Prenatal DiagnosisPub Date : 2025-07-01Epub Date: 2025-05-21DOI: 10.1002/pd.6820
Ran Svirsky, Adi Sharabi-Nov, Ron Maymon, Nadav Kugler, Moran Landau Rabbi, Richard Brown, Heidy Portillo Rodriguez, Linda Peltier, Kypros Nicolaides, Hamutal Meiri
{"title":"Prediction of Preeclampsia in Twins Using First Trimester: cffDNA Fraction, PlGF, and MAP.","authors":"Ran Svirsky, Adi Sharabi-Nov, Ron Maymon, Nadav Kugler, Moran Landau Rabbi, Richard Brown, Heidy Portillo Rodriguez, Linda Peltier, Kypros Nicolaides, Hamutal Meiri","doi":"10.1002/pd.6820","DOIUrl":"10.1002/pd.6820","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate cell-free fetal DNA fraction (cffDNAF) as a first-trimester screening marker for preeclampsia necessitating delivery before 37 weeks' gestation in twin pregnancies alone and combined with other bio-markers.</p><p><strong>Methods: </strong>Women with two live fetuses were enrolled in the first trimester, and evaluated for cffDNAF as a first trimester preeclampsia marker alone, and with placental growth factor (PlGF), mean arterial pressure (MAP), and uterine artery pulsatility index (UtA-PI).</p><p><strong>Results: </strong>There were 20 affected women; the cffDNAF was 9.0% (IQR: 8.4%-10.3%) in the affected, compared to 14% (IQR: 11%-16%) in 163 unaffected cases (p < 0.001). The AUROC for cffDNAF was 0.73 (95% CI: 0.61-0.85, p < 0.001), PlGF had an AUROC of 0.71 (0.59-0.83, p = 0.001), MAP had AUROC of 0.61 (0.50-0.72, p = 0.053) whereas UtA-PI had AUROC of 0.54 (0.39-0.69, p > 0.05). Combining all three biomarkers yielded an AUROC of 0.89 (0.78-0.98), with a sensitivity of 81%, specificity of 90%, negative predictive value (NPV) of 97.5%, and positive predictive value (PPV) of 50.7 UtA-PI did not contribute to the AUROC.</p><p><strong>Conclusion: </strong>In twin pregnancies low first trimester cffDNAF effectively screens for preeclampsia necessitating delivery before 37 weeks' gestation, which is augmented with PlGF and MAP.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"968-978"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144111849","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Prenatal DiagnosisPub Date : 2025-07-01Epub Date: 2025-06-16DOI: 10.1002/pd.6838
Laurence Sophie Carmant, Elka Miller, David Chitayat, Stephanie Hedges, Bobbi McGivern, Kimberly Harris, Karen Chong, Shiri Shinar
{"title":"Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.","authors":"Laurence Sophie Carmant, Elka Miller, David Chitayat, Stephanie Hedges, Bobbi McGivern, Kimberly Harris, Karen Chong, Shiri Shinar","doi":"10.1002/pd.6838","DOIUrl":"10.1002/pd.6838","url":null,"abstract":"<p><p>Knobloch Syndrome-1 is a rare autosomal recessive disorder typically diagnosed postnatally and characterized by occipital encephalocele, high myopia, and vitreoretinal degeneration. We describe a fetus with a constellation of prenatal neuroimaging findings, including occipital cephalocele, vermian dysplasia, bilateral polymicrogyria, and ocular elongation, that prompted genetic investigation. Trio exome sequencing identified biallelic pathogenic variants in COL18A1, confirming the diagnosis of Knobloch Syndrome-1. This case highlights how advanced fetal neuroimaging and prenatal exome sequencing can facilitate early recognition of syndromes like Knobloch, and underscores the importance of considering COL18A1-related disorders when multiple central nervous system anomalies are detected prenatally.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1074-1077"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144310407","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Prenatal DiagnosisPub Date : 2025-07-01Epub Date: 2025-03-13DOI: 10.1002/pd.6773
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
{"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":"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":"1013-1026"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254425/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Prenatal DiagnosisPub Date : 2025-07-01Epub Date: 2025-05-07DOI: 10.1002/pd.6808
Lingling Zhang, Rui Wang, Yueshu Zhao, Juan Wu, Hezhou Li, Mengna Li
{"title":"Characteristic Analysis of Ultrasound Diagnosis of Limb Body Wall Complex in Early Pregnancy.","authors":"Lingling Zhang, Rui Wang, Yueshu Zhao, Juan Wu, Hezhou Li, Mengna Li","doi":"10.1002/pd.6808","DOIUrl":"10.1002/pd.6808","url":null,"abstract":"<p><p>This study aims to explore the diagnostic value of prenatal ultrasound in limb body wall complex (LBWC) during pregnancy and to improve the understanding of LBWC for early ultrasound diagnosis. The ultrasound data and follow-up results of 107 cases of LBWC (predominantly diagnosed in the first trimester) from the Third Affiliated Hospital of Zhengzhou University between 2014 and 2024 were retrospectively analyzed. The ultrasonographic features and fetal karyotype of LBWC were evaluated. The cohort included 107 LBWC fetuses (90 singletons and 17 twins). The typical ultrasonographic features were a major abdominal wall defect, severe kyphoscoliosis, limb abnormalities, neural tube defects, and a malformed short umbilical cord with a single artery. Notably, 38 cases clearly demonstrated fetal extruded organs located within the extraembryonic celom. Genetic testing (7 CNV-seq, 12 CMA, 1 karyotype only) in 20 cases revealed normal results in 18 without clear cause and effect in the remaining two. Selective fetal reduction was performed in four twin pregnancies, resulting in successful delivery of healthy neonate; all remaining cases underwent pregnancy termination. LBWC is a severe developmental malformation with a very poor prognosis. Ultrasonography enables early detection during the first trimester, demonstrating critical diagnostic value in prenatal screening and pregnancy management.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"1004-1012"},"PeriodicalIF":2.7,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12254429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144028390","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
H Heinrich, D Kunne, J P M Derikx, E van Leeuwen, I H Linskens, E Pajkrt
{"title":"Vaginal Delivery in Cases of Prenatally Diagnosed Omphalocele: Feasibility and Outcomes.","authors":"H Heinrich, D Kunne, J P M Derikx, E van Leeuwen, I H Linskens, E Pajkrt","doi":"10.1002/pd.6843","DOIUrl":"https://doi.org/10.1002/pd.6843","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to assess outcomes of fetuses with prenatally detected omphalocele and the frequency of successful vaginal delivery in pregnancies with suspected non-lethal omphalocele and intended active neonatal management and its impact on neonatal outcome.</p><p><strong>Method: </strong>Prenatally diagnosed omphalocele cases in Amsterdam UMC from January 2007 to January 2023 were selected. Ultrasound data including the omphalocele circumference/abdominal circumference (OC/AC) ratio were collected and perinatal data were obtained for liveborn cases.</p><p><strong>Results: </strong>A total of 225 cases were included, with a live birth rate of 20.0% (45/225). Of the suspected non-lethal cases with active neonatal management, vaginal delivery was pursued in 78.9% (30/38), of which 76.7% (23/30) succeeded. The rate of giant omphaloceles did not differ significantly between vaginal and caesarean deliveries, nor did the rate of nulliparity, maximum OC/AC ratio, extracorporeal liver on prenatal ultrasound and successful primary closure. Intrapartum sac rupture occurred in 13.0% (3/23) of successful vaginal deliveries, which was not associated with the OC/AC ratio and in none of the cases with cesarean section. Birth dystocia of the abdomen occurred in none of the cases.</p><p><strong>Conclusion: </strong>In cases of intended vaginal delivery, 76.7% of vaginal deliveries succeeded, even in cases with giant omphalocele, of which the majority did not experience perinatal complications. Therefore, vaginal delivery appears to be a feasible option in cases with prenatally diagnosed omphaloceles.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144529404","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}
Christopher D Porada, Anthony Atala, Graça Almeida-Porada
{"title":"Hemophilia A: An Ideal Disease for Prenatal Therapy.","authors":"Christopher D Porada, Anthony Atala, Graça Almeida-Porada","doi":"10.1002/pd.6833","DOIUrl":"10.1002/pd.6833","url":null,"abstract":"<p><p>Hemophilia A (HA) is the most common inherited coagulation defect. Current state-of-the-art treatment consists of frequent administration of prophylactic infusions of coagulation factor VIII (FVIII) protein or bispecific antibodies that replace the cofactor function of FVIIIa to maintain hemostasis. However, these treatments are far from ideal, due to their high cost, the need for lifelong treatment, the fact that they are unavailable to a large percentage of the world's persons with hemophilia A (PWHA), and the high risk of treatment failure due to immune response to the infused FVIII protein. Thus, there is a need for novel treatments, such as those using gene therapy and/or cell transplantation, that can promise long-term correction or permanent cure. In the present review, we discuss the clinical feasibility and unique advantages a prenatal approach to HA treatment could offer, placing special emphasis on a sheep model of HA we developed and on using mesenchymal cells (MSC) as cellular delivery vehicles for the FVIII gene to achieve a single treatment cure for HA prior to birth.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12288728/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144267172","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Assessment of Learning Curve for Radiofrequency Ablation in Twin Reversed Arterial Perfusion Sequence: A Simulation Model Study.","authors":"Tanchanok Chaiperm, Nisarat Phithakwatchara, Katika Nawapun, Sommai Viboonchart, Suparat Jaingam, Kanokwaroon Watananirun, Tuangsit Wataganara","doi":"10.1002/pd.6801","DOIUrl":"10.1002/pd.6801","url":null,"abstract":"<p><strong>Objective: </strong>This study characterized the procedural learning curve of novice practitioners in mastering radiofrequency ablation (RFA) in a simulated twin reversed arterial perfusion sequence (TRAPS) model.</p><p><strong>Method: </strong>Twelve novices practiced RFA in a TRAPS model, which was evaluated for validity. A learning curve CUSUM analysis was performed to define the number of procedures required to achieve competency. The learning plateau of needle insertion time and the number of procedures required to surpass 90% of the learning plateau were calculated.</p><p><strong>Results: </strong>The overall model rating of 4.26 ± 0.58 serves as validating the high learning performance. A success rate of 92.8% was achieved across 767 procedures. The average number of procedures required to achieve technical competency was 29 relative to years of experience in minimally invasive prenatal testing. After reaching this competency level, the success rate improved from 88.2% to 96.7% (P < 0.001). The needle insertion time learning curve indicated that 90% of the learning plateau was reached after 21 procedures, with the learning plateau occurring at 27.5s.</p><p><strong>Conclusion: </strong>Performance in RFA within the simulated TRAPS model improved over time. Achieving competency enhanced technical success and shortened the needle insertion process. This simulation training provides practical skills for inexperienced surgeons.</p><p><strong>Trial registration: </strong>TCTR20221005001.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"805-813"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12137029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Prenatal DiagnosisPub Date : 2025-06-01Epub Date: 2025-04-19DOI: 10.1002/pd.6799
Hakan Erenel, Verda Alpay, Baris Boza, Tugce Tunc Arslanoglu
{"title":"Prenatal Treatment of Bronchopulmonary Sequestration via Radiofrequency Ablation of the Feeding Artery.","authors":"Hakan Erenel, Verda Alpay, Baris Boza, Tugce Tunc Arslanoglu","doi":"10.1002/pd.6799","DOIUrl":"10.1002/pd.6799","url":null,"abstract":"","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"814-816"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019910","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}
Prenatal DiagnosisPub Date : 2025-06-01Epub Date: 2025-04-22DOI: 10.1002/pd.6806
Qu-Xia Yu, Yong-Ling Zhang, Si-Yun Li, Li Zhen, Dong-Zhi Li
{"title":"Phenotypic Features of Fourteen Fetal Cases With a PTEN Variant.","authors":"Qu-Xia Yu, Yong-Ling Zhang, Si-Yun Li, Li Zhen, Dong-Zhi Li","doi":"10.1002/pd.6806","DOIUrl":"10.1002/pd.6806","url":null,"abstract":"<p><strong>Objective: </strong>To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses diagnosed in utero with a PTEN variant.</p><p><strong>Method: </strong>This retrospective study analyzed 14 cases of PTEN variants identified through prenatal ultrasound and subsequently confirmed by genetic testing. Clinical and laboratory data were collected for these cases, encompassing maternal demographics, prenatal sonographic findings, molecular testing results, and pregnancy outcomes.</p><p><strong>Results: </strong>A total of 14 fetuses with (likely) pathogenic PTEN variants were included in the study. Five cases exhibited abnormalities on second-trimester ultrasound scans; specifically, three presented with macrocephaly, one showed mild ventriculomegaly, and another had cardiac defects (coarctation of the aorta and ventricular septal defect). Nine additional cases were identified during the third trimester. Among these nine cases, six displayed macrocephaly with or without polyhydramnios and ventriculomegaly; one case had mild ventriculomegaly; another presented only with mild polyhydramnios; and one was characterized by macrosomia. Eleven cases involved de novo variants, whereas three variants were inherited from parents.</p><p><strong>Conclusions: </strong>Macrocephaly emerged as the most prevalent sign observed in utero that prompted genetic detection of PTEN defects. This study encourages obstetricians to enhance their awareness regarding PTEN-related disorders in fetuses presenting with macrocephaly.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":"817-824"},"PeriodicalIF":2.7,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144021428","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}