donatella Gerulewicz-Vannini, Percy Pacora, Ramesha Papanna, Eric P Bergh, Jimmy Espinoza, Anthony Johnson","doi":"10.1159/000545784","DOIUrl":"10.1159/000545784","url":null,"abstract":"<p><strong>Introduction: </strong>The normal values of the amniotic fluid index (AFI) throughout pregnancy have been established as 5-24 cm. However, a similar AFI may correspond to a different AF volume at different gestational ages. The aim of this study was to calculate the amount of fluid corresponding to each cm of AFI when a known volume of fluid is infused into the uterine cavity.</p><p><strong>Methods: </strong>This was a secondary analysis of a prospective cohort observational study. Serial amnioinfusions (AIs) were performed between 10 and 34 weeks of gestation in 19 fetuses with anhydramnios due to severe renal damage. The AFI was measured just before and after AI, and the volume of fluid/AFI cm was estimated as infused fluid (mL)/AFI final-AFI initial. Mean and standard deviation per gestational week were obtained, and amniotic fluid volumes corresponding to AFIs of 5 cm, 18 cm, and 24 cm were calculated.</p><p><strong>Results: </strong>A total of 279 AIs were performed (median/case n = 15, range 3-22). The mean volume of fluid per cm of AFI at 20 weeks was 25.08 mL (SD 5.72 mL), 40.61 mL (SD 27.4 mL) at 30 weeks, and 34.64 mL (SD 14.8 mL) at 34 weeks. There was a 61% increment in AF fluid per AFI cm from 20 to 30 weeks of gestation, and a reduction of 14.7% between 30 and 34 weeks of gestation. Extrapolating these calculations, the volume of fluid corresponding to an AFI of 18 cm at 20 weeks was 451.4 mL, at 30 weeks 731.0 mL, and at 34 weeks, 623.5 mL.</p><p><strong>Conclusion: </strong>The volume of amniotic fluid per cm of AFI changes during gestation. The definition of poly or oligohydramnios based on the same AFI can vary up to 61% in fluid volume from 20 to 30 weeks of gestation.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-7"},"PeriodicalIF":1.6,"publicationDate":"2025-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143999340","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":"Monochorionic Monoamniotic Multiple Gestations with Twin-Twin Transfusion Syndrome: A Case Series of 6 Laser Surgery Patients and Management Considerations.","authors":"Jinnen Masri, Raphael C Sun, Sami R Chmait, Grace Hamadeh, Andrew H Chon","doi":"10.1159/000545505","DOIUrl":"10.1159/000545505","url":null,"abstract":"<p><strong>Introduction: </strong>Twin-twin transfusion syndrome (TTTS) is a rare occurrence in monochorionic monoamniotic (MCMA) multiple gestations. Clinical management remains challenging due to increased technical difficulty of selective laser photocoagulation of communicating vessels and limited data regarding outcomes after laser surgery. Our objective was to present the outcomes of MCMA multiple gestations with TTTS who underwent laser surgery.</p><p><strong>Methods: </strong>Retrospective study of all MCMA multiple gestations between 2006 and 2024 across two institutions treated with laser surgery for TTTS. Results are presented as median (range).</p><p><strong>Results: </strong>Out of 1,078 laser surgeries for TTTS, 6 (0.6%) were performed in MCMA gestations: 5 MCMA twins and 1 dichorionic diamniotic triplet. The gestational age (GA) at diagnosis was 19.5 (16.9-22.3) weeks. Quintero stage was II (n = 3) and III (n = 3). The placental cord insertion sites were proximal (<4 cm apart) in 2 (33%) cases. Despite increased technical difficulty, laser surgery was successfully completed in all cases. One case required more than 1 trocar entry to adequately evaluate the complex vascular equator. The GA at delivery was 27.2 (23.6-31.7) weeks. Indications for delivery included placental abruption (n = 2; 33%), fetal growth restriction (n = 2; 33%), chorioamnionitis (n = 1; 17%), and elective (n = 1; 17%). Dual 30-day survivorship occurred in 5 (83%) patients and dual demise occurred in 1 (17%) patient.</p><p><strong>Conclusion: </strong>Laser surgery for TTTS in MCMA multiple gestations is technically feasible. However, outcomes are guarded compared to monochorionic diamniotic twins. Additional studies are needed to investigate the optimal management of TTTS in monoamniotic multiple gestations.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-8"},"PeriodicalIF":1.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751808","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":"Risk Factors for Spontaneous Preterm Delivery in Monochorionic Diamniotic Pregnancies Undergoing Selective Fetal Reduction via Radiofrequency Ablation.","authors":"Shelly Soni, Juliana S Gebb, Christina Paidas Teefey, Julie S Moldenhauer, Nahla Khalek","doi":"10.1159/000545189","DOIUrl":"10.1159/000545189","url":null,"abstract":"<p><strong>Introduction: </strong>To identify risk factors for spontaneous preterm delivery (sPTD) before 32, 34, and 37 weeks in a cohort of monochorionic diamniotic (MCDA) twin pregnancies undergoing selective fetal reduction (SFR) using radiofrequency ablation (RFA).</p><p><strong>Methods: </strong>A single-center retrospective analysis of complex MCDA twin pregnancies managed with SFR via RFA between 2014 and 2023. Perioperative variables were compared between patients who had sPTD before and after 34 weeks and 37 weeks. We also compared variables for pregnancies that were delivered before and after 32 weeks. Correlation analysis between gestational age at SFR and gestational age at delivery was performed. A Kaplan-Meier survival analysis was created for time to 34 weeks grouped by different diagnostic indications and a log-rank test was performed.</p><p><strong>Results: </strong>In the study cohort, the total rate of preterm delivery was 52.0% of these 46.9% pregnancies delivering spontaneously. The rate of sPTD before 34 weeks was 27.1% and before 32 weeks was 19.4%. There was a significantly higher proportion of pregnancies undergoing RFA for the indication of TTTS that delivered before 34 weeks (43.5% vs. 22.6%, p = 0.01). Also, a greater number of pregnancies undergoing RFA for the indication of TTTS delivered before 37 weeks spontaneously (35.7% vs. 20.9%, p = 0.04). A subgroup analysis of sPTD before 32 weeks was performed. Preoperative cervical length was the only independent predictor for delivery before 32 weeks on multiple regression after controlling for confounders. Gestational age at procedure did not correlate with gestational age at delivery (p = 0.78). Kaplan-Meier curves showed that the proportion of pregnancies remaining undelivered from the time of RFA until 34 weeks' gestation was lower for the indication of TTTS.</p><p><strong>Conclusion: </strong>Preoperative indication of TTTS was associated with an increased risk of sPTD before 34 and 37 weeks in the MCDA twin population undergoing RFA. In contrast, preoperative cervical length was independently associated with sPTD before 32 weeks in the same population.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-10"},"PeriodicalIF":1.6,"publicationDate":"2025-03-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604440","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":"Foetal Megacystis: A Practical Guide.","authors":"Vanessa El-Achi, Aniruddh Deshpande, Fergus Scott, Maria-Elisabeth Smet","doi":"10.1159/000543816","DOIUrl":"10.1159/000543816","url":null,"abstract":"<p><strong>Background: </strong>Foetal megacystis is the enlargement of the foetal bladder seen on prenatal ultrasound. Diagnosing the underlying cause of foetal megacystis in the antenatal period is often challenging due to the many possible underlying aetiologies, including various obstructive and non-obstructive causes.</p><p><strong>Summary: </strong>The detection of foetal megacystis leads to an extensive diagnostic conundrum. Counselling, prognostication, and prenatal management may prove challenging. Prenatal intervention has been trialled with limited success.</p><p><strong>Key messages: </strong>This review article aims to be a practical guide to assist with the diagnosis, management and counselling for foetal megacystis in each trimester. It summarizes the evidence for each differential diagnosis and how to distinguish between them.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-15"},"PeriodicalIF":1.6,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143491441","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":"First-Trimester Universal One-Time Serology Screening for Cytomegalovirus: A Pilot Study at Two Tertiary Referral Centers in Barcelona (Catalunya, Spain).","authors":"Karen P Castillo, Laura Guirado, Alex Cahuana, María Angeles Marcos, Imma Mercadé, Elena Casals Font, Qiqi Liu, Clara Medina, Marta López, María Dolores Gómez-Roig, Francesc Figueras, Anna Goncé","doi":"10.1159/000544169","DOIUrl":"10.1159/000544169","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital cytomegalovirus (cCMV) is the main infectious cause of sensorineural hearing loss and neurodevelopmental disability. First-trimester and periconceptional period are the most vulnerable times for fetal injury. Universal serological cytomegalovirus (CMV) screening in pregnant women is not currently recommended. After a recent randomized controlled clinical trial that demonstrated a 70% reduction of vertical transmission with high-dose valacyclovir (VCV), a pilot first-trimester screening program was launched at our setting.</p><p><strong>Methods: </strong>This epidemiological surveillance study was conducted at two tertiary hospitals in Barcelona. The primary outcome was to evaluate the results of the first 2 years of implementation of a universal first-trimester CMV screening program. The secondary outcome was to assess maternal seroprevalence, and the burden of primary infection during the fetal risk period in this population. IgG and IgM antibodies were determined in first-trimester pregnant women at the time of the combined test for aneuploidy. In those with positive IgG and IgM, IgG avidity was performed through a fast alert system. Low or intermediate avidity was considered as primary infection in the first-trimester or periconceptional period, and women were offered VCV up to the time of amniocentesis. Infected fetuses were followed-up according to our clinical protocol.</p><p><strong>Results: </strong>From February 2021 to August 2023, 2,777 first-trimester pregnant women between 8+0 and 13+6 gestational weeks were screened. Maternal IgG seroprevalence was 70.6%. Among these, 22 (0.8%) had IgM antibodies, four with low or intermediate avidity, suggesting a recent primary infection, and they received oral VCV 2 g/6 h. Vertical transmission occurred in one with a delayed start of VCV treatment and the family opted for termination of pregnancy.</p><p><strong>Conclusions: </strong>Universal first-trimester CMV screening is feasible. A high seroprevalence was observed in our population. Larger studies will confirm whether screening is cost-effective in our setting.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.6,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143448707","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":"Analysis of Ultrasound Findings and Outcomes in Fetuses with Suspected Congenital Heart Disease at Less than 14 Weeks' Gestation Compared to Later Gestations.","authors":"Wenjia Lei, Jingjing Wang, Jijing Han, Yousheng Yan, Qingqing Wu","doi":"10.1159/000544033","DOIUrl":"10.1159/000544033","url":null,"abstract":"<p><strong>Introduction: </strong>This study aimed to compare the spectrum of cardiac anomalies, associated comorbidities, and outcomes in fetuses suspected of congenital heart disease (CHD) at less than 14 weeks' gestation with those in the later gestations.</p><p><strong>Methods: </strong>We conducted a 3-year retrospective study involving 352 fetuses suspected of CHD at our institution. The fetuses were divided into two groups based on the gestational age at which the CHD was initially detected. Initial CHD suspicion was noted within 14 weeks, forming group I. The remaining fetuses, initially suspected of CHD after 14 weeks, constituted group II. The type of CHD, ultrasound soft markers (USMs), associated extracardiac structural abnormalities (ECSAs), genetic testing results, and pregnancy outcomes were retrieved.</p><p><strong>Results: </strong>The types of CHD in group I (n = 76) were less varied than those in group II (n = 276). Isolated CHD was significantly more prevalent in group II (odds ratio [OR] = 0.170, 95% confidence interval [CI]: 0.092-0.316, p < 0.001). The frequency of ECSA and USMs was significantly greater in Group I (OR = 1.816, 95% CI: 1.180-2.795, p < 0.01; OR = 4.400, 95% CI: 3.375-5.737, p < 0.001, respectively). Chromosomal abnormalities were more prevalent in group I than in group II (65.0% vs. 16.5%, p < 0.001). There were no significant differences in termination rates between the two groups (OR = 1.099, 95% CI: 1.023-1.179, p = 0.043).</p><p><strong>Conclusion: </strong>The spectrum of diagnosed cardiac abnormalities differs between early and mid stages. Non-isolated cardiac abnormalities and chromosomal anomalies are more readily detectable in the early stages of pregnancy before the formal establishment of early cardiac screening programs. Early suspicion of cardiac anomalies may not be the predominant factor driving the termination decision.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-10"},"PeriodicalIF":1.6,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143432697","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":"Late Prenatal Development of Hindbrain Herniation in Open Spina Bifida.","authors":"Denise Araujo Lapa, Shivani Rangwala, Bassel Zebian, Matthew Brown, Jason Chu, Ramen H Chmait","doi":"10.1159/000543850","DOIUrl":"10.1159/000543850","url":null,"abstract":"<p><strong>Introduction: </strong>We describe 4 cases of open spina bifida initially presumed to be \"closed\" defects in which serial prenatal ultrasound examinations documented the occurrence of sac rupture and development of Chiari II malformation later in the pregnancy.</p><p><strong>Case presentation: </strong>In each case, the ultrasound examinations starting from 19 to 24 weeks' gestation, showed spinal cystic lesions containing neural elements but no evidence of Chiari II malformation. The lack of hindbrain herniation rendered them ineligible for prenatal surgical repair, but follow-up imaging at 24-32 weeks' gestation demonstrated the cystic lesions to be no longer visible or visible but decompressed, with the additional development of de novo hindbrain herniation.</p><p><strong>Conclusion: </strong>We conclude by recommending serial ultrasound surveillance of presumed closed spina bifida as these may be in fact open defects, with confirmatory diagnosis only possible later in pregnancy. This detection is important because it may change counseling since prenatal repair or planned delivery may be warranted.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-9"},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143413659","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":"Psychological Impact in Early Pregnancy Loss: The Effects of Disclosing the Causative Chromosomal Anomaly.","authors":"Maria Borrell, Montse Pauta, Aida Mallorquí, Victoria Ardiles-Ruesjas, Virginia Borobio, Carmen Illanes, Isabel Matas, Antoni Borrell","doi":"10.1159/000543684","DOIUrl":"10.1159/000543684","url":null,"abstract":"<p><strong>Introduction: </strong>The study investigated whether the disclosure of the chromosomal anomaly causing early pregnancy loss (EPL) favors the grief process and reduces psychological distress.</p><p><strong>Methods: </strong>Women experiencing EPL were invited to participate in the study at the time they were offered chorionic villi sampling (CVS) and karyotyping before uterine evacuation. They completed two online surveys: one a week after EPL and another a month later, after receiving cytogenetic results. The surveys measured anxiety (Hospital Anxiety and Depression Scale [HADS]), Beck Depression Inventory (BDI-II) cognitive depression factor items, post-traumatic stress disorder (Impact of the Event Scale-Revised [IES-R]), and rumination (Ruminative Responses Scale [RRS-10]). Participants were divided into groups based on the chromosomal anomaly found at CVS: A1 (autosomal trisomy), A2 (other anomalies), and B (no anomalies).</p><p><strong>Results: </strong>A significant score decline was observed in the four studied psychological scales assessing anxiety, depression, post-traumatic stress, and rumination, between the first and second survey. The proportion of women with a clinical score also demonstrated a significant decline, except for anxiety. When these changes were assessed after karyotypic group stratification, the group with other chromosomal anomalies (A2) showed the highest drop. This group also demonstrated a significantly higher depression score decline at multivariate regression analysis of the median.</p><p><strong>Conclusion: </strong>EPL significantly impacts women's mental health, with 19%-51% experiencing manifestations. Disclosing chromosomal anomalies may aid in psychological recovery, particularly in reducing clinical scores for depression.</p>","PeriodicalId":12189,"journal":{"name":"Fetal Diagnosis and Therapy","volume":" ","pages":"1-11"},"PeriodicalIF":1.6,"publicationDate":"2025-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143188758","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}