Prenatal Diagnosis最新文献

{"title":"Role of Biologics in Fetal Hematologic Conditions: HDFN and FNAIT.","authors":"Kenneth J Moise","doi":"10.1002/pd.6854","DOIUrl":"https://doi.org/10.1002/pd.6854","url":null,"abstract":"<p><p>Maternal alloimmunization to fetal red cell and platelet antigens results in the formation of IgG antibodies that can be transported across the placenta. In more severe cases, the resulting hemolytic disease of the fetus/newborn (HDFN) is manifested by fetal anemia, hydrops and perinatal death. In the case of platelet alloimmunization, fetal/neonatal alloimmune thrombocytopenia (FNAIT) manifests as a decreased platelet count and intracranial hemorrhage. Intravenous immune globulin (IVIG) in red cell alloimmunization in cases where there has been early-onset HDFN in a previous pregnancy can result in a prolongation of the gestational age until intrauterine transfusions of red cells are needed in the treated pregnancy. In cases of maternal platelet alloimmunization, IVIG started at varying gestational ages and doses based on the severity of FNAIT in a previous pregnancy can improve perinatal outcomes. Nipocalimab, a humanized monoclonal antibody that blocks the neonatal Fc receptor, results in both a decrease in circulating levels of maternal IgG and decreased transplacental transport. This investigational drug is currently being studied through several randomized clinical trials in both HDFN and FNAIT.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144765318","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":"International Society for Prenatal Diagnosis 2024 Debate 3-Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies.","authors":"Yassmine M N Akkari, Michael E Talkowski, Amy M Breman","doi":"10.1002/pd.6847","DOIUrl":"https://doi.org/10.1002/pd.6847","url":null,"abstract":"<p><p>Cytogenetic technologies such as G-banding chromosome and FISH analyses have long been the gold standard diagnostic test in prenatal genetic testing. However, unbiased next-generation sequencing technologies such as fetal exome or genome sequencing (ES/GS) are becoming widely accessible and increasingly utilized, particularly for fetuses with structural anomalies. Emerging studies are now establishing increased diagnostic yields from molecular technologies, but there remains a lack of consensus as to whether ES/GS should replace cytogenetic technologies and targeted genepanel screening as first-line tests for all prenatal diagnoses. This report is a summary of the debate on this topic presented at the 28th International Conference on Prenatal Diagnosis and Fetal Therapy. Both expert debaters discussed the advantages and disadvantages.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144765317","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":"Diagnosis and Management of Prenatal Hereditary Pyropoikilocytosis.","authors":"Connor Hartzell, Samantha Stover, Nora Gibson, Timothy Olson, James Connelly, Matthew Grace, Jennifer Andrews","doi":"10.1002/pd.6867","DOIUrl":"https://doi.org/10.1002/pd.6867","url":null,"abstract":"<p><p>Hereditary pyropoikilocytosis (HPP) is a severe hemolytic anemia caused by variants in SPTA1, SPTB, and EPB41. These weaken horizontal interactions in the erythrocyte cytoskeleton, causing membrane fragmentation and splenic sequestration. It will readily cause fetal anemia and often hydrops fetalis. Prenatal diagnosis requires first ruling out immune and other non-immune causes of fetal anemia. Diagnosis is made using characteristic blood smear morphology, ideally examined on a native blood sample, paired with exome sequencing. When these are inconclusive, laboratory tests such as ektacytometry and eosin-5-maleimide flow cytometry can help distinguish HPP from other membranopathies. Prenatal disease almost always requires intrauterine transfusion. In the neonatal period, HPP will continue to cause severe anemia, and patients usually remain transfusion dependent until definitive intervention. For some patients, splenectomy relieves or reduces their transfusion requirements while others continue to be transfusion dependent. This response may be related to a patient's genotype. Allogeneic stem cell transplant (SCT) is an emerging therapy that has been performed in a few patients with good outcomes. We report three additional patients with membranopathy who have undergone SCT. All were diagnosed prenatally and required transfusion support pre- and post-natally. Following SCT, all patients became transfusion independent and are doing well.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718335","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":"Prenatal Ultrasound Features of Biliary Atresia: Diagnostic Significance of Abnormal Gallbladder Size and Hepatic Hilar Cyst.","authors":"Wu Xu, Wen Ling, Xiaolong Ren, Guorong Lyu, Fengying Ye, Yuanfang Lai, Luyao Zhou, Lizhu Chen, Zongjie Weng","doi":"10.1002/pd.6865","DOIUrl":"https://doi.org/10.1002/pd.6865","url":null,"abstract":"<p><strong>Objective: </strong>To explore the predictive potential of prenatal ultrasound features and their capacity to differentiate biliary atresia (BA) in fetuses exhibiting biliary abnormalities.</p><p><strong>Methods: </strong>Data of pregnant women who underwent routine fetal ultrasound screening during the second trimester (18-27⁺⁶ weeks) were retrospectively analyzed in the 2018-2022 period. Fetuses with suspected biliary abnormalities in the second trimester were identified, and the cases were categorized into 5 groups: enlarged fetal gallbladder, small fetal gallbladder, non-visualized fetal gallbladder, hepatic hilar cyst, and fetal duplicated gallbladder. Follow-up assessments were conducted in the third trimester and postnatally.</p><p><strong>Results: </strong>Among the 339 cases with suspected fetal biliary abnormalities, 10 cases were postnatally diagnosed with BA. Among them, 2 cases (2.04%, 2/98) were in the small fetal gallbladder group, 3 cases (3.95%, 3/76) were in the non-visualized fetal gallbladder group, and 5 cases (20.83%, 5/24) were in the hepatic hilar cyst group. In the small fetal gallbladder, non-visualized fetal gallbladder, and total suspected fetal biliary abnormalities groups, the incidence of BA increased when accompanied by additional structural abnormalities compared with isolated cases (all p < 0.05). Within the small fetal gallbladder and non-visualized fetal gallbladder groups, a consistent feature associated with BA and gallbladder agenesis was the persistence of abnormal gallbladder size despite increasing gestational age. In the group with hepatic hilar cysts, significant prenatal differences between cystic BA and biliary dilatation were observed in cyst morphology, maximum diameter, changes in cyst size with gestational age, and fetal gallbladder size (p < 0.05). Cyst morphology, maximum diameter, and gallbladder size demonstrated potential in differentiating cystic BA from biliary dilatation. The combination of these three features achieved a sensitivity of 100% and a specificity of 94.7%.</p><p><strong>Conclusions: </strong>Persistent small or non-visualized fetal gallbladder, along with specific hepatic hilar cyst and other structural abnormalities, are crucial prenatal ultrasound findings for early diagnosis of BA. Early and repeated assessments, incorporating multi-feature observations, are essential for improving differential diagnosis and enhancing optimal outcomes.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708570","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":"Neurosonographic Evaluation of Cerebral Cortical Development in Fetuses With Congenital Heart Disease: A Systematic Review of the Literature.","authors":"Marcelo Dantas Cerqueira Monteiro, Thatiane Lopes Valentim Di Paschoale Ostholin, Miriam Pérez-Cruz, Luana Sarmento Neves da Rocha","doi":"10.1002/pd.6862","DOIUrl":"https://doi.org/10.1002/pd.6862","url":null,"abstract":"<p><p>This systematic review collated data from neurosonography and ultrasound evaluations to assess changes in the cortical development of fetuses with congenital heart disease (CHD). Of the 135 articles identified by two independent reviewers, five that satisfied our inclusion criteria were selected. Cortical evaluation was performed by 2D and/or 3D ultrasound via either a transabdominal or transabdominal plus transvaginal approach. One study used a brain-age evaluation algorithm, while the other four measured the depths of brain fissures. Gestational age at the time of fetal evaluation was very heterogeneous, from 20 to 37 weeks. Four of the studies included several types of CHD but one included only fetuses with tetralogy of Fallot. All five studies detected significant delays in the development of brain sulci and gyri in CHD fetuses compared to controls. In general, the studies were of good methodological quality, but all showed some risk of bias. The main methodological issue was the lack of comparison of ultrasound findings with magnetic resonance imaging data. To conclude, ultrasound was found useful in the evaluation of fetal cortical development, showing that fetuses with CHD present some degree of delayed cortical development, but postnatal studies are needed to understand if it correlates with impaired neurodevelopment.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144718336","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":"Global Delivery of Foetal Sequencing: Do We Need Some Standardisation?","authors":"Natalie J Chandler, Zandra C Deans","doi":"10.1002/pd.6866","DOIUrl":"https://doi.org/10.1002/pd.6866","url":null,"abstract":"<p><strong>Objective: </strong>The development of sequencing technologies has resulted in rapid expansion in the testing available for foetuses with structural anomalies to diagnose monogenic disorders. To understand the variability in how foetal sequencing services are delivered, we developed a survey that focussed on the scope of testing, any parallel testing performed, laboratory and analytical processes, multidisciplinary team working, reporting practices, quality, reanalysis and data sharing.</p><p><strong>Method: </strong>A draft survey was developed and reviewed by members of the International Society of Prenatal Diagnosis (ISPD) and revised accordingly. Questions were developed with the aim of ascertaining how prenatal sequencing services are being conducted and results reported. The survey was distributed to members of all GenQA registered laboratories and ISPD members.</p><p><strong>Results: </strong>Responses were received from 101 individuals from a range of specialisms. The results show a high degree of variability in how laboratories are conducting, analysing and reporting foetal sequencing tests.</p><p><strong>Conclusion: </strong>The survey results demonstrate the need for global guidance on issues related specifically to prenatal sequencing. To include: the role of the clinical team prior to testing, the scope and limitations of sequencing, multidisciplinary working to interpret the data, the handling unexpected findings and clear, accurate reporting of the results.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708568","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":"Perinatal Survival Following Parvovirus B19 Infection: Overall Outcomes and a Secondary Comparison of the 2023-2024 Outbreak to the Previous Two Decades.","authors":"Noam Regev, Noam Pardo, Michal Axelrod, Chen Berkovitz, Eliel Klapholz, Orna Mor, Hagai Avnet, Boaz Weisz, Shali Mazaki-Tovi, Yoav Yinon","doi":"10.1002/pd.6860","DOIUrl":"https://doi.org/10.1002/pd.6860","url":null,"abstract":"<p><strong>Objectives: </strong>To evaluate perinatal survival following maternal parvovirus B19 virus (B19V) infection and compare the 2023-2024 outbreak to prior decades.</p><p><strong>Method: </strong>A single tertiary center retrospective study (2005-2024) of all pregnancies with confirmed maternal B19V infection. Data on maternal, fetal, and neonatal outcomes were collected, with live birth rate as the primary outcome. Patients were divided into the 2023-2024 outbreak group and a control group (2005-2022) for comparison.</p><p><strong>Results: </strong>Among 124 patients, 51 comprised the outbreak group and 73 comprised the control group. The live birth rate was 90.3%. Fetal hydrops (OR 18.0, 95% CI 2.12-153.03), intra-uterine transfusion (IUT) requirement (OR 1.33, 95% CI 1.09-1.69) and an earlier gestational age at first IUT (OR 0.6, 95% CI 0.37-0.96) were associated with decreased perinatal survival. The outbreak group presented earlier (15.5 [IQR 10.2-20.4] vs. 19.5 [IQR 15.0-23.0], p = 0.04), and had a higher fetal viral load (cycle threshold value 11.5 [IQR 7.54-13.57] vs. 16.63 [IQR 13.42-20.59], p = 0.01). However, rates of hydrops, indication for IUT, perinatal survival, abnormal CNS findings, and neonatal outcomes did not differ between the groups.</p><p><strong>Conclusions: </strong>Fetal hydrops and an earlier indication for IUT were predictors of IUFD. Despite earlier presentation and higher viral load, the outbreak did not worsen perinatal outcomes.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144708569","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":"Clinical Implications of Noninvasive Prenatal Testing Failures Due to Low Fetal Fraction: Associations With Adverse Maternal and Fetal Outcomes.","authors":"Yuan Ren, Na Hao, Jiazhen Chang, Yulin Jiang, Qingwei Qi, Xiya Zhou, Jingwen Zhou, Yingna Song, Juntao Liu","doi":"10.1002/pd.6852","DOIUrl":"https://doi.org/10.1002/pd.6852","url":null,"abstract":"<p><strong>Objective: </strong>To identify risk factors associated with noninvasive prenatal testing (NIPT) failures due to a low fetal fraction (LFF, < 4%) and to evaluate appropriate management strategies.</p><p><strong>Methods: </strong>This was a single retrospective cohort study conducted on consecutive NIPT procedures performed at a national prenatal diagnosis center between April 2016 and June 2022.</p><p><strong>Results: </strong>Among the 41,693 NIPT procedures conducted at Peking Union Medical College Hospital, 524 cases (1.3%) failed due to LFF. Testing failures were associated with an increased risk of rare fetal chromosomal abnormalities (OR 18.9). Independent risk factors for NIPT failure included antiphospholipid syndrome (OR 19.7), rare fetal chromosomal abnormalities (OR 17.9), body mass index ≥ 25 kg/m² (OR 8.1), low molecular weight heparin administration (OR 7.7), systemic lupus erythematosus (OR 6.1), and dichorionic twins (OR 2.1). NIPT failure was also associated with a higher incidence of gestational hypertension (2.9% vs. 0.7%; OR 4.0), preeclampsia (9.1% vs. 1.0%; OR 10.4), gestational diabetes mellitus (26.0% vs. 11.8%; OR 2.6), fetal growth restriction (4.7% vs. 0.9%; OR 5.4), spontaneous abortion (2.4% vs. 0.6%; OR 4.1), and preterm birth (10.0% vs. 3.6%; OR 3.0).</p><p><strong>Conclusions: </strong>Pregnancies with NIPT failures are at a heightened risk for fetal chromosomal abnormalities and placenta-mediated complications, highlighting the need for enhanced monitoring and individualized management during perinatal care.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144699259","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 Arrival of Exome Sequencing in French Prenatal Diagnosis: An Exploratory Qualitative Study Among Professionals in Prenatal Diagnosis Centers: Prenatome-SHS.","authors":"Charlène Daval, Nicolas Meunier-Beillard, Eléonore Viora-Dupont, Julian Delanne, Aurore Garde, Caroline Racine, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Christophe Philippe, Ange-Line Bruel, Hana Safraou, Sylvie Odent, Chloé Quélin, Marine Legendre, Sophie Naudion, Médéric Jeanne, Marie-Line Jacquemont, Agnès Guichet, Camille Saldana, Anne-Marie Guerrot, Alice Goldenberg, Caroline Guégan, Marie Vincent, Audrey Putoux, Christine Francannet, Constance Wells, Chloé Arthuis, Elodie Alexandre, Thierry Rousseau, Olivia Martz, Emilie Simon, Ornella Magnien, Fanny Bobert, Sophie Bert, Frédéric Coatleven, Fanny Reveyaz, Perrine Moulinié, Christine Binquet, Christel Thauvin-Robinet, Laurence Faivre","doi":"10.1002/pd.6863","DOIUrl":"https://doi.org/10.1002/pd.6863","url":null,"abstract":"<p><strong>Objective: </strong>Following the first French multicenter pilot study (AnDDI-Prenatome) focused on the implementation of prenatal exome sequencing (pES), this ancillary study aims to explore the ethical and clinical issues raised by pES within multidisciplinary prenatal diagnosis centers.</p><p><strong>Methods: </strong>33 healthcare professionals involved in the management of couples undergoing prenatal diagnosis (PND) took part in focus groups (2 with clinical geneticists, 3 with professionals from multidisciplinary prenatal diagnosis centers (MPDC), 1 with biologists). Each focus group was analyzed using the thematic analysis method.</p><p><strong>Results: </strong>Professionals emphasized the importance of having a clear understanding of pES and the criteria for its prescription. Geneticists highlighted the need for a framework to clarify the implications of consent for patients and stressed the importance of offering structured support to assist couples in their decision-making process. Biologists and geneticists expressed a desire for effective multidisciplinary coordination of the care pathway, particularly in situations where the results were uncertain.</p><p><strong>Conclusion: </strong>These results will help to establish French recommendations for the prescription of pES.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691330","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":"An Unusual Mainly Skeletal Prenatal Presentation of Cornelia de Lange Syndrome Due To a Novel Variant in NIPBL.","authors":"Beatrice Burzio, Giulia Rosti, Francesca Madia, Dario Paladini","doi":"10.1002/pd.6864","DOIUrl":"https://doi.org/10.1002/pd.6864","url":null,"abstract":"<p><p>CNLS is a multisystemic malformative syndrome caused by variants in genes of the cohesin complex, with the most common form due to variants in NIPBL. Phenotype is variable, but facial dysmorphisms and skeletal anomalies represent the most common expressions of the syndrome. In this report, we describe de novo c.5731 C > T p.(Gln1911*) variant in NIPBL in a fetus with severe upper limbs' malformations. These malformations have been rarely described in CDLS and are, at the same time, possibly indicative of Ulnar-Mammary syndrome. Hence, we highlight the differential diagnosis and the need for exome sequencing in case this rare phenotype is encountered in the fetus.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144691329","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}