Prenatal Diagnosis最新文献

{"title":"Screening Positive for Rare Autosomal Aneuploidies Increases Frequency of Adverse Pregnancy Outcomes and Alters Clinical Management.","authors":"Devika Chawla, D Claire Miller, Summer Pierson, Lyuba Popadic, Francesca Devine, Dallas Reed, Katherine Johansen Taber","doi":"10.1002/pd.6776","DOIUrl":"https://doi.org/10.1002/pd.6776","url":null,"abstract":"<p><strong>Objective: </strong>Outcomes in pregnancies with rare autosomal aneuploidies (RAAs) are poorly characterized, with most studies having small sample sizes. Here, we describe outcomes and management in a large cohort of pregnancies that screened positive for an RAA (RAA+).</p><p><strong>Methods: </strong>Results of prenatal cell-free DNA screening were linked to de-identified insurance claims data. Diagnosis and procedure codes were used to estimate pregnancy outcomes and management. Relevant covariates in comparative analyses were adjusted using propensity-score matching. Outcomes were statistically compared using Mantel-Haenszel and McNemar's tests.</p><p><strong>Results: </strong>Among 682 RAA+ pregnancies, the rate of live birth was significantly lower (56.7% vs. 78.7%; p < 0.001), and the rates of miscarriage and preterm birth were significantly higher (14.8% vs. 3.2%, p < 0.001; 18.5% vs. 8.9%, p < 0.001; respectively), compared to pregnancies with RAA- results. In pregnancies that screened positive for a rare autosomal trisomy (RAT+) and in which the RAT+ results were known, ultrasounds (mean: 3.7 vs. 2.5, p = 0.002), and pregnancy-specific visits (mean: 6.6 vs. 5.1; p = 0.007) were more frequent compared with pregnancies in which the RAT+ result was unknown.</p><p><strong>Conclusion: </strong>Pregnancies with RAA+ results had higher rates of adverse outcomes compared with those with RAA- results, and awareness of RAA+ results was associated with more intensive monitoring.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143693006","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Persistent Uninterpretable or Failed Prenatal Cell-Free DNA Screening Indicates a High-Risk Pregnancy and is Associated With Biological Factors Interfering With cfDNA-Analysis: A Prospective Cohort Study.","authors":"L Lannoo, K Van Den Bogaert, A Belmans, N Brison, L Dehaspe, E De Langhe, L Vancoillie, I Parijs, J R Vermeesch, K Devriendt, K Van Calsteren","doi":"10.1002/pd.6778","DOIUrl":"https://doi.org/10.1002/pd.6778","url":null,"abstract":"<p><strong>Objective: </strong>To investigate maternal characteristics, underlying factors and perinatal outcome in pregnancies with persistent uninterpretable prenatal cfDNA screening in a general obstetric population (GOP).</p><p><strong>Methods: </strong>This study included pregnant individuals with persistent uninterpretable prenatal cfDNA screening results from December 2020 to December 2022. Prenatal cfDNA screening results were classified as uninterpretable due to low quality score (LQS) or low fetal fraction (LFF). Maternal autoimmune screening and a third prenatal cfDNA screening were performed later in pregnancy. Data on maternal characteristics and perinatal outcome were analyzed.</p><p><strong>Results: </strong>Among 123 pregnant individuals with failed prenatal cfDNA screening, 68% were due to LFF and 32% to LQS. Obesity and autoimmune diseases were significantly overrepresented. A third prenatal cfDNA screening at 24 weeks was informative in 77.1% cases, with a higher success-rate in the LFF group (87.8%). Maternal autoimmune screening revealed unknown triple positivity for antiphospholipid antibodies in 2.4%. Abnormal perinatal outcome was registered in 69.9% of patients, with higher rates of adverse perinatal outcome in the LFF group.</p><p><strong>Conclusion: </strong>Persistent uninterpretable prenatal cfDNA screening indicates a higher risk for adverse perinatal outcomes, especially in cases with LFF. Maternal autoimmune screening should be considered to identify high-risk pregnancies. A third prenatal cfDNA screening later in pregnancy can help stratify truly high-risk pregnancies and allows patients with initially uninterpretable results to make an informed decision about diagnostic testing.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"'I Have my Beliefs, but Then I Have my Reality': Reflections of Black and South Asian Parents Living in England on Screening and Genetic Diagnosis in Pregnancy.","authors":"Michelle Peter, Rashida Baptiste, Rachael Buabeng, Lily Islam, Jane Fisher, Kerry Leeson-Beevers, Melissa Hill, Lyn S Chitty","doi":"10.1002/pd.6782","DOIUrl":"https://doi.org/10.1002/pd.6782","url":null,"abstract":"<p><strong>Objectives: </strong>Black and South Asian women in the UK face disproportionately worse pregnancy and maternal outcomes. Yet, they are underrepresented in research. Understanding their attitudes towards prenatal tests (screening tests and diagnostic genetic tests) is critical for offering equitable prenatal care.</p><p><strong>Methods: </strong>Focus groups examined attitudes towards prenatal testing amongst Black and South Asian parents. Discussions were analysed using reflexive thematic analysis.</p><p><strong>Results: </strong>Twelve Black and 15 South Asian parents participated in four focus groups. Four themes were identified: 'The desire for information', 'The circle of trust', 'Faith and culture as navigators', and 'Knowledge and understanding of genetics'. Black and South Asian parents were open to prenatal screening tests, valuing the information about their baby's health. However, most opposed invasive testing because of the risks of harm to the baby. Wanting to be prepared, trust in healthcare, family influence and understanding of genetics shaped attitudes. Faith played a significant and varied role, with Muslim and Christian beliefs influencing decision-making.</p><p><strong>Conclusion: </strong>This study underscores the need for culturally respectful prenatal care and the importance of building trust between healthcare services and Black and South Asian communities. It also highlights the value of including people from underrepresented populations in research for supporting health equity.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143670904","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can Fetal Heterotaxy Syndrome Be Diagnosed Through Prenatal Ultrasound in the First Trimester (GA 11⁺⁰-13⁺⁶ Weeks)?","authors":"Biying Huang, Qiumei Wu, Shan Guo, Guorong Lyu, Fa Chen, Min Liu, Hong Ma, Wen Ling, Zongjie Weng","doi":"10.1002/pd.6772","DOIUrl":"https://doi.org/10.1002/pd.6772","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the value of prenatal ultrasonography in the diagnosis and classification of fetal heterotaxy syndrome (HS) in the first trimester (gestational age 11⁺⁰-13⁺⁶ weeks).</p><p><strong>Methods: </strong>A retrospective analysis of data from 31 HS fetuses prenatally diagnosed with HS. Diagnoses were confirmed by follow-up prenatal ultrasound and in some cases postnatal ultrasound or autopsy. Data were collected on ultrasound characteristics of left atrial isomerism (LAI) and right atrial isomerism (RAI) in the first trimester, follow up ultrasounds, pregnancies outcomes, and postnatal ultrasound or autopsy findings, if available.</p><p><strong>Results: </strong>In total, 23cases of HS were diagnosed in the first trimester, and 8 cases were missed during the GA 11⁺⁰-13⁺⁶ weeks ultrasound. The sensitivity, specificity, false positive rate, false negative rate, positive predictive value, and negative predictive value of prenatal ultrasound examination for fetal HS were 74.19%, 100%, 0, 25.80%, 100%, and 99.98%, respectively. The main and common manifestations of fetal HS included abnormal positioning of the stomach and heart and positioning of the stomach and umbilical vein (UV) on different sides, combined with complete atrioventricular septal defect (AVSD), double outlet of the right ventricle (DORV) and other CHDs. Compared with RAI, fetuses with LAI in the first trimester of pregnancy were more prone to bradycardia and ductus venous (DV) a-wave inversion (p < 0.05). Among the 31 HS cases, only 6 pregnancies were continued, resulting in one neonatal death and five liveborns with a good prognosis.</p><p><strong>Conclusion: </strong>Ultrasound performed during GA 11⁺⁰-13⁺⁶ weeks can be an effective tool for diagnosing fetal HS, particularly when significant cardiovascular anomalies are present. However, fetal LAI without complex intracardiac malformations is more likely to be missed in diagnosis during the first trimester. Most cases of HS diagnosed in early pregnancy are associated with major intracardiac anomalies and result in termination of pregnancies.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143664325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Amniocentesis and Risk of Fetal Loss in Dichorionic-Diamniotic Twin Pregnancy: A Case-Control Study.","authors":"Sofia Roero, Agata Ingala, Silvana Arduino, Carlotta Bossotti, Simona Bastonero, Francesca Maria Comoglio, Ilaria Dusini, Annasilvia Pertusio, Roberto Scali, Simona Sdei, Alberto Revelli, Andrea Sciarrone","doi":"10.1002/pd.6777","DOIUrl":"https://doi.org/10.1002/pd.6777","url":null,"abstract":"<p><strong>Objective: </strong>There is a paucity of data regarding the risk of fetal loss due to invasive prenatal diagnosis in twins. The aim of the present study is to assess the rate of amniocentesis-related fetal loss in uncomplicated dichorionic-diamniotic (DCDA) twin pregnancies.</p><p><strong>Methods: </strong>Retrospective observational case-control study. DCDA twin pregnancies undergoing amniocentesis between January 2010 and December 2023 formed the case group. The control group comprised counterparts who did not undergo amniocentesis. The primary outcome of the study was procedure-related fetal loss. Secondary outcomes were miscarriage rate, overall fetal loss and gestational age at birth.</p><p><strong>Results: </strong>Our dataset included 220 and 662 women in the case and control groups, respectively. No difference in the primary outcome was found: procedure-related fetal loss of one fetus was 0.9% in the case group and 1.1% in the control group, and of both fetuses it was 0.5% in both groups (p = 0.982). No difference was found in secondary outcomes: the fetal loss rate of one fetus was 1.8% in the case group and 2.1% in the control group, while that of both fetuses it was 0.5% and 0.8% respectively (p = 0.853). Multivariate analysis confirmed the nonsignificant effect of amniocentesis on the risk of fetal loss.</p><p><strong>Conclusion: </strong>Amniocentesis does not seem to increase the risk of fetal loss in uncomplicated DCDA twin pregnancies above the baseline risk of loss among twin gestations.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143658350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"'When Lightning Strikes Twice'-Preimplantation Genetic Testing for Two Indications in One Biopsy.","authors":"Einav Kremer, Hagit Daum, Amy Solnica, Tamar Krisher, Assaf Ben Meir, Efrat Esh-Broder, Mali Ketzinel Gilad, Talya Daniel Mordechai, Tal Imbar","doi":"10.1002/pd.6779","DOIUrl":"https://doi.org/10.1002/pd.6779","url":null,"abstract":"<p><strong>Objective: </strong>We aimed to investigate whether the clinical pregnancy and live birth rates in women undergoing preimplantation genetic testing for two indications (PGT2) differ from PGT for one autosomal dominant indication (PGT1).</p><p><strong>Method: </strong>This retrospective cohort study summarizes data from 44 PGT patients treated between 2015 and 2023. Data were divided into PGT2 (n = 22 patients, 113 treatment cycles) and PGT1 (n = 22 patients, 108 treatment cycles) groups. Statistical analysis included descriptive statistics, independent t-tests, Mann-Whitney U tests, mixed models, and multivariable mixed logistic regressions.</p><p><strong>Results: </strong>The groups did not differ in clinical pregnancy and live birth rates. PGT2 patients had more fresh embryos per cycle than the PGT1 group (4.84 vs. 3.18 respectively; p = 0.067) and a significantly lower number of frozen embryos after biopsy (0.29 vs. 0.60 respectively; p = 0.037). No difference was found regarding the mean suitable embryos for biopsy. The PGT2 group had fewer embryos to transfer per cycle (1.30 vs.1.89; p = 0.007), yet there was no difference regarding the number of transferred embryos per cycle.</p><p><strong>Conclusion: </strong>Testing for two genetic indications in one biopsy is feasible yet yields a lower proportion of embryos genetically suitable for transfer but with a similar live birth rate.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143649999","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Digital PCR Assay Utilizing In-Droplet Methylation-Sensitive Digestion for Estimation of Fetal cfDNA From Plasma.","authors":"Richard Dannebaum, Olga Mikhaylichenko, David Siegel, Chenyu Li, Eric Hall, Severine Margeridon, Monica Herrera, Kristin Loomis, Thea Riel, Madhumita Ramesh, Maria Gencoglu, Nathan Hendel, Anthony Henriquez, Nyari Dzvova, Raymond-John Abayan, Xinhua Lin, Martin Chavez, Nazeeh Hanna","doi":"10.1002/pd.6774","DOIUrl":"https://doi.org/10.1002/pd.6774","url":null,"abstract":"<p><strong>Objective: </strong>Recent guidelines suggest that non-invasive prenatal screening (NIPS) should be offered to all patients with singleton and twin pregnancies. Accurate determination of fetal fraction in cell-free DNA (cfDNA) is vital for reliable NIPS outcomes. We propose a methylation-based approach using droplet digital PCR (ddPCR) and methylation-sensitive restriction enzyme (MSRE) digestion for fetal fraction quantification as an affordable and fast solution.</p><p><strong>Method: </strong>Following biomarker discovery using early pregnancy placental genomic DNA (gDNA) and cfDNA from non-pregnant female individuals, we designed assays targeting MSRE-compatible regions based on contrasting methylation patterns between maternal and fetal cfDNA. We established a proof-of-concept ddPCR workflow on the Bio-Rad Droplet Digital PCR QX600 instrument.</p><p><strong>Results: </strong>Testing the fetal fraction assay multiplex on 137 prospective clinical samples demonstrated high concordance with NGS results for both female and male pregnancies as well as with chromosome Y-based calculations for samples with a male fetus. Reproducibility analysis indicated lower variability compared to previously reported NGS performance.</p><p><strong>Conclusion: </strong>This study showcases the potential of this novel, 6-color, high-multiplex methylation ddPCR panel for accurate measurement of fetal fraction in cfDNA samples. It presents opportunities to integrate such methodology as a standalone measurement to assess the quality of samples undergoing NIPS.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143639797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Improving the Performance of Prenatal Cell-Free DNA Screening Through Size-Selective Fetal DNA Enrichment in a Cohort of 71,986 General and High-Risk Pregnancies.","authors":"Liang Hu, Lijuan Wen, Yanan Liu, Xiaohang Chen, Jiatong Zhong, Weiqiang Liu, Fengxiang Wei","doi":"10.1002/pd.6775","DOIUrl":"https://doi.org/10.1002/pd.6775","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the performance of prenatal cell-free DNA (cfDNA) screening with and without the cell-free fetal DNA enrichment method in general-risk and high-risk pregnancies.</p><p><strong>Methods: </strong>We performed a size-selective cell-free fetal DNA enrichment in 71,986 pregnancies. The cfDNA screening and follow-up results were collected for trisomies 21, 18, 13, fetal sex chromosome abnormalities (SCAs), and copy number variants (CNVs). The fetal fraction of cfDNA, positive rates, and positive predictive values (PPV) were compared between the general-risk and high-risk pregnancies with and without enrichment.</p><p><strong>Results: </strong>With the cell-free fetal DNA enrichment, the fetal fraction of cfDNA increased to 18.87 ± 5.94. The overall PPVs for common trisomies increased to 88.46% and 91.11% in the general- and high-risk populations, respectively. For CNVs, the PPVs with enrichment increased to 53.52% and 66.67% in the general risk and high-risk populations, respectively. However, for SCAs, the PPV was not improved by cell-free fetal DNA enrichment. The failure rates in the general-risk and high-risk groups decreased to 0.01% and 0.08%.</p><p><strong>Conclusions: </strong>Cell-free fetal DNA enrichment significantly improves the PPVs of common trisomies and CNVs in general and high-risk populations. It has the potential for the clinical application effect of cell-free DNA screening.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Fall Out of the 2017 European Medical Device Regulation for Tracheal Occlusion.","authors":"Francesca Russo, Alexandra Benachi, Frank Meijer, Fanny Cauvet, Hélène Berrué-Gaillard, Beverley Power, Jan Deprest","doi":"10.1002/pd.6763","DOIUrl":"https://doi.org/10.1002/pd.6763","url":null,"abstract":"<p><strong>Objective: </strong>The use of the Balt Goldbal-balloon and Baltacci-catheter in Fetoscopic Endoluminal Tracheal Occlusion is affected by the 2017-European Medical Device Regulation, which necessitates recertification even for devices long considered safe. This regulation has led the manufacturer to stop distributing these devices in Europe. We alert fetal surgery centers to these challenges and regulators to the broader impact on the availability of fetal therapy devices in Europe.</p><p><strong>Methods: </strong>We surveyed 50 fetal surgery centers worldwide and communicated directly with the manufacturer. Additionally, we provide updates on a new device under evaluation.</p><p><strong>Results: </strong>The response rate among 39 balloon users was 95% (n = 37). Currently, all balloons in Europe are expired. Supply issues exist in Australasia and South-America, with some distributors reporting discontinuation despite the manufacturer's communications on its sustained availability. Some centers manage shortages by importing from other countries. Balt has agreed to supply devices to European centers that obtain derogation by the national competent authorities, for which we cannot provide a generic procedure. An alternative device is unlikely to be marketed before 2026.</p><p><strong>Conclusion: </strong>This scenario highlights the unintended consequences of stringent medical device regulations, leading to their unavailability for beneficial procedures or complicated administrative processes, even as these devices remain available outside the EU.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143634318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Fetal Urinoma Secondary to Posterior Urethral Valve and Its Association to Postnatal Renal Function: A Multicenter Retrospective Study.","authors":"Flore-Anne Martin, Matthieu Peycelon, Nicolas Vinit, Thibault Planchamp, Olivier Abbo, Maela Le Lous, Gwenaelle Le Bouar, Yves Ville, Annabelle Paye-Jaouen, Thomas Blanc, Alexis P Arnaud","doi":"10.1002/pd.6773","DOIUrl":"https://doi.org/10.1002/pd.6773","url":null,"abstract":"<p><strong>Aim: </strong>The role of prenatal urinoma in lower urinary tract obstruction (LUTO) such as posterior urethral valves (PUV) is debated. We aimed to describe the risk factors associated with fetal urinoma and the association between fetal urinoma and postnatal renal function before 2 years of age.</p><p><strong>Methods: </strong>This retrospective multicenter case-control study from 2000 to 2018 included pregnant patients with suspected LUTO in their male fetus on prenatal ultrasound and postnatal confirmation of PUV. The exposure criterion was prenatal urinoma. The main composit outcome (MCO) was chronic kidney disease stage 3 or higher (CKD3+) before 2 years or death. Descriptive analyses of patient data and crude and multivariate logistic regression analyses were performed in an intent-to-treat fashion, thus including lost-to-follow-up patients. Ethical approval # 20.144.</p><p><strong>Results: </strong>We included 299 patients, of whom 39 (13%) had prenatal urinoma. Thirty-eight patients had a termination of pregnancy (12.7%). Sixty-four (24.5%) patients'children were MCO positive. Twenty-one children were lost-to-follow-up, including one prenatal urinoma. Thirty-nine (60.9%) of the remaining children had CKD3+ before the age of two, of whom 6 had a prenatal urinoma (9.4%). Among the 197 children negative to the MCO, 24 had a prenatal urinoma (12.2%, p = 0.42). Four died neonatally. In livebirth patients, prenatal urinoma was associated with obstetrical complications (p = 0.02), prenatal bloodcord sample for fetal beta2-microglobulin (p = 0.01) and uro-amniotic shunt (p = 0.01). Patients with prenatal urinoma more often presented with oligohydramnios (p = 0.01) and dilated posterior urethra (p = 0.01) and were less likely to have urinary tract infections (p = 0.02), although their DMSA scan was more often altered (p = 0.001). Prenatal urinoma was not significantly associated with CKD3+ before 2 years (OR = 0.56, CI98% = 0.20-1.39, p = 0.23).</p><p><strong>Conclusion: </strong>Renal function in infants with PUV was not worsened by the presence of a prenatal urinoma. Thus, there should not be any more pejorative message conveyed to concerned couples apart from other already known prenatal poor prognosis risk factors.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143625673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}